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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ESPN_chr1_6419776_6465944  ESPN_chr1_6419776_6465944 (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 83715
ensemblid ENSG00000187017.18
hgncid 13281
symbol ESPN
name espin
refseq_nuc NM_031475.3
refseq_prot NP_113663.2
ensembl_nuc ENST00000645284.1
ensembl_prot ENSP00000496593.1
mane_status MANE Select
chr chr1
start 6424776
end 6460944
strand +
ver v1.2
region chr1:6424776-6460944
region5000 chr1:6419776-6465944
regionname0 ESPN_chr1_6424776_6460944
regionname5000 ESPN_chr1_6419776_6465944

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 854 179 25 49 74 7 22 45 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002 0/0 854 59 46 7 2 1 3 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0003 0/0 854 7 7 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0004 0/0 854 7 0 3 4 0 0 3 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0005 0/0 854 3 3 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0006 0/0 854 2 2 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0007 0/0 854 2 2 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0008 0/0 854 2 2 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0009 0/0 854 2 2 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0010 0/0 854 2 2 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0011 0/0 854 1 0 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0012 0/0 854 1 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0013 0/0 854 1 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0014 0/0 854 1 0 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0015 0/0 854 1 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0016 0/0 854 1 0 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0017 0/0 854 1 0 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0018 0/0 854 1 0 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0019 0/0 854 1 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0020 0/0 854 1 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0021 0/0 854 1 0 0 1 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2565 126 9 39 51 6 19 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0002 0/0 2565 48 13 10 21 1 3 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0003 0/0 2565 36 27 6 0 1 2 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0004 0/0 2565 19 17 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0005 0/0 2565 7 0 3 4 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0006 0/0 2565 7 7 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0007 0/0 2565 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0008 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0009 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0010 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0011 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0012 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0013 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0014 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0015 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0016 0/0 2565 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0017 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0018 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0019 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0020 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0021 0/0 2565 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0022 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0023 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0024 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0025 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0026 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0027 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0028 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0029 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0030 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
c0031 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 979 133 12 43 53 6 17 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0002 0/0 979 77 56 11 4 1 5 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0003 0/0 979 51 17 6 24 0 4 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0004 0/0 979 3 1 1 0 1 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0005 0/0 979 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0006 0/0 979 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0007 0/0 979 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0008 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0009 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0010 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0011 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0012 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0013 0/0 979 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
t0014 0/0 979 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 9 1 5 0 2 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0002 0/0 9 0 8 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0003 0/0 4 4 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0004 0/0 4 0 0 4 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0005 0/0 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0006 0/0 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0007 0/0 3 0 0 3 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0008 0/0 3 2 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0009 0/0 3 1 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0010 0/1 3 0 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0011 0/0 3 0 0 3 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0012 0/0 3 0 0 2 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0013 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0014 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0015 0/0 2 0 1 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0016 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0017 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0018 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0019 0/0 2 0 0 1 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0020 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0021 0/0 2 1 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0022 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0023 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0024 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0025 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0026 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0027 0/0 2 0 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0028 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0029 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0030 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0031 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0032 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0033 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0034 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0035 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0036 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0037 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0038 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0039 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0040 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0041 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0042 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0043 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0044 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0045 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0046 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0047 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0048 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0049 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0050 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0051 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0052 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0053 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0054 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0055 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0056 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0057 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0058 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0059 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0060 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0061 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0062 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0063 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0064 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0065 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0066 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0067 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0068 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0069 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0070 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0071 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0072 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0073 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0074 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0075 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0076 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0077 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0078 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0079 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0080 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0081 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0082 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0083 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0084 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0085 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0086 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0087 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0088 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0089 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0090 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0091 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0092 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0093 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0094 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0095 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0096 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0097 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0098 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0099 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0100 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0101 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0102 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0103 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0104 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0105 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0106 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0107 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0108 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0109 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0110 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0111 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0112 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0113 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0114 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0115 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0116 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0117 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0118 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0119 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0120 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0121 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0122 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0123 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0124 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0125 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0126 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0127 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0128 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0129 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0130 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0131 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0132 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0133 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0134 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0135 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0136 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0137 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0138 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0139 1/0 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0140 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0141 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0142 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0143 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0144 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0145 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0146 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0147 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0148 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0149 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0150 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0151 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0152 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0153 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0154 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0155 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0156 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0157 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0158 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0159 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0160 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0161 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0162 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0163 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0164 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0165 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0166 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0167 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0168 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0169 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0170 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0171 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0172 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0173 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0174 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0175 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0176 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0177 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0178 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0179 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0180 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0181 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0182 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0183 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0184 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0185 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0186 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0187 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0188 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0189 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0190 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0191 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0192 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0193 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0194 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0195 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0196 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0197 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0198 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0199 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0200 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0201 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0202 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0203 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0204 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0205 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0206 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0207 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0208 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0209 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0210 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0211 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0212 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0213 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0214 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0215 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0216 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0217 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0218 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0219 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0220 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0221 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0222 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
g0223 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2565 126 9 39 51 6 19 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0002 0/0 2565 48 13 10 21 1 3 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0009 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0024 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0027 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0031 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0003 0/0 2565 36 27 6 0 1 2 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0004 0/0 2565 19 17 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0008 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0016 0/0 2565 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0025 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0003c0006 0/0 2565 7 7 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0004c0005 0/0 2565 7 0 3 4 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0005c0007 0/0 2565 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0006c0012 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0007c0013 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0008c0022 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0008c0023 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0009c0010 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0010c0011 0/0 2565 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0011c0015 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0012c0029 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0013c0028 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0014c0020 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0015c0017 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0016c0019 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0017c0018 0/0 2565 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0018c0021 0/0 2565 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0019c0026 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0020c0030 0/0 2565 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0021c0014 0/0 2565 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 3543 115 5 37 50 5 16 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0001t0002 0/0 3543 4 1 1 0 0 2 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0001t0003 0/0 3543 3 2 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0001t0004 0/0 3543 3 1 1 0 1 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0001t0007 0/0 3543 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0002t0002 0/0 3543 12 1 6 3 1 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0002t0003 0/0 3543 34 11 3 18 0 2 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0002t0005 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0002t0014 0/0 3543 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0009t0002 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0024t0002 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0027t0001 0/0 3543 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0001c0031t0001 0/0 3543 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0003t0001 0/0 3543 9 5 3 0 1 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0003t0002 0/0 3543 25 20 3 0 0 2 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0003t0010 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0003t0011 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0004t0002 0/0 3543 15 14 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0004t0003 0/0 3543 2 1 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0004t0009 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0004t0012 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0008t0002 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0016t0001 0/0 3543 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0002c0025t0001 0/0 3543 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0003c0006t0002 0/0 3543 7 7 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0004c0005t0003 0/0 3543 7 0 3 4 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0005c0007t0002 0/0 3543 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0006c0012t0002 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0007c0013t0006 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0008c0022t0013 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0008c0023t0005 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0009c0010t0001 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0010c0011t0003 0/0 3543 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0011c0015t0002 0/0 3543 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0012c0029t0008 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0013c0028t0002 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0014c0020t0001 0/0 3543 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0015c0017t0002 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0016c0019t0001 0/0 3543 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0017c0018t0001 0/0 3543 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0018c0021t0003 0/0 3543 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0019c0026t0003 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0020c0030t0002 0/0 3543 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944
a0021c0014t0003 0/0 3543 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN copy fasta chr1 6419776 6465944

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 7 0 4 0 2 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0002 0/0 9 0 8 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0007 0/0 3 0 0 3 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0009 0/0 3 1 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0010 0/1 3 0 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0011 0/0 3 0 0 3 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0016 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0017 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0018 0/0 2 0 0 2 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0019 0/0 2 0 0 1 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0020 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0021 0/0 2 1 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0070 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0089 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0090 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0091 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0095 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0101 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0102 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0103 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0104 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0108 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0109 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0110 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0115 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0116 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0118 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0120 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0121 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0122 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0123 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0127 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0128 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0129 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0130 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0131 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0132 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0133 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0134 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0135 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0136 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0138 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0139 1/0 1 0 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0140 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0142 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0143 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0144 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0145 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0146 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0149 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0150 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0152 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0156 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0157 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0161 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0169 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0002g0045 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0002g0046 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0002g0079 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0002g0082 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0003g0026 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0003g0218 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0004g0001 0/0 2 1 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0004g0148 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0001t0007g0020 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0050 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0051 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0053 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0055 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0058 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0060 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0061 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0062 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0063 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0065 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0067 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0002g0068 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0004 0/0 4 0 0 4 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0012 0/0 3 0 0 2 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0025 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0186 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0187 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0188 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0189 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0190 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0191 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0192 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0193 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0194 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0195 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0196 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0197 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0199 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0200 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0201 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0202 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0204 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0205 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0206 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0207 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0213 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0220 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0221 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0222 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0003g0223 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0005g0033 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0002t0014g0184 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0009t0002g0036 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0009t0002g0038 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0024t0002g0057 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0027t0001g0147 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0001c0031t0001g0094 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0008 0/0 3 2 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0105 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0106 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0107 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0124 0/0 1 0 0 0 1 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0126 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0001g0151 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0005 0/0 3 3 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0006 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0013 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0015 0/0 2 0 1 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0028 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0030 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0031 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0037 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0041 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0042 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0043 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0044 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0047 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0048 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0054 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0066 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0073 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0080 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0083 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0085 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0002g0086 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0010g0078 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0003t0011g0040 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0003 0/0 4 4 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0024 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0052 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0056 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0059 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0069 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0178 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0179 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0180 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0181 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0002g0182 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0003g0185 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0003g0219 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0009g0177 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0004t0012g0049 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0008t0002g0006 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0016t0001g0125 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0002c0025t0001g0159 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0023 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0029 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0171 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0172 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0173 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0003c0006t0002g0176 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0027 0/0 2 0 2 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0183 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0214 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0215 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0216 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0004c0005t0003g0217 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0005c0007t0002g0014 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0005c0007t0002g0039 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0006c0012t0002g0081 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0006c0012t0002g0084 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0007c0013t0006g0208 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0007c0013t0006g0209 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0008c0022t0013g0034 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0008c0023t0005g0035 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0009c0010t0001g0022 0/0 2 2 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0010c0011t0003g0210 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0010c0011t0003g0211 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0011c0015t0002g0064 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0012c0029t0008g0174 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0013c0028t0002g0175 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0014c0020t0001g0111 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0015c0017t0002g0032 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0016c0019t0001g0093 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0017c0018t0001g0112 0/0 1 0 1 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0018c0021t0003g0212 0/0 1 0 0 0 0 1 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0019c0026t0003g0203 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0020c0030t0002g0158 0/0 1 1 0 0 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
a0021c0014t0003g0198 0/0 1 0 0 1 0 0 ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00280 hp2 a0001 c0001 t0001 g0002 EUR FIN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00323 hp1 a0001 c0001 t0004 g0148 EUR FIN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00323 hp2 a0001 c0001 t0001 g0169 EUR FIN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00423 hp1 a0001 c0001 t0001 g0018 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00423 hp2 a0001 c0002 t0003 g0197 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00438 hp1 a0001 c0027 t0001 g0147 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00438 hp2 a0001 c0001 t0001 g0018 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00609 hp1 a0001 c0001 t0001 g0113 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00609 hp2 a0001 c0001 t0001 g0155 EAS CHS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00733 hp1 a0001 c0001 t0001 g0161 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00733 hp2 a0001 c0001 t0001 g0010 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00735 hp1 a0002 c0003 t0002 g0042 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00735 hp2 a0001 c0001 t0001 g0145 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00738 hp1 a0001 c0001 t0001 g0149 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG00738 hp2 a0001 c0002 t0002 g0067 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01070 hp1 a0001 c0002 t0002 g0062 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01070 hp2 a0001 c0001 t0001 g0009 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01071 hp1 a0001 c0002 t0002 g0060 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01071 hp2 a0001 c0001 t0001 g0001 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01074 hp1 a0001 c0001 t0001 g0130 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01074 hp2 a0002 c0003 t0002 g0015 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01099 hp1 a0001 c0001 t0001 g0002 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01099 hp2 a0001 c0001 t0001 g0144 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01106 hp1 a0001 c0002 t0002 g0068 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01106 hp2 a0001 c0001 t0001 g0001 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01109 hp1 a0001 c0001 t0001 g0021 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01109 hp2 a0001 c0002 t0003 g0207 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01167 hp1 a0001 c0001 t0001 g0072 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01167 hp2 a0001 c0002 t0003 g0223 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01168 hp1 a0001 c0001 t0001 g0010 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01168 hp2 a0001 c0001 t0001 g0122 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01169 hp1 a0001 c0001 t0001 g0127 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01169 hp2 a0001 c0002 t0003 g0222 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01175 hp1 a0001 c0001 t0004 g0001 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01175 hp2 a0002 c0003 t0002 g0041 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01192 hp1 a0011 c0015 t0002 g0064 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01192 hp2 a0017 c0018 t0001 g0112 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01243 hp1 a0002 c0003 t0001 g0008 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01243 hp2 a0001 c0001 t0001 g0146 AMR PUR ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01255 hp1 a0004 c0005 t0003 g0027 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01255 hp2 a0014 c0020 t0001 g0111 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01256 hp1 a0001 c0002 t0002 g0061 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01256 hp2 a0001 c0001 t0001 g0150 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01257 hp1 a0001 c0001 t0001 g0152 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01257 hp2 a0002 c0003 t0001 g0151 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01261 hp1 a0001 c0001 t0001 g0140 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01261 hp2 a0001 c0001 t0001 g0109 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01346 hp1 a0001 c0002 t0002 g0065 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01346 hp2 a0001 c0001 t0001 g0142 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01361 hp1 a0001 c0001 t0001 g0141 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01361 hp2 a0001 c0001 t0002 g0046 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01433 hp1 a0001 c0001 t0001 g0129 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01433 hp2 a0004 c0005 t0003 g0027 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01496 hp1 a0002 c0003 t0001 g0126 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01496 hp2 a0001 c0001 t0001 g0002 AMR CLM ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01516 hp1 a0001 c0001 t0001 g0134 EUR IBS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01516 hp2 a0001 c0002 t0002 g0063 EUR IBS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01517 hp1 a0001 c0001 t0001 g0001 EUR IBS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01517 hp2 a0002 c0003 t0001 g0124 EUR IBS ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01884 hp1 a0002 c0004 t0002 g0024 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01884 hp2 a0002 c0003 t0011 g0040 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01891 hp1 a0008 c0022 t0013 g0034 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01891 hp2 a0010 c0011 t0003 g0211 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01928 hp1 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01928 hp2 a0001 c0001 t0001 g0132 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01934 hp1 a0001 c0001 t0001 g0133 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01934 hp2 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01978 hp1 a0001 c0001 t0001 g0131 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01978 hp2 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01981 hp1 a0001 c0001 t0001 g0001 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01981 hp2 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01993 hp1 a0001 c0001 t0001 g0143 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG01993 hp2 a0004 c0005 t0003 g0216 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02027 hp1 a0002 c0004 t0003 g0219 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02027 hp2 a0001 c0001 t0001 g0091 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02040 hp1 a0001 c0001 t0001 g0071 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02040 hp2 a0001 c0001 t0001 g0077 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02055 hp1 a0002 c0004 t0002 g0003 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02055 hp2 a0005 c0007 t0002 g0014 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02056 hp1 a0016 c0019 t0001 g0093 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02056 hp2 a0001 c0001 t0007 g0020 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02071 hp1 a0001 c0001 t0001 g0100 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02071 hp2 a0001 c0001 t0001 g0119 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02074 hp1 a0001 c0001 t0001 g0011 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02074 hp2 a0001 c0002 t0003 g0004 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02083 hp1 a0004 c0005 t0003 g0217 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02083 hp2 a0001 c0001 t0001 g0160 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02129 hp1 a0001 c0001 t0001 g0167 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02129 hp2 a0001 c0001 t0001 g0170 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02132 hp1 a0001 c0001 t0001 g0114 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02132 hp2 a0001 c0001 t0001 g0137 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02135 hp1 a0001 c0001 t0001 g0075 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02135 hp2 a0001 c0001 t0001 g0117 EAS KHV ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02145 hp1 a0013 c0028 t0002 g0175 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02145 hp2 a0001 c0002 t0003 g0199 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02148 hp1 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02148 hp2 a0001 c0001 t0001 g0001 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02155 hp1 a0001 c0001 t0001 g0166 EAS CDX ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02155 hp2 a0001 c0001 t0001 g0007 EAS CDX ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02165 hp1 a0001 c0001 t0001 g0098 EAS CDX ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02165 hp2 a0001 c0002 t0003 g0193 EAS CDX ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02257 hp1 a0001 c0001 t0004 g0001 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02257 hp2 a0002 c0003 t0002 g0044 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02258 hp1 a0002 c0003 t0002 g0005 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02258 hp2 a0003 c0006 t0002 g0173 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02273 hp1 a0001 c0001 t0001 g0009 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02273 hp2 a0001 c0001 t0001 g0002 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02280 hp1 a0006 c0012 t0002 g0081 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02280 hp2 a0001 c0002 t0003 g0187 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02293 hp1 a0002 c0025 t0001 g0159 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02293 hp2 a0001 c0002 t0014 g0184 AMR PEL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02451 hp1 a0012 c0029 t0008 g0174 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02451 hp2 a0001 c0002 t0003 g0205 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02572 hp1 a0002 c0003 t0001 g0008 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02572 hp2 a0001 c0001 t0001 g0101 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02602 hp1 a0001 c0001 t0001 g0116 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02602 hp2 a0001 c0001 t0001 g0136 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02615 hp1 a0002 c0003 t0002 g0030 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02615 hp2 a0002 c0003 t0001 g0106 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02622 hp1 a0002 c0003 t0002 g0028 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02622 hp2 a0003 c0006 t0002 g0029 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02630 hp1 a0002 c0003 t0002 g0073 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02630 hp2 a0002 c0003 t0002 g0047 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02683 hp1 a0001 c0001 t0001 g0089 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02683 hp2 a0001 c0001 t0001 g0115 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02717 hp1 a0002 c0003 t0002 g0005 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02717 hp2 a0005 c0007 t0002 g0014 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02723 hp1 a0006 c0012 t0002 g0084 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02723 hp2 a0001 c0002 t0003 g0206 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02735 hp1 a0002 c0003 t0002 g0048 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02735 hp2 a0001 c0001 t0001 g0121 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02809 hp1 a0003 c0006 t0002 g0172 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02809 hp2 a0002 c0004 t0012 g0049 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02818 hp1 a0002 c0003 t0001 g0105 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02818 hp2 a0002 c0003 t0010 g0078 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02886 hp1 a0002 c0003 t0001 g0008 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02886 hp2 a0001 c0002 t0003 g0190 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02895 hp1 a0002 c0004 t0002 g0179 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02895 hp2 a0002 c0004 t0002 g0182 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02896 hp1 a0007 c0013 t0006 g0209 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02896 hp2 a0001 c0001 t0001 g0135 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02897 hp1 a0007 c0013 t0006 g0208 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02897 hp2 a0002 c0004 t0002 g0003 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02922 hp1 a0020 c0030 t0002 g0158 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02922 hp2 a0002 c0004 t0002 g0069 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02965 hp1 a0002 c0004 t0002 g0003 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02965 hp2 a0015 c0017 t0002 g0032 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02970 hp1 a0002 c0004 t0002 g0056 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02970 hp2 a0002 c0003 t0002 g0083 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02976 hp1 a0001 c0001 t0003 g0026 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02976 hp2 a0001 c0009 t0002 g0036 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03017 hp1 a0001 c0001 t0001 g0128 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03017 hp2 a0001 c0001 t0001 g0095 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03041 hp1 a0002 c0004 t0002 g0178 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03041 hp2 a0002 c0003 t0002 g0013 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03098 hp1 a0002 c0003 t0002 g0085 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03098 hp2 a0001 c0002 t0005 g0033 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03130 hp1 a0019 c0026 t0003 g0203 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03130 hp2 a0009 c0010 t0001 g0022 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03139 hp1 a0001 c0002 t0003 g0188 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03139 hp2 a0001 c0009 t0002 g0038 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03195 hp1 a0009 c0010 t0001 g0022 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03195 hp2 a0001 c0002 t0003 g0221 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03209 hp1 a0005 c0007 t0002 g0039 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03209 hp2 a0002 c0003 t0002 g0005 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03225 hp1 a0002 c0004 t0002 g0180 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03225 hp2 a0003 c0006 t0002 g0023 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03453 hp1 a0002 c0004 t0002 g0003 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03453 hp2 a0001 c0024 t0002 g0057 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03486 hp1 a0002 c0008 t0002 g0006 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03486 hp2 a0001 c0002 t0003 g0025 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03492 hp1 a0018 c0021 t0003 g0212 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03492 hp2 a0001 c0001 t0001 g0120 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03516 hp1 a0002 c0008 t0002 g0006 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03516 hp2 a0002 c0003 t0002 g0043 AFR ESN ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03540 hp1 a0002 c0003 t0002 g0031 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03540 hp2 a0001 c0002 t0003 g0220 AFR GWD ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03579 hp1 a0002 c0004 t0002 g0181 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03579 hp2 a0001 c0002 t0003 g0025 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03669 hp1 a0001 c0001 t0002 g0045 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03669 hp2 a0001 c0001 t0001 g0102 SAS PJL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03831 hp1 a0002 c0003 t0002 g0015 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03831 hp2 a0001 c0001 t0001 g0103 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03834 hp1 a0001 c0001 t0001 g0110 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03834 hp2 a0001 c0002 t0003 g0012 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03942 hp1 a0001 c0001 t0003 g0218 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03942 hp2 a0001 c0001 t0001 g0123 SAS BEB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04115 hp1 a0001 c0001 t0001 g0138 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04115 hp2 a0002 c0016 t0001 g0125 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04204 hp1 a0001 c0001 t0001 g0001 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04204 hp2 a0001 c0001 t0002 g0082 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04228 hp1 a0001 c0002 t0002 g0058 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG04228 hp2 a0001 c0001 t0001 g0019 SAS STU ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18522 hp1 a0002 c0003 t0002 g0080 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18522 hp2 a0002 c0003 t0002 g0054 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18612 hp1 a0001 c0001 t0001 g0088 EAS CHB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18612 hp2 a0001 c0002 t0003 g0004 EAS CHB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18747 hp1 a0001 c0001 t0001 g0092 EAS CHB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18747 hp2 a0001 c0002 t0003 g0196 EAS CHB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18906 hp1 a0001 c0001 t0001 g0021 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18906 hp2 a0002 c0003 t0002 g0037 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18944 hp1 a0001 c0002 t0003 g0200 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18944 hp2 a0001 c0001 t0001 g0019 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18946 hp1 a0001 c0002 t0002 g0051 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18946 hp2 a0001 c0001 t0001 g0164 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18949 hp1 a0004 c0005 t0003 g0215 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18949 hp2 a0001 c0001 t0001 g0163 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18950 hp1 a0001 c0002 t0003 g0201 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18950 hp2 a0001 c0001 t0001 g0007 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18952 hp1 a0001 c0001 t0001 g0097 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18952 hp2 a0001 c0002 t0003 g0004 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18961 hp1 a0001 c0001 t0001 g0165 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18961 hp2 a0004 c0005 t0003 g0183 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18962 hp1 a0001 c0002 t0002 g0050 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18962 hp2 a0001 c0001 t0001 g0104 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18969 hp1 a0001 c0001 t0001 g0020 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18969 hp2 a0001 c0002 t0003 g0191 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18973 hp1 a0001 c0001 t0001 g0168 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18973 hp2 a0001 c0001 t0001 g0090 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18975 hp1 a0001 c0001 t0001 g0154 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18975 hp2 a0001 c0002 t0003 g0195 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18985 hp1 a0001 c0001 t0001 g0011 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18985 hp2 a0001 c0002 t0003 g0189 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18990 hp1 a0001 c0002 t0003 g0012 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18990 hp2 a0001 c0001 t0001 g0016 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18994 hp1 a0001 c0002 t0003 g0012 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18994 hp2 a0001 c0031 t0001 g0094 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18999 hp1 a0001 c0001 t0001 g0017 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18999 hp2 a0001 c0001 t0001 g0162 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19000 hp1 a0001 c0001 t0001 g0099 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19000 hp2 a0001 c0001 t0001 g0156 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19002 hp1 a0001 c0001 t0001 g0087 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19002 hp2 a0021 c0014 t0003 g0198 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19009 hp1 a0004 c0005 t0003 g0214 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19009 hp2 a0001 c0001 t0001 g0007 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19010 hp1 a0001 c0001 t0001 g0016 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19010 hp2 a0001 c0002 t0003 g0202 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19011 hp1 a0001 c0002 t0003 g0004 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19011 hp2 a0001 c0001 t0001 g0011 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19012 hp1 a0001 c0001 t0001 g0017 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19012 hp2 a0001 c0002 t0002 g0053 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19030 hp1 a0008 c0023 t0005 g0035 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19030 hp2 a0010 c0011 t0003 g0210 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19043 hp1 a0002 c0003 t0002 g0013 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19043 hp2 a0002 c0004 t0009 g0177 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19057 hp1 a0001 c0001 t0001 g0076 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19057 hp2 a0001 c0002 t0003 g0194 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19060 hp1 a0001 c0001 t0001 g0108 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19060 hp2 a0002 c0004 t0002 g0052 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19066 hp1 a0001 c0001 t0001 g0157 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19066 hp2 a0001 c0002 t0003 g0204 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19091 hp1 a0001 c0001 t0001 g0096 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19091 hp2 a0001 c0001 t0001 g0153 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19240 hp1 a0001 c0001 t0001 g0070 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA19240 hp2 a0001 c0001 t0003 g0026 AFR YRI ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20129 hp1 a0003 c0006 t0002 g0176 AFR ASW ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20129 hp2 a0001 c0001 t0001 g0009 AFR ASW ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20905 hp1 a0001 c0001 t0001 g0118 SAS GIH ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20905 hp2 a0001 c0002 t0003 g0213 SAS GIH ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02109 hp1 a0003 c0006 t0002 g0023 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02109 hp2 a0001 c0002 t0002 g0055 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02559 hp1 a0002 c0004 t0003 g0185 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG02559 hp2 a0002 c0003 t0002 g0006 AFR ACB ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03471 hp1 a0001 c0002 t0003 g0192 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG03471 hp2 a0002 c0004 t0002 g0059 AFR MSL ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG06807 hp1 a0001 c0001 t0002 g0079 AFR USA ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
HG06807 hp2 a0003 c0006 t0002 g0171 AFR USA ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18955 hp1 a0001 c0001 t0001 g0074 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA18955 hp2 a0001 c0002 t0003 g0186 EAS JPT ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20300 hp1 a0002 c0003 t0001 g0107 AFR USA ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA20300 hp2 a0002 c0004 t0002 g0024 AFR USA ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA21309 hp1 a0002 c0003 t0002 g0086 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
NA21309 hp2 a0002 c0003 t0002 g0066 AFR LWK ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0010 REF REF ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0139 REF REF ESPN_chr1_6419776_6465944 ESPN chr1 6419776 6465944

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
chr1:6425154 G
G
A
A
1 a0021
a0021
1 NA19002.hp2
NA19002.hp2
missense_variant MODERATE c.199G>A
c.199G>A
p.Ala67Thr
p.Ala67Thr
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 379/3543 199/2565 67/854 chr1 6425154
chr1:6425205 G
G
T
T
1 a0020
a0020
1 HG02922.hp1
HG02922.hp1
missense_variant MODERATE c.250G>T
c.250G>T
p.Ala84Ser
p.Ala84Ser
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 430/3543 250/2565 84/854 chr1 6425205
chr1:6425245 T
T
A
A
1 a0011
a0011
1 HG01192.hp1
HG01192.hp1
missense_variant MODERATE c.290T>A
c.290T>A
p.Val97Glu
p.Val97Glu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 470/3543 290/2565 97/854 chr1 6425245
chr1:6440347 A
A
T
T
1 a0012
a0012
1 HG02451.hp1
HG02451.hp1
missense_variant MODERATE c.582A>T
c.582A>T
p.Glu194Asp
p.Glu194Asp
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/13 762/3543 582/2565 194/854 chr1 6440347
chr1:6440656 C
C
G
G
4 a0003
a0006
a0007
others(1): Show 
a0003
a0006
a0007
a0013
12 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(9): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
missense_variant MODERATE c.706C>G
c.706C>G
p.Gln236Glu
p.Gln236Glu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 4/13 886/3543 706/2565 236/854 chr1 6440656
chr1:6440962 C
C
T
T
1 a0019
a0019
1 HG03130.hp1
HG03130.hp1
missense_variant MODERATE c.887C>T
c.887C>T
p.Ala296Val
p.Ala296Val
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/13 1067/3543 887/2565 296/854 chr1 6440962
chr1:6444539 C
C
G
G
1 a0018
a0018
1 HG03492.hp1
HG03492.hp1
missense_variant MODERATE c.1049C>G
c.1049C>G
p.Pro350Arg
p.Pro350Arg
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/13 1229/3543 1049/2565 350/854 chr1 6444539
chr1:6444594 T
T
G
G
1 a0005
a0005
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
missense_variant MODERATE c.1104T>G
c.1104T>G
p.Phe368Leu
p.Phe368Leu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/13 1284/3543 1104/2565 368/854 chr1 6444594
chr1:6445717 C
C
T
T
1 a0007
a0007
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
missense_variant MODERATE c.1246C>T
c.1246C>T
p.Pro416Ser
p.Pro416Ser
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/13 1426/3543 1246/2565 416/854 chr1 6445717
chr1:6445735 C
C
T
T
1 a0010
a0010
2 HG01891.hp2
NA19030.hp2
HG01891.hp2
NA19030.hp2
missense_variant MODERATE c.1264C>T
c.1264C>T
p.Arg422Trp
p.Arg422Trp
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/13 1444/3543 1264/2565 422/854 chr1 6445735
chr1:6445736 G
G
A
A
2 a0006
a0008
a0006
a0008
4 HG01891.hp1
HG02280.hp1
HG02723.hp1
others(1): Show 
HG01891.hp1
HG02280.hp1
HG02723.hp1
NA19030.hp1
missense_variant MODERATE c.1265G>A
c.1265G>A
p.Arg422Gln
p.Arg422Gln
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/13 1445/3543 1265/2565 422/854 chr1 6445736
chr1:6445757 C
C
T
T
1 a0014
a0014
1 HG01255.hp2
HG01255.hp2
missense_variant MODERATE c.1286C>T
c.1286C>T
p.Thr429Ile
p.Thr429Ile
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/13 1466/3543 1286/2565 429/854 chr1 6445757
chr1:6448812 C
C
T
T
7 a0002
a0003
a0007
others(4): Show 
a0002
a0003
a0007
a0009
a0010
a0012
a0015
74 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(71): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
missense_variant MODERATE c.1636C>T
c.1636C>T
p.Arg546Cys
p.Arg546Cys
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/13 1816/3543 1636/2565 546/854 chr1 6448812
chr1:6448822 C
C
T
T
1 a0015
a0015
1 HG02965.hp2
HG02965.hp2
missense_variant MODERATE c.1646C>T
c.1646C>T
p.Ala549Val
p.Ala549Val
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/13 1826/3543 1646/2565 549/854 chr1 6448822
chr1:6448885 C
C
T
T
1 a0004
a0004
7 HG01255.hp1
HG01433.hp2
HG01993.hp2
others(4): Show 
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02083.hp1
NA18949.hp1
NA18961.hp2
NA19009.hp1
missense_variant MODERATE c.1709C>T
c.1709C>T
p.Pro570Leu
p.Pro570Leu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/13 1889/3543 1709/2565 570/854 chr1 6448885
chr1:6452055 A
A
T
T
1 a0009
a0009
2 HG03130.hp2
HG03195.hp1
HG03130.hp2
HG03195.hp1
missense_variant MODERATE c.2284A>T
c.2284A>T
p.Met762Leu
p.Met762Leu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/13 2464/3543 2284/2565 762/854 chr1 6452055
chr1:6457236 T
T
G
G
1 a0017
a0017
1 HG01192.hp2
HG01192.hp2
missense_variant MODERATE c.2378T>G
c.2378T>G
p.Leu793Arg
p.Leu793Arg
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 11/13 2558/3543 2378/2565 793/854 chr1 6457236
chr1:6460126 G
G
T
T
1 a0016
a0016
1 HG02056.hp1
HG02056.hp1
missense_variant MODERATE c.2545G>T
c.2545G>T
p.Gly849Trp
p.Gly849Trp
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 2725/3543 2545/2565 849/854 chr1 6460126

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
chr1:6425039 G
G
T
T
1 a0001c0031
a0001c0031
1 NA18994.hp2
NA18994.hp2
synonymous_variant LOW c.84G>T
c.84G>T
p.Gly28Gly
p.Gly28Gly
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 264/3543 84/2565 28/854 chr1 6425039
chr1:6440776 C
C
T
T
1 a0001c0027
a0001c0027
1 HG00438.hp1
HG00438.hp1
synonymous_variant LOW c.826C>T
c.826C>T
p.Leu276Leu
p.Leu276Leu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 4/13 1006/3543 826/2565 276/854 chr1 6440776
chr1:6440984 C
C
G
G
11 a0001c0002
a0001c0024
a0002c0004
others(8): Show 
a0001c0002
a0001c0024
a0002c0004
a0002c0025
a0004c0005
a0008c0022
a0008c0023
a0010c0011
a0011c0015
a0019c0026
a0021c0014
83 HG00423.hp2
HG00738.hp2
HG01070.hp1
others(80): Show 
HG00423.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20300.hp2
NA20905.hp2
synonymous_variant LOW c.909C>G
c.909C>G
p.Arg303Arg
p.Arg303Arg
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/13 1089/3543 909/2565 303/854 chr1 6440984
chr1:6448652 T
T
C
C
16 a0001c0009
a0001c0024
a0002c0003
others(13): Show 
a0001c0009
a0001c0024
a0002c0003
a0002c0004
a0002c0008
a0002c0016
a0002c0025
a0003c0006
a0006c0012
a0007c0013
a0008c0022
a0009c0010
a0010c0011
a0012c0029
a0013c0028
a0015c0017
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
synonymous_variant LOW c.1476T>C
c.1476T>C
p.Cys492Cys
p.Cys492Cys
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/13 1656/3543 1476/2565 492/854 chr1 6448652
chr1:6448769 G
G
A
A
1 a0002c0008
a0002c0008
2 HG03486.hp1
HG03516.hp1
HG03486.hp1
HG03516.hp1
synonymous_variant LOW c.1593G>A
c.1593G>A
p.Leu531Leu
p.Leu531Leu
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/13 1773/3543 1593/2565 531/854 chr1 6448769
chr1:6451841 G
G
A
A
2 a0002c0016
a0002c0025
a0002c0016
a0002c0025
2 HG02293.hp1
HG04115.hp2
HG02293.hp1
HG04115.hp2
synonymous_variant LOW c.2070G>A
c.2070G>A
p.Ser690Ser
p.Ser690Ser
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/13 2250/3543 2070/2565 690/854 chr1 6451841

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
chr1:6424818 C
C
T
T
10 a0001c0001t0003
a0001c0002t0003
a0001c0002t0014
others(7): Show 
a0001c0001t0003
a0001c0002t0003
a0001c0002t0014
a0002c0004t0003
a0004c0005t0003
a0007c0013t0006
a0010c0011t0003
a0018c0021t0003
a0019c0026t0003
a0021c0014t0003
54 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(51): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
5_prime_UTR_variant MODIFIER c.-138C>T
c.-138C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 138 chr1 6424818
chr1:6424820 A
A
G
G
32 a0001c0001t0002
a0001c0001t0003
a0001c0002t0002
others(29): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0014
a0001c0009t0002
a0001c0024t0002
a0002c0003t0002
a0002c0003t0010
a0002c0003t0011
a0002c0004t0002
a0002c0004t0003
a0002c0004t0009
a0002c0004t0012
a0002c0008t0002
a0003c0006t0002
a0004c0005t0003
a0005c0007t0002
a0006c0012t0002
a0007c0013t0006
a0008c0022t0013
a0008c0023t0005
a0010c0011t0003
a0011c0015t0002
a0012c0029t0008
a0013c0028t0002
a0015c0017t0002
a0018c0021t0003
a0019c0026t0003
a0020c0030t0002
a0021c0014t0003
139 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(136): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
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
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
5_prime_UTR_variant MODIFIER c.-136A>G
c.-136A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 136 chr1 6424820
chr1:6424902 A
A
G
G
4 a0001c0002t0005
a0002c0004t0012
a0008c0022t0013
others(1): Show 
a0001c0002t0005
a0002c0004t0012
a0008c0022t0013
a0008c0023t0005
4 HG01891.hp1
HG02809.hp2
HG03098.hp2
others(1): Show 
HG01891.hp1
HG02809.hp2
HG03098.hp2
NA19030.hp1
5_prime_UTR_variant MODIFIER c.-54A>G
c.-54A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/13 54 chr1 6424902
chr1:6460152 G
G
A
A
1 a0001c0001t0007
a0001c0001t0007
1 HG02056.hp2
HG02056.hp2
3_prime_UTR_variant MODIFIER c.*6G>A
c.*6G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 6 chr1 6460152
chr1:6460237 C
C
G
G
1 a0002c0003t0011
a0002c0003t0011
1 HG01884.hp2
HG01884.hp2
3_prime_UTR_variant MODIFIER c.*91C>G
c.*91C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 91 chr1 6460237
chr1:6460252 C
C
T
T
1 a0001c0001t0004
a0001c0001t0004
3 HG00323.hp1
HG01175.hp1
HG02257.hp1
HG00323.hp1
HG01175.hp1
HG02257.hp1
3_prime_UTR_variant MODIFIER c.*106C>T
c.*106C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 106 chr1 6460252
chr1:6460608 A
A
C
C
1 a0001c0002t0014
a0001c0002t0014
1 HG02293.hp2
HG02293.hp2
3_prime_UTR_variant MODIFIER c.*462A>C
c.*462A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 462 chr1 6460608
chr1:6460637 C
C
G
G
1 a0002c0003t0010
a0002c0003t0010
1 HG02818.hp2
HG02818.hp2
3_prime_UTR_variant MODIFIER c.*491C>G
c.*491C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 491 chr1 6460637
chr1:6460715 G
G
A
A
3 a0002c0004t0012
a0007c0013t0006
a0012c0029t0008
a0002c0004t0012
a0007c0013t0006
a0012c0029t0008
4 HG02451.hp1
HG02809.hp2
HG02896.hp1
others(1): Show 
HG02451.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
3_prime_UTR_variant MODIFIER c.*569G>A
c.*569G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 569 chr1 6460715
chr1:6460821 G
G
A
A
1 a0008c0022t0013
a0008c0022t0013
1 HG01891.hp1
HG01891.hp1
3_prime_UTR_variant MODIFIER c.*675G>A
c.*675G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 675 chr1 6460821
chr1:6460917 C
C
G
G
1 a0002c0004t0009
a0002c0004t0009
1 NA19043.hp2
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*771C>G
c.*771C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 13/13 771 chr1 6460917

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
chr1:6425727 G
G
T
T
46 a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
others(43): Show 
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
54 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(51): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
intron_variant MODIFIER c.294+478G>T
c.294+478G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6425727
chr1:6425806 C
C
A
A
6 a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
others(3): Show 
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0003c0006t0002g0029
a0015c0017t0002g0032
7 HG02615.hp1
HG02622.hp1
HG02622.hp2
others(4): Show 
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA19043.hp1
intron_variant MODIFIER c.294+557C>A
c.294+557C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6425806
chr1:6425903 T
T
G
G
1 a0004c0005t0003g0183
a0004c0005t0003g0183
1 NA18961.hp2
NA18961.hp2
intron_variant MODIFIER c.294+654T>G
c.294+654T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6425903
chr1:6425932 G
G
C
C
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.294+683G>C
c.294+683G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6425932
chr1:6425952 T
T
C
C
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.294+703T>C
c.294+703T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6425952
chr1:6426008 A
A
G
G
1 a0002c0004t0012g0049
a0002c0004t0012g0049
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.294+759A>G
c.294+759A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426008
chr1:6426038 A
A
G
G
3 a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
3 HG02895.hp2
HG03225.hp1
HG03579.hp1
HG02895.hp2
HG03225.hp1
HG03579.hp1
intron_variant MODIFIER c.294+789A>G
c.294+789A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426038
chr1:6426130 G
G
A
A
23 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(20): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0011c0015t0002g0064
23 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(20): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG02109.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.294+881G>A
c.294+881G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426130
chr1:6426159 G
G
A
A
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.294+910G>A
c.294+910G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426159
chr1:6426165 C
C
T
T
11 a0001c0001t0002g0045
a0001c0001t0002g0046
a0002c0003t0002g0005
others(8): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
14 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(11): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
intron_variant MODIFIER c.294+916C>T
c.294+916C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426165
chr1:6426272 A
A
G
G
1 a0005c0007t0002g0039
a0005c0007t0002g0039
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.294+1023A>G
c.294+1023A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426272
chr1:6426404 G
G
A
A
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.294+1155G>A
c.294+1155G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426404
chr1:6426494 A
A
T
T
4 a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
others(1): Show 
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
4 HG01167.hp2
HG01169.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG01169.hp2
HG03195.hp2
HG03540.hp2
intron_variant MODIFIER c.294+1245A>T
c.294+1245A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426494
chr1:6426559 G
G
A
A
1 a0001c0001t0001g0071
a0001c0001t0001g0071
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.294+1310G>A
c.294+1310G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426559
chr1:6426617 C
C
T
T
46 a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
others(43): Show 
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
54 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(51): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
intron_variant MODIFIER c.294+1368C>T
c.294+1368C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426617
chr1:6426783 G
G
A
A
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.295-1443G>A
c.295-1443G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426783
chr1:6426971 C
C
T
T
58 a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
others(55): Show 
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
71 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(68): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
intron_variant MODIFIER c.295-1255C>T
c.295-1255C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6426971
chr1:6427049 C
C
T
T
1 a0001c0001t0001g0170
a0001c0001t0001g0170
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.295-1177C>T
c.295-1177C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427049
chr1:6427121 C
C
A
A
1 a0001c0001t0001g0072
a0001c0001t0001g0072
1 HG01167.hp1
HG01167.hp1
intron_variant MODIFIER c.295-1105C>A
c.295-1105C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427121
chr1:6427166 C
C
T
T
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.295-1060C>T
c.295-1060C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427166
chr1:6427215 A
A
C
C
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.295-1011A>C
c.295-1011A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427215
chr1:6427375 C
C
T
T
5 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(2): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
9 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(6): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.295-851C>T
c.295-851C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427375
chr1:6427594 G
G
T
T
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.295-632G>T
c.295-632G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427594
chr1:6427653 G
G
A
A
1 a0002c0003t0002g0073
a0002c0003t0002g0073
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.295-573G>A
c.295-573G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427653
chr1:6427741 G
G
A
A
8 a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
others(5): Show 
a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
9 HG01891.hp1
HG02040.hp2
HG02135.hp1
others(6): Show 
HG01891.hp1
HG02040.hp2
HG02135.hp1
HG02809.hp2
HG03098.hp2
NA18955.hp1
NA18990.hp2
NA19010.hp1
NA19057.hp1
intron_variant MODIFIER c.295-485G>A
c.295-485G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427741
chr1:6427758 G
G
A
A
1 a0002c0003t0002g0073
a0002c0003t0002g0073
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.295-468G>A
c.295-468G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427758
chr1:6427917 G
G
A
A
41 a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0002t0002g0050
others(38): Show 
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0008t0002g0006
a0003c0006t0002g0029
a0006c0012t0002g0081
a0006c0012t0002g0084
a0011c0015t0002g0064
a0015c0017t0002g0032
43 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(40): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19043.hp1
NA19060.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.295-309G>A
c.295-309G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6427917
chr1:6428028 C
C
T
T
1 a0001c0001t0001g0169
a0001c0001t0001g0169
1 HG00323.hp2
HG00323.hp2
intron_variant MODIFIER c.295-198C>T
c.295-198C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6428028
chr1:6428063 G
G
A
A
23 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(20): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0011c0015t0002g0064
23 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(20): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG02109.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.295-163G>A
c.295-163G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 1/12 chr1 6428063
chr1:6428739 G
G
A
A
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.488+320G>A
c.488+320G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6428739
chr1:6428774 G
G
T
T
16 a0001c0001t0002g0082
a0002c0003t0002g0006
a0002c0003t0002g0013
others(13): Show 
a0001c0001t0002g0082
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0008t0002g0006
a0003c0006t0002g0029
a0006c0012t0002g0081
a0006c0012t0002g0084
a0015c0017t0002g0032
18 HG02280.hp1
HG02559.hp2
HG02615.hp1
others(15): Show 
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA21309.hp1
intron_variant MODIFIER c.488+355G>T
c.488+355G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6428774
chr1:6428775 C
C
T
T
16 a0001c0001t0002g0082
a0002c0003t0002g0006
a0002c0003t0002g0013
others(13): Show 
a0001c0001t0002g0082
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0008t0002g0006
a0003c0006t0002g0029
a0006c0012t0002g0081
a0006c0012t0002g0084
a0015c0017t0002g0032
18 HG02280.hp1
HG02559.hp2
HG02615.hp1
others(15): Show 
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA21309.hp1
intron_variant MODIFIER c.488+356C>T
c.488+356C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6428775
chr1:6428898 A
A
G
G
75 a0001c0001t0001g0011
a0001c0001t0001g0162
a0001c0001t0001g0163
others(72): Show 
a0001c0001t0001g0011
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0086
a0002c0003t0011g0040
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
89 HG00323.hp2
HG00423.hp2
HG00735.hp1
others(86): Show 
HG00323.hp2
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA18999.hp2
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
intron_variant MODIFIER c.488+479A>G
c.488+479A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6428898
chr1:6428961 A
A
G
G
1 a0001c0001t0001g0161
a0001c0001t0001g0161
1 HG00733.hp1
HG00733.hp1
intron_variant MODIFIER c.488+542A>G
c.488+542A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6428961
chr1:6429080 C
C
T
T
1 a0001c0001t0001g0160
a0001c0001t0001g0160
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.488+661C>T
c.488+661C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429080
chr1:6429090 T
T
C
C
4 a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
others(1): Show 
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
4 HG01167.hp2
HG01169.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG01169.hp2
HG03195.hp2
HG03540.hp2
intron_variant MODIFIER c.488+671T>C
c.488+671T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429090
chr1:6429094 GGGGA
GGGGA
G
G
34 a0001c0001t0003g0026
a0001c0002t0003g0004
a0001c0002t0003g0012
others(31): Show 
a0001c0001t0003g0026
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0007c0013t0006g0208
a0007c0013t0006g0209
a0019c0026t0003g0203
a0021c0014t0003g0198
41 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(38): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG02074.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA19240.hp2
intron_variant MODIFIER c.488+696_488+699del
others(4): Show 
c.488+696_488+699delGGGA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6429094
chr1:6429094 GGGGAGGG
others(1): Show 
GGGGAGGGA
G
G
6 a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
others(3): Show 
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0003c0006t0002g0029
a0015c0017t0002g0032
7 HG02615.hp1
HG02622.hp1
HG02622.hp2
others(4): Show 
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA19043.hp1
intron_variant MODIFIER c.488+692_488+699del
others(8): Show 
c.488+692_488+699delGGGAGGGA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6429094
chr1:6429218 G
G
A
A
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.488+799G>A
c.488+799G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429218
chr1:6429257 A
A
G
G
20 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(17): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
24 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+838A>G
c.488+838A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429257
chr1:6429304 C
C
T
T
65 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0026
others(62): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
77 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(74): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
intron_variant MODIFIER c.488+885C>T
c.488+885C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429304
chr1:6429473 C
C
T
T
3 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
3 HG02976.hp2
HG03139.hp2
NA18906.hp2
HG02976.hp2
HG03139.hp2
NA18906.hp2
intron_variant MODIFIER c.488+1054C>T
c.488+1054C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429473
chr1:6429480 T
T
C
C
3 a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
4 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(1): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG03831.hp1
intron_variant MODIFIER c.488+1061T>C
c.488+1061T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429480
chr1:6429487 G
G
C
C
66 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0026
others(63): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
78 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(75): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA19240.hp2
NA20905.hp2
intron_variant MODIFIER c.488+1068G>C
c.488+1068G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429487
chr1:6429516 C
C
T
T
100 a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
others(97): Show 
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0001c0024t0002g0057
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0008t0002g0006
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
115 HG00423.hp2
HG00738.hp2
HG01070.hp1
others(112): Show 
HG00423.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.488+1097C>T
c.488+1097C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429516
chr1:6429680 G
G
A
A
5 a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
others(2): Show 
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
5 HG02027.hp2
HG02683.hp1
NA18612.hp1
others(2): Show 
HG02027.hp2
HG02683.hp1
NA18612.hp1
NA18973.hp2
NA19002.hp1
intron_variant MODIFIER c.488+1261G>A
c.488+1261G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429680
chr1:6429723 G
G
A
A
1 a0001c0001t0001g0092
a0001c0001t0001g0092
1 NA18747.hp1
NA18747.hp1
intron_variant MODIFIER c.488+1304G>A
c.488+1304G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429723
chr1:6429782 C
C
T
T
2 a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0156
a0001c0001t0001g0157
2 NA19000.hp2
NA19066.hp1
NA19000.hp2
NA19066.hp1
intron_variant MODIFIER c.488+1363C>T
c.488+1363C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429782
chr1:6429806 C
C
T
T
21 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(18): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
25 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(22): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+1387C>T
c.488+1387C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429806
chr1:6429907 T
T
C
C
3 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
3 HG01891.hp1
HG02809.hp2
HG03098.hp2
HG01891.hp1
HG02809.hp2
HG03098.hp2
intron_variant MODIFIER c.488+1488T>C
c.488+1488T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429907
chr1:6429956 G
G
A
A
42 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(39): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
49 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(46): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.488+1537G>A
c.488+1537G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6429956
chr1:6430012 G
G
A
A
2 a0007c0013t0006g0208
a0007c0013t0006g0209
a0007c0013t0006g0208
a0007c0013t0006g0209
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.488+1593G>A
c.488+1593G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430012
chr1:6430165 C
C
A
A
18 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(15): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
22 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(19): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA19030.hp1
intron_variant MODIFIER c.488+1746C>A
c.488+1746C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430165
chr1:6430319 C
C
T
T
5 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(2): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
9 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(6): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.488+1900C>T
c.488+1900C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430319
chr1:6430377 G
G
C
C
23 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(20): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
27 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(24): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+1958G>C
c.488+1958G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430377
chr1:6430401 G
G
A
A
2 a0001c0001t0002g0079
a0002c0003t0010g0078
a0001c0001t0002g0079
a0002c0003t0010g0078
2 HG02818.hp2
HG06807.hp1
HG02818.hp2
HG06807.hp1
intron_variant MODIFIER c.488+1982G>A
c.488+1982G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430401
chr1:6430427 T
T
C
C
23 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(20): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
27 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(24): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+2008T>C
c.488+2008T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430427
chr1:6430428 A
A
G
G
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.488+2009A>G
c.488+2009A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430428
chr1:6430459 G
G
A
A
4 a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
others(1): Show 
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
5 HG02109.hp1
HG02258.hp2
HG02809.hp1
others(2): Show 
HG02109.hp1
HG02258.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
intron_variant MODIFIER c.488+2040G>A
c.488+2040G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430459
chr1:6430506 G
G
A
A
21 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(18): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
25 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(22): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+2087G>A
c.488+2087G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430506
chr1:6430532 G
G
A
A
23 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(20): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
27 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(24): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+2113G>A
c.488+2113G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6430532
chr1:6430631 CGTGGTGG
others(360): Show 
CGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGA
GAATCGCTTGAACCCGGCAGACGGAGGTTGCGGTGAGCCAAGATTGAGCC
ATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAGGGGGAA
AAAAAAAGAAAAAAAAAAGGCATCTCTCAGTTGGGAGGCATGGGGCTGGC
AGGAGCCGGGCTGGGCAAGTCCCAGGCTCTGGGTCTCAGGGAGATTGAGT
TGGGAGGATTGGCCCTCCCGGCAGGAGCTCCAGTGGCTGATGGAGGGGAA
CAAGGGGTCCAGATCCCTAATCAGGGCAGAGTGAGGAGGGGCAAAGAGCA
GGTGGCCCCAAGGCCGGT
C
C
2 a0007c0013t0006g0208
a0007c0013t0006g0209
a0007c0013t0006g0208
a0007c0013t0006g0209
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.488+2214_488+2580d
others(2): Show 
c.488+2214_488+2580del
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6430631
chr1:6431181 C
C
T
T
1 a0002c0004t0003g0219
a0002c0004t0003g0219
1 HG02027.hp1
HG02027.hp1
intron_variant MODIFIER c.488+2762C>T
c.488+2762C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431181
chr1:6431189 C
C
T
T
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.488+2770C>T
c.488+2770C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431189
chr1:6431269 C
C
T
T
1 a0001c0001t0001g0155
a0001c0001t0001g0155
1 HG00609.hp2
HG00609.hp2
intron_variant MODIFIER c.488+2850C>T
c.488+2850C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431269
chr1:6431337 G
G
A
A
8 a0001c0001t0002g0079
a0002c0003t0010g0078
a0002c0004t0002g0003
others(5): Show 
a0001c0001t0002g0079
a0002c0003t0010g0078
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
a0012c0029t0008g0174
12 HG01884.hp1
HG02055.hp1
HG02451.hp1
others(9): Show 
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
HG06807.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.488+2918G>A
c.488+2918G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431337
chr1:6431483 A
A
G
G
2 a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0153
a0001c0001t0001g0154
2 NA18975.hp1
NA19091.hp2
NA18975.hp1
NA19091.hp2
intron_variant MODIFIER c.488+3064A>G
c.488+3064A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431483
chr1:6431515 C
C
T
T
23 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(20): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
27 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(24): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+3096C>T
c.488+3096C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6431515
chr1:6431628 C
C
CA
CA
29 a0001c0001t0001g0007
a0001c0001t0001g0017
a0001c0001t0001g0018
others(26): Show 
a0001c0001t0001g0007
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0070
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0169
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0031t0001g0094
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0010g0078
a0002c0003t0011g0040
a0012c0029t0008g0174
a0013c0028t0002g0175
36 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(33): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00735.hp1
HG01074.hp2
HG01361.hp2
HG01884.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02572.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp2
HG03017.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18950.hp2
NA18952.hp1
NA18994.hp2
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19091.hp1
NA19240.hp1
intron_variant MODIFIER c.488+3234dupA
c.488+3234dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 C
C
CAA
CAA
9 a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0088
others(6): Show 
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0088
a0002c0003t0002g0041
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0009g0177
a0016c0019t0001g0093
13 HG01175.hp2
HG01884.hp1
HG02040.hp1
others(10): Show 
HG01175.hp2
HG01884.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA18612.hp1
NA19002.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.488+3233_488+3234d
others(4): Show 
c.488+3233_488+3234dupAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 CA
CA
C
C
24 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0003g0218
others(21): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0003g0218
a0001c0001t0004g0148
a0001c0002t0003g0188
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0009t0002g0038
a0002c0003t0001g0151
a0002c0003t0002g0073
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0009c0010t0001g0022
a0020c0030t0002g0158
26 HG00323.hp1
HG00738.hp1
HG01167.hp2
others(23): Show 
HG00323.hp1
HG00738.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02083.hp1
HG02293.hp1
HG02559.hp1
HG02630.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp2
HG03942.hp1
NA18949.hp1
NA18961.hp2
intron_variant MODIFIER c.488+3234delA
c.488+3234delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 CAAAAAAA
others(1): Show 
CAAAAAAAA
C
C
25 a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
others(22): Show 
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0014g0184
a0002c0003t0002g0028
a0002c0003t0002g0080
a0019c0026t0003g0203
a0021c0014t0003g0198
31 HG00423.hp2
HG01109.hp2
HG02074.hp2
others(28): Show 
HG00423.hp2
HG01109.hp2
HG02074.hp2
HG02145.hp2
HG02165.hp2
HG02293.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03471.hp1
HG03486.hp2
HG03579.hp2
HG03834.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18950.hp1
NA18952.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
intron_variant MODIFIER c.488+3227_488+3234d
others(10): Show 
c.488+3227_488+3234delAAAAAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 CAAAAAAA
others(2): Show 
CAAAAAAAAA
C
C
37 a0001c0001t0002g0082
a0001c0002t0002g0050
a0001c0002t0002g0051
others(34): Show 
a0001c0001t0002g0082
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0008t0002g0006
a0003c0006t0002g0029
a0006c0012t0002g0081
a0006c0012t0002g0084
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0015c0017t0002g0032
39 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(36): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.488+3226_488+3234d
others(11): Show 
c.488+3226_488+3234delAAAAAAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
C
C
1 a0002c0004t0002g0069
a0002c0004t0002g0069
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.488+3225_488+3234d
others(12): Show 
c.488+3225_488+3234delAAAAAAAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431628 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
C
C
1 a0001c0001t0001g0152
a0001c0001t0001g0152
1 HG01257.hp1
HG01257.hp1
intron_variant MODIFIER c.488+3224_488+3234d
others(13): Show 
c.488+3224_488+3234delAAAAAAAAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431628
chr1:6431740 GCACCACC
others(6): Show 
GCACCACCCAGTGT
G
G
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.488+3324_488+3336d
others(15): Show 
c.488+3324_488+3336delCCACCCAGTGTCA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6431740
chr1:6432041 G
G
A
A
1 a0001c0001t0001g0104
a0001c0001t0001g0104
1 NA18962.hp2
NA18962.hp2
intron_variant MODIFIER c.488+3622G>A
c.488+3622G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432041
chr1:6432051 C
C
T
T
1 a0002c0003t0002g0047
a0002c0003t0002g0047
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.488+3632C>T
c.488+3632C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432051
chr1:6432251 G
G
C
C
2 a0001c0002t0005g0033
a0008c0022t0013g0034
a0001c0002t0005g0033
a0008c0022t0013g0034
2 HG01891.hp1
HG03098.hp2
HG01891.hp1
HG03098.hp2
intron_variant MODIFIER c.488+3832G>C
c.488+3832G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432251
chr1:6432273 C
C
T
T
25 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(22): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
25 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(22): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.488+3854C>T
c.488+3854C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432273
chr1:6432286 A
A
G
G
79 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(76): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0012c0029t0008g0174
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
95 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(92): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
intron_variant MODIFIER c.488+3867A>G
c.488+3867A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432286
chr1:6432492 C
C
T
T
1 a0001c0001t0001g0168
a0001c0001t0001g0168
1 NA18973.hp1
NA18973.hp1
intron_variant MODIFIER c.488+4073C>T
c.488+4073C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6432492
chr1:6433054 G
G
A
A
1 a0001c0001t0001g0153
a0001c0001t0001g0153
1 NA19091.hp2
NA19091.hp2
intron_variant MODIFIER c.488+4635G>A
c.488+4635G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433054
chr1:6433079 A
A
G
G
69 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(66): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
80 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(77): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
intron_variant MODIFIER c.488+4660A>G
c.488+4660A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433079
chr1:6433105 G
G
T
T
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.488+4686G>T
c.488+4686G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433105
chr1:6433121 C
C
T
T
3 a0002c0003t0002g0006
a0002c0003t0002g0085
a0002c0008t0002g0006
a0002c0003t0002g0006
a0002c0003t0002g0085
a0002c0008t0002g0006
4 HG02559.hp2
HG03098.hp1
HG03486.hp1
others(1): Show 
HG02559.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
intron_variant MODIFIER c.488+4702C>T
c.488+4702C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433121
chr1:6433132 A
A
AAAAAAG
AAAAAAG
68 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(65): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0013c0028t0002g0175
a0019c0026t0003g0203
a0021c0014t0003g0198
79 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(76): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
intron_variant MODIFIER c.488+4718_488+4723d
others(8): Show 
c.488+4718_488+4723dupAGAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6433132
chr1:6433133 A
A
AAAAAGAA
others(4): Show 
AAAAAGAAAAAG
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.488+4723_488+4724i
others(13): Show 
c.488+4723_488+4724insAGAAAAGAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6433133
chr1:6433201 T
T
C
C
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.488+4782T>C
c.488+4782T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433201
chr1:6433269 C
C
T
T
3 a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
3 HG02451.hp1
HG02818.hp2
HG06807.hp1
HG02451.hp1
HG02818.hp2
HG06807.hp1
intron_variant MODIFIER c.488+4850C>T
c.488+4850C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433269
chr1:6433274 C
C
T
T
1 a0001c0027t0001g0147
a0001c0027t0001g0147
1 HG00438.hp1
HG00438.hp1
intron_variant MODIFIER c.488+4855C>T
c.488+4855C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433274
chr1:6433403 T
T
C
C
124 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(121): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
145 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(142): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.488+4984T>C
c.488+4984T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433403
chr1:6433514 T
T
G
G
6 a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
others(3): Show 
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0013c0028t0002g0175
7 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.488+5095T>G
c.488+5095T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433514
chr1:6433538 C
C
A
A
1 a0001c0001t0001g0108
a0001c0001t0001g0108
1 NA19060.hp1
NA19060.hp1
intron_variant MODIFIER c.488+5119C>A
c.488+5119C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433538
chr1:6433542 G
G
A
A
5 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(2): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
9 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(6): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.488+5123G>A
c.488+5123G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433542
chr1:6433586 A
A
G
G
1 a0001c0002t0002g0068
a0001c0002t0002g0068
1 HG01106.hp1
HG01106.hp1
intron_variant MODIFIER c.488+5167A>G
c.488+5167A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433586
chr1:6433606 C
C
CA
CA
60 a0001c0001t0001g0074
a0001c0001t0002g0082
a0001c0001t0003g0218
others(57): Show 
a0001c0001t0001g0074
a0001c0001t0002g0082
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0014g0184
a0001c0031t0001g0094
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0048
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0008t0002g0006
a0002c0025t0001g0159
a0003c0006t0002g0029
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0015c0017t0002g0032
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
69 HG00423.hp2
HG01109.hp2
HG01169.hp2
others(66): Show 
HG00423.hp2
HG01109.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp1
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
NA21309.hp1
intron_variant MODIFIER c.488+5201dupA
c.488+5201dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6433606
chr1:6433606 C
C
CAA
CAA
19 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0003g0186
others(16): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0003g0186
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0008c0022t0013g0034
a0008c0023t0005g0035
22 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(19): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA18955.hp2
NA19030.hp1
intron_variant MODIFIER c.488+5200_488+5201d
others(4): Show 
c.488+5200_488+5201dupAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6433606
chr1:6433616 A
A
AG
AG
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.488+5197_488+5198i
others(3): Show 
c.488+5197_488+5198insG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433616
chr1:6433640 C
C
G
G
6 a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
others(3): Show 
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0013c0028t0002g0175
7 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.488+5221C>G
c.488+5221C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433640
chr1:6433718 A
A
G
G
6 a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
others(3): Show 
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0013c0028t0002g0175
7 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.488+5299A>G
c.488+5299A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433718
chr1:6433732 C
C
T
T
19 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
others(16): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0012g0049
a0008c0022t0013g0034
a0008c0023t0005g0035
22 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(19): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.488+5313C>T
c.488+5313C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433732
chr1:6433778 A
A
C
C
71 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(68): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
83 HG00423.hp2
HG00735.hp1
HG01074.hp2
others(80): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
intron_variant MODIFIER c.488+5359A>C
c.488+5359A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433778
chr1:6433791 C
C
T
T
1 a0001c0001t0001g0169
a0001c0001t0001g0169
1 HG00323.hp2
HG00323.hp2
intron_variant MODIFIER c.488+5372C>T
c.488+5372C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433791
chr1:6433938 G
G
A
A
1 a0013c0028t0002g0175
a0013c0028t0002g0175
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.488+5519G>A
c.488+5519G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6433938
chr1:6434026 G
G
A
A
55 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0082
others(52): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0082
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0008t0002g0006
a0003c0006t0002g0029
a0006c0012t0002g0081
a0006c0012t0002g0084
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0015c0017t0002g0032
60 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(57): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.488+5607G>A
c.488+5607G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434026
chr1:6434206 C
C
T
T
1 a0001c0031t0001g0094
a0001c0031t0001g0094
1 NA18994.hp2
NA18994.hp2
intron_variant MODIFIER c.488+5787C>T
c.488+5787C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434206
chr1:6434300 A
A
G
G
1 a0001c0001t0001g0146
a0001c0001t0001g0146
1 HG01243.hp2
HG01243.hp2
intron_variant MODIFIER c.488+5881A>G
c.488+5881A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434300
chr1:6434339 C
C
T
T
57 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(54): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0009g0177
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0020c0030t0002g0158
65 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(62): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
intron_variant MODIFIER c.489-5915C>T
c.489-5915C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434339
chr1:6434426 C
C
A
A
1 a0016c0019t0001g0093
a0016c0019t0001g0093
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.489-5828C>A
c.489-5828C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434426
chr1:6434436 A
A
G
G
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.489-5818A>G
c.489-5818A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434436
chr1:6434640 C
C
T
T
1 a0001c0001t0001g0108
a0001c0001t0001g0108
1 NA19060.hp1
NA19060.hp1
intron_variant MODIFIER c.489-5614C>T
c.489-5614C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434640
chr1:6434683 G
G
T
T
43 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(40): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0019c0026t0003g0203
a0021c0014t0003g0198
51 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(48): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.489-5571G>T
c.489-5571G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434683
chr1:6434692 G
G
A
A
1 a0001c0001t0001g0095
a0001c0001t0001g0095
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.489-5562G>A
c.489-5562G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434692
chr1:6434699 C
C
T
T
4 a0001c0002t0003g0025
a0001c0002t0003g0205
a0001c0002t0003g0206
others(1): Show 
a0001c0002t0003g0025
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
5 HG01109.hp2
HG02451.hp2
HG02723.hp2
others(2): Show 
HG01109.hp2
HG02451.hp2
HG02723.hp2
HG03486.hp2
HG03579.hp2
intron_variant MODIFIER c.489-5555C>T
c.489-5555C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434699
chr1:6434708 T
T
C
C
1 a0001c0001t0001g0109
a0001c0001t0001g0109
1 HG01261.hp2
HG01261.hp2
intron_variant MODIFIER c.489-5546T>C
c.489-5546T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434708
chr1:6434716 T
T
C
C
6 a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
others(3): Show 
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0013c0028t0002g0175
7 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.489-5538T>C
c.489-5538T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434716
chr1:6434795 CA
CA
C
C
11 a0001c0001t0002g0045
a0001c0001t0002g0046
a0002c0003t0002g0005
others(8): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0011g0040
14 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(11): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
intron_variant MODIFIER c.489-5458delA
c.489-5458delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434795
chr1:6434850 A
A
G
G
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.489-5404A>G
c.489-5404A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434850
chr1:6434854 G
G
A
A
3 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
3 HG02976.hp2
HG03139.hp2
NA18906.hp2
HG02976.hp2
HG03139.hp2
NA18906.hp2
intron_variant MODIFIER c.489-5400G>A
c.489-5400G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6434854
chr1:6435139 T
T
C
C
15 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(12): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
18 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(15): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-5115T>C
c.489-5115T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435139
chr1:6435167 C
C
T
T
1 a0001c0001t0001g0145
a0001c0001t0001g0145
1 HG00735.hp2
HG00735.hp2
intron_variant MODIFIER c.489-5087C>T
c.489-5087C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435167
chr1:6435204 A
A
T
T
1 a0001c0001t0001g0144
a0001c0001t0001g0144
1 HG01099.hp2
HG01099.hp2
intron_variant MODIFIER c.489-5050A>T
c.489-5050A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435204
chr1:6435230 T
T
G
G
1 a0001c0001t0001g0110
a0001c0001t0001g0110
1 HG03834.hp1
HG03834.hp1
intron_variant MODIFIER c.489-5024T>G
c.489-5024T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435230
chr1:6435284 A
A
C
C
3 a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
3 HG02451.hp1
HG02818.hp2
HG06807.hp1
HG02451.hp1
HG02818.hp2
HG06807.hp1
intron_variant MODIFIER c.489-4970A>C
c.489-4970A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435284
chr1:6435321 CCCGGGTC
others(8): Show 
CCCGGGTCTGGCCCCA
C
C
25 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(22): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
25 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(22): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.489-4932_489-4918d
others(17): Show 
c.489-4932_489-4918delCCGGGTCTGGCCCCA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435321
chr1:6435388 C
C
T
T
1 a0001c0002t0003g0204
a0001c0002t0003g0204
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.489-4866C>T
c.489-4866C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435388
chr1:6435477 G
G
A
A
1 a0006c0012t0002g0081
a0006c0012t0002g0081
1 HG02280.hp1
HG02280.hp1
intron_variant MODIFIER c.489-4777G>A
c.489-4777G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435477
chr1:6435512 G
G
C
C
33 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(30): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
34 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.489-4742G>C
c.489-4742G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435512
chr1:6435601 C
C
A
A
96 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(93): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
108 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(105): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.489-4653C>A
c.489-4653C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435601
chr1:6435613 G
G
A
A
1 a0003c0006t0002g0176
a0003c0006t0002g0176
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.489-4641G>A
c.489-4641G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435613
chr1:6435627 C
C
T
T
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.489-4627C>T
c.489-4627C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435627
chr1:6435743 A
A
G
G
1 a0001c0001t0002g0046
a0001c0001t0002g0046
1 HG01361.hp2
HG01361.hp2
intron_variant MODIFIER c.489-4511A>G
c.489-4511A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435743
chr1:6435941 G
G
A
A
1 a0001c0002t0003g0189
a0001c0002t0003g0189
1 NA18985.hp2
NA18985.hp2
intron_variant MODIFIER c.489-4313G>A
c.489-4313G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435941
chr1:6435954 G
G
A
A
1 a0014c0020t0001g0111
a0014c0020t0001g0111
1 HG01255.hp2
HG01255.hp2
intron_variant MODIFIER c.489-4300G>A
c.489-4300G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6435954
chr1:6436042 T
T
G
G
1 a0001c0002t0003g0205
a0001c0002t0003g0205
1 HG02451.hp2
HG02451.hp2
intron_variant MODIFIER c.489-4212T>G
c.489-4212T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436042
chr1:6436076 G
G
A
A
1 a0017c0018t0001g0112
a0017c0018t0001g0112
1 HG01192.hp2
HG01192.hp2
intron_variant MODIFIER c.489-4178G>A
c.489-4178G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436076
chr1:6436124 G
G
A
A
4 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
others(1): Show 
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0008c0023t0005g0035
4 HG01891.hp1
HG02809.hp2
HG03098.hp2
others(1): Show 
HG01891.hp1
HG02809.hp2
HG03098.hp2
NA19030.hp1
intron_variant MODIFIER c.489-4130G>A
c.489-4130G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436124
chr1:6436172 AG
AG
A
A
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.489-4078delG
c.489-4078delG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436172
chr1:6436305 G
G
A
A
17 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(14): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0005c0007t0002g0014
a0005c0007t0002g0039
21 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(18): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3949G>A
c.489-3949G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436305
chr1:6436328 T
T
C
C
15 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(12): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
18 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(15): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3926T>C
c.489-3926T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436328
chr1:6436403 T
T
C
C
4 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
others(1): Show 
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0008c0023t0005g0035
4 HG01891.hp1
HG02809.hp2
HG03098.hp2
others(1): Show 
HG01891.hp1
HG02809.hp2
HG03098.hp2
NA19030.hp1
intron_variant MODIFIER c.489-3851T>C
c.489-3851T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436403
chr1:6436477 T
T
TTTA
TTTA
77 a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
others(74): Show 
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0219
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
85 HG00423.hp2
HG01070.hp1
HG01071.hp1
others(82): Show 
HG00423.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG03942.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.489-3775_489-3774i
others(5): Show 
c.489-3775_489-3774insATT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436477
chr1:6436477 TTTTTC
TTTTTC
T
T
14 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(11): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
17 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(14): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3774_489-3770d
others(7): Show 
c.489-3774_489-3770delTTCTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436477
chr1:6436480 T
T
A
A
6 a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
others(3): Show 
a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
7 HG00738.hp2
HG02055.hp2
HG02559.hp1
others(4): Show 
HG00738.hp2
HG02055.hp2
HG02559.hp1
HG02717.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp2
intron_variant MODIFIER c.489-3774T>A
c.489-3774T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436480
chr1:6436481 TC
TC
T
T
6 a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
others(3): Show 
a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
7 HG00738.hp2
HG02055.hp2
HG02559.hp1
others(4): Show 
HG00738.hp2
HG02055.hp2
HG02559.hp1
HG02717.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp2
intron_variant MODIFIER c.489-3772delC
c.489-3772delC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436481
chr1:6436482 C
C
CTTAT
CTTAT
88 a0001c0001t0001g0007
a0001c0001t0001g0017
a0001c0001t0001g0018
others(85): Show 
a0001c0001t0001g0007
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0154
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0169
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0004t0002g0052
a0002c0008t0002g0006
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0008c0022t0013g0034
a0009c0010t0001g0022
a0012c0029t0008g0174
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0018c0021t0003g0212
a0019c0026t0003g0203
a0021c0014t0003g0198
103 HG00323.hp1
HG00323.hp2
HG00423.hp1
others(100): Show 
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01891.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
intron_variant MODIFIER c.489-3737_489-3734d
others(6): Show 
c.489-3737_489-3734dupATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436482 C
C
CTTATTTA
others(1): Show 
CTTATTTAT
8 a0001c0001t0001g0019
a0001c0001t0001g0096
a0001c0001t0003g0218
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0096
a0001c0001t0003g0218
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0002c0003t0010g0078
a0002c0004t0003g0219
9 HG02027.hp1
HG02818.hp2
HG02886.hp2
others(6): Show 
HG02027.hp1
HG02818.hp2
HG02886.hp2
HG03471.hp1
HG03942.hp1
HG04228.hp2
NA18944.hp2
NA18969.hp2
NA19091.hp1
intron_variant MODIFIER c.489-3741_489-3734d
others(10): Show 
c.489-3741_489-3734dupATTTATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436482 C
C
CTTATTTA
others(5): Show 
CTTATTTATTTAT
6 a0001c0002t0003g0213
a0004c0005t0003g0183
a0004c0005t0003g0214
others(3): Show 
a0001c0002t0003g0213
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
6 HG01993.hp2
HG02083.hp1
NA18949.hp1
others(3): Show 
HG01993.hp2
HG02083.hp1
NA18949.hp1
NA18961.hp2
NA19009.hp1
NA20905.hp2
intron_variant MODIFIER c.489-3745_489-3734d
others(14): Show 
c.489-3745_489-3734dupATTTATTTATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436482 C
C
CTTATTTA
others(9): Show 
CTTATTTATTTATTTAT
1 a0004c0005t0003g0027
a0004c0005t0003g0027
2 HG01255.hp1
HG01433.hp2
HG01255.hp1
HG01433.hp2
intron_variant MODIFIER c.489-3749_489-3734d
others(18): Show 
c.489-3749_489-3734dupATTTATTTATTTATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436482 CTTAT
CTTAT
C
C
3 a0001c0001t0001g0071
a0001c0001t0001g0092
a0001c0001t0001g0140
a0001c0001t0001g0071
a0001c0001t0001g0092
a0001c0001t0001g0140
3 HG01261.hp1
HG02040.hp1
NA18747.hp1
HG01261.hp1
HG02040.hp1
NA18747.hp1
intron_variant MODIFIER c.489-3737_489-3734d
others(6): Show 
c.489-3737_489-3734delATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436482 CTTATTTA
others(1): Show 
CTTATTTAT
C
C
4 a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
others(1): Show 
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0145
4 HG00735.hp2
HG01346.hp2
HG01361.hp1
others(1): Show 
HG00735.hp2
HG01346.hp2
HG01361.hp1
HG01993.hp1
intron_variant MODIFIER c.489-3741_489-3734d
others(10): Show 
c.489-3741_489-3734delATTTATTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6436482
chr1:6436485 A
A
T
T
6 a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
others(3): Show 
a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
7 HG00738.hp2
HG02055.hp2
HG02559.hp1
others(4): Show 
HG00738.hp2
HG02055.hp2
HG02559.hp1
HG02717.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp2
intron_variant MODIFIER c.489-3769A>T
c.489-3769A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436485
chr1:6436486 T
T
C
C
6 a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
others(3): Show 
a0001c0002t0002g0067
a0002c0003t0002g0043
a0002c0004t0003g0185
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
7 HG00738.hp2
HG02055.hp2
HG02559.hp1
others(4): Show 
HG00738.hp2
HG02055.hp2
HG02559.hp1
HG02717.hp2
HG02809.hp2
HG03209.hp1
HG03516.hp2
intron_variant MODIFIER c.489-3768T>C
c.489-3768T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436486
chr1:6436489 A
A
T
T
14 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(11): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
17 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(14): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3765A>T
c.489-3765A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436489
chr1:6436490 T
T
C
C
14 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(11): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
17 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(14): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3764T>C
c.489-3764T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436490
chr1:6436829 C
C
A
A
97 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(94): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
109 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(106): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.489-3425C>A
c.489-3425C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436829
chr1:6436912 G
G
C
C
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.489-3342G>C
c.489-3342G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436912
chr1:6436992 C
C
A
A
5 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(2): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
9 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(6): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.489-3262C>A
c.489-3262C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436992
chr1:6436997 T
T
C
C
223 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(220): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
263 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(260): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.489-3257T>C
c.489-3257T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6436997
chr1:6437015 T
T
C
C
41 a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
others(38): Show 
a0001c0001t0003g0218
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.489-3239T>C
c.489-3239T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437015
chr1:6437096 G
G
A
A
18 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(15): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0005c0007t0002g0014
a0005c0007t0002g0039
a0020c0030t0002g0158
22 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(19): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-3158G>A
c.489-3158G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437096
chr1:6437106 A
A
G
G
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.489-3148A>G
c.489-3148A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437106
chr1:6437142 C
C
T
T
38 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(35): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0012g0049
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
39 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(36): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02622.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.489-3112C>T
c.489-3112C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437142
chr1:6437171 C
C
T
T
25 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(22): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
25 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(22): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.489-3083C>T
c.489-3083C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437171
chr1:6437179 C
C
T
T
1 a0002c0003t0002g0073
a0002c0003t0002g0073
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.489-3075C>T
c.489-3075C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437179
chr1:6437327 GC
GC
G
G
97 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
others(94): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0003g0218
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
109 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(106): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.489-2920delC
c.489-2920delC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6437327
chr1:6437491 C
C
G
G
1 a0002c0003t0002g0086
a0002c0003t0002g0086
1 NA21309.hp1
NA21309.hp1
intron_variant MODIFIER c.489-2763C>G
c.489-2763C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437491
chr1:6437598 C
C
T
T
18 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(15): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0011g0040
a0005c0007t0002g0014
a0005c0007t0002g0039
a0020c0030t0002g0158
22 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(19): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
intron_variant MODIFIER c.489-2656C>T
c.489-2656C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437598
chr1:6437620 C
C
T
T
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG02132.hp2
HG02132.hp2
intron_variant MODIFIER c.489-2634C>T
c.489-2634C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437620
chr1:6437623 C
C
T
T
1 a0001c0001t0001g0143
a0001c0001t0001g0143
1 HG01993.hp1
HG01993.hp1
intron_variant MODIFIER c.489-2631C>T
c.489-2631C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437623
chr1:6437798 A
A
T
T
3 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
3 HG01891.hp1
HG02809.hp2
HG03098.hp2
HG01891.hp1
HG02809.hp2
HG03098.hp2
intron_variant MODIFIER c.489-2456A>T
c.489-2456A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437798
chr1:6437890 C
C
T
T
1 a0019c0026t0003g0203
a0019c0026t0003g0203
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.489-2364C>T
c.489-2364C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437890
chr1:6437912 G
G
T
T
5 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(2): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0009c0010t0001g0022
8 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(5): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.489-2342G>T
c.489-2342G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6437912
chr1:6438013 C
C
T
T
1 a0001c0001t0001g0136
a0001c0001t0001g0136
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.489-2241C>T
c.489-2241C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438013
chr1:6438014 G
G
A
A
4 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
others(1): Show 
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0008c0023t0005g0035
4 HG01891.hp1
HG02809.hp2
HG03098.hp2
others(1): Show 
HG01891.hp1
HG02809.hp2
HG03098.hp2
NA19030.hp1
intron_variant MODIFIER c.489-2240G>A
c.489-2240G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438014
chr1:6438102 G
G
T
T
40 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(37): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
a0002c0008t0002g0006
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0012c0029t0008g0174
a0015c0017t0002g0032
a0020c0030t0002g0158
50 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(47): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03831.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20300.hp2
NA21309.hp1
intron_variant MODIFIER c.489-2152G>T
c.489-2152G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438102
chr1:6438166 C
C
T
T
1 a0001c0001t0001g0153
a0001c0001t0001g0153
1 NA19091.hp2
NA19091.hp2
intron_variant MODIFIER c.489-2088C>T
c.489-2088C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438166
chr1:6438188 A
A
G
G
28 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(25): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
29 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(26): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG04228.hp1
HG06807.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.489-2066A>G
c.489-2066A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438188
chr1:6438380 G
G
A
A
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.489-1874G>A
c.489-1874G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438380
chr1:6438727 C
C
T
T
3 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
3 HG02976.hp2
HG03139.hp2
NA18906.hp2
HG02976.hp2
HG03139.hp2
NA18906.hp2
intron_variant MODIFIER c.489-1527C>T
c.489-1527C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438727
chr1:6438839 C
C
T
T
1 a0001c0001t0001g0157
a0001c0001t0001g0157
1 NA19066.hp1
NA19066.hp1
intron_variant MODIFIER c.489-1415C>T
c.489-1415C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438839
chr1:6438848 A
A
G
G
7 a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
others(4): Show 
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0013c0028t0002g0175
8 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(5): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02622.hp2
HG02809.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.489-1406A>G
c.489-1406A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438848
chr1:6438849 C
C
T
T
1 a0001c0001t0003g0218
a0001c0001t0003g0218
1 HG03942.hp1
HG03942.hp1
intron_variant MODIFIER c.489-1405C>T
c.489-1405C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438849
chr1:6438908 C
C
T
T
62 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(59): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0009g0177
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0020c0030t0002g0158
71 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(68): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
intron_variant MODIFIER c.489-1346C>T
c.489-1346C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6438908
chr1:6439099 A
A
C
C
6 a0001c0001t0002g0045
a0002c0003t0002g0005
a0002c0003t0002g0015
others(3): Show 
a0001c0001t0002g0045
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
9 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(6): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG03209.hp2
HG03669.hp1
HG03831.hp1
intron_variant MODIFIER c.489-1155A>C
c.489-1155A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6439099
chr1:6439349 A
A
C
C
34 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(31): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
35 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(32): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02622.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.489-905A>C
c.489-905A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6439349
chr1:6439508 G
G
A
A
1 a0003c0006t0002g0176
a0003c0006t0002g0176
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.489-746G>A
c.489-746G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6439508
chr1:6439940 C
C
T
T
1 a0002c0004t0002g0069
a0002c0004t0002g0069
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.489-314C>T
c.489-314C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6439940
chr1:6439992 G
G
A
A
3 a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
a0001c0002t0005g0033
a0002c0004t0012g0049
a0008c0022t0013g0034
3 HG01891.hp1
HG02809.hp2
HG03098.hp2
HG01891.hp1
HG02809.hp2
HG03098.hp2
intron_variant MODIFIER c.489-262G>A
c.489-262G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6439992
chr1:6439999 ACTT
ACTT
A
A
5 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(2): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
9 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(6): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.489-249_489-247del
others(3): Show 
c.489-249_489-247delTCT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6439999
chr1:6440008 C
C
CA
CA
73 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(70): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0021c0014t0003g0198
81 HG00423.hp2
HG00738.hp2
HG01070.hp1
others(78): Show 
HG00423.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01433.hp2
HG01516.hp2
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
intron_variant MODIFIER c.489-236dupA
c.489-236dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 INFO_REALIGN_3_PRIME chr1 6440008
chr1:6440031 G
G
A
A
6 a0001c0002t0002g0055
a0002c0003t0002g0054
a0002c0004t0002g0056
others(3): Show 
a0001c0002t0002g0055
a0002c0003t0002g0054
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
6 HG02109.hp2
HG02895.hp2
HG02970.hp1
others(3): Show 
HG02109.hp2
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03579.hp1
NA18522.hp2
intron_variant MODIFIER c.489-223G>A
c.489-223G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6440031
chr1:6440085 G
G
T
T
29 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(26): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0003t0002g0054
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0003c0006t0002g0029
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
29 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(26): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02622.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA20129.hp1
intron_variant MODIFIER c.489-169G>T
c.489-169G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6440085
chr1:6440133 G
G
C
C
2 a0007c0013t0006g0208
a0007c0013t0006g0209
a0007c0013t0006g0208
a0007c0013t0006g0209
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.489-121G>C
c.489-121G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6440133
chr1:6440244 G
G
C
C
1 a0016c0019t0001g0093
a0016c0019t0001g0093
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.489-10G>C
c.489-10G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 2/12 chr1 6440244
chr1:6440449 C
C
T
T
3 a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
a0001c0001t0002g0079
a0002c0003t0010g0078
a0012c0029t0008g0174
3 HG02451.hp1
HG02818.hp2
HG06807.hp1
HG02451.hp1
HG02818.hp2
HG06807.hp1
intron_variant MODIFIER c.675+9C>T
c.675+9C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440449
chr1:6440480 C
C
G
G
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.675+40C>G
c.675+40C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440480
chr1:6440487 G
G
A
A
19 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
others(16): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0005c0007t0002g0014
a0005c0007t0002g0039
23 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(20): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01884.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA21309.hp2
intron_variant MODIFIER c.675+47G>A
c.675+47G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440487
chr1:6440512 G
G
T
T
1 a0002c0003t0002g0042
a0002c0003t0002g0042
1 HG00735.hp1
HG00735.hp1
intron_variant MODIFIER c.675+72G>T
c.675+72G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440512
chr1:6440530 C
C
CG
CG
140 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(137): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0095
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0003g0004
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0221
a0001c0002t0003g0223
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0031
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0179
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0173
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0021c0014t0003g0198
178 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(175): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03831.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18961.hp1
NA18961.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.676-89dupG
c.676-89dupG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 INFO_REALIGN_3_PRIME chr1 6440530
chr1:6440530 C
C
CGG
CGG
13 a0001c0001t0001g0134
a0001c0001t0002g0045
a0001c0001t0002g0046
others(10): Show 
a0001c0001t0001g0134
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0003g0202
a0001c0002t0003g0222
a0001c0002t0005g0033
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0043
a0002c0003t0002g0047
a0002c0003t0002g0048
16 HG01074.hp2
HG01169.hp2
HG01257.hp2
others(13): Show 
HG01074.hp2
HG01169.hp2
HG01257.hp2
HG01361.hp2
HG01516.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG03098.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp2
NA19010.hp2
intron_variant MODIFIER c.676-90_676-89dupGG
c.676-90_676-89dupGG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 INFO_REALIGN_3_PRIME chr1 6440530
chr1:6440538 C
C
G
G
1 a0001c0002t0003g0186
a0001c0002t0003g0186
1 NA18955.hp2
NA18955.hp2
intron_variant MODIFIER c.676-88C>G
c.676-88C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440538
chr1:6440538 C
C
T
T
5 a0001c0002t0003g0025
a0001c0002t0003g0192
a0001c0002t0003g0205
others(2): Show 
a0001c0002t0003g0025
a0001c0002t0003g0192
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
6 HG01109.hp2
HG02451.hp2
HG02723.hp2
others(3): Show 
HG01109.hp2
HG02451.hp2
HG02723.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp2
intron_variant MODIFIER c.676-88C>T
c.676-88C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440538
chr1:6440548 C
C
G
G
225 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(222): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
275 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(272): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.676-78C>G
c.676-78C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440548
chr1:6440550 A
A
C
C
225 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(222): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
275 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(272): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.676-76A>C
c.676-76A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440550
chr1:6440551 C
C
A
A
225 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(222): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
275 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(272): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.676-75C>A
c.676-75C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440551
chr1:6440555 G
G
T
T
11 a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
others(8): Show 
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
12 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(9): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.676-71G>T
c.676-71G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440555
chr1:6440566 C
C
CG
CG
213 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(210): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
262 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(259): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.676-57dupG
c.676-57dupG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 INFO_REALIGN_3_PRIME chr1 6440566
chr1:6440566 C
C
G
G
1 a0001c0002t0003g0186
a0001c0002t0003g0186
1 NA18955.hp2
NA18955.hp2
intron_variant MODIFIER c.676-60C>G
c.676-60C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440566
chr1:6440567 G
G
GT
GT
11 a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
others(8): Show 
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
12 HG02109.hp1
HG02145.hp1
HG02258.hp2
others(9): Show 
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG03225.hp2
HG06807.hp2
NA20129.hp1
intron_variant MODIFIER c.676-59_676-58insT
c.676-59_676-58insT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440567
chr1:6440580 C
C
T
T
1 a0001c0002t0014g0184
a0001c0002t0014g0184
1 HG02293.hp2
HG02293.hp2
intron_variant MODIFIER c.676-46C>T
c.676-46C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440580
chr1:6440600 C
C
A
A
21 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(18): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0024t0002g0057
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
21 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01891.hp2
HG02895.hp2
HG02922.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG04228.hp1
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
intron_variant MODIFIER c.676-26C>A
c.676-26C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 3/12 chr1 6440600
chr1:6440859 T
T
C
C
107 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(104): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
123 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(120): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.858+51T>C
c.858+51T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 4/12 chr1 6440859
chr1:6441092 C
C
T
T
2 a0001c0001t0001g0133
a0001c0001t0001g0152
a0001c0001t0001g0133
a0001c0001t0001g0152
2 HG01257.hp1
HG01934.hp1
HG01257.hp1
HG01934.hp1
intron_variant MODIFIER c.990+27C>T
c.990+27C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441092
chr1:6441131 C
C
T
T
5 a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
others(2): Show 
a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0008t0002g0006
6 HG02559.hp2
HG02970.hp2
HG03098.hp1
others(3): Show 
HG02559.hp2
HG02970.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
NA18522.hp1
intron_variant MODIFIER c.990+66C>T
c.990+66C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441131
chr1:6441255 G
G
A
A
4 a0001c0001t0002g0046
a0002c0003t0002g0043
a0002c0003t0002g0048
others(1): Show 
a0001c0001t0002g0046
a0002c0003t0002g0043
a0002c0003t0002g0048
a0002c0003t0002g0054
4 HG01361.hp2
HG02735.hp1
HG03516.hp2
others(1): Show 
HG01361.hp2
HG02735.hp1
HG03516.hp2
NA18522.hp2
intron_variant MODIFIER c.990+190G>A
c.990+190G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441255
chr1:6441285 C
C
G
G
5 a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
others(2): Show 
a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0008t0002g0006
6 HG02559.hp2
HG02970.hp2
HG03098.hp1
others(3): Show 
HG02559.hp2
HG02970.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
NA18522.hp1
intron_variant MODIFIER c.990+220C>G
c.990+220C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441285
chr1:6441354 A
A
G
G
2 a0007c0013t0006g0208
a0007c0013t0006g0209
a0007c0013t0006g0208
a0007c0013t0006g0209
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.990+289A>G
c.990+289A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441354
chr1:6441408 A
A
C
C
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.990+343A>C
c.990+343A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441408
chr1:6441414 C
C
A
A
5 a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0182
others(2): Show 
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0182
a0007c0013t0006g0208
a0007c0013t0006g0209
5 HG02895.hp2
HG02896.hp1
HG02897.hp1
others(2): Show 
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02970.hp1
HG03225.hp1
intron_variant MODIFIER c.990+349C>A
c.990+349C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441414
chr1:6441472 C
C
G
G
45 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(42): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0004t0002g0059
a0002c0004t0002g0069
a0003c0006t0002g0029
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
49 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(46): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02055.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.990+407C>G
c.990+407C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441472
chr1:6441511 A
A
C
C
5 a0003c0006t0002g0029
a0003c0006t0002g0176
a0007c0013t0006g0208
others(2): Show 
a0003c0006t0002g0029
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
5 HG02145.hp1
HG02622.hp2
HG02896.hp1
others(2): Show 
HG02145.hp1
HG02622.hp2
HG02896.hp1
HG02897.hp1
NA20129.hp1
intron_variant MODIFIER c.990+446A>C
c.990+446A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441511
chr1:6441685 G
G
T
T
4 a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
others(1): Show 
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
4 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(1): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03579.hp1
intron_variant MODIFIER c.990+620G>T
c.990+620G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441685
chr1:6441710 G
G
A
A
3 a0003c0006t0002g0029
a0003c0006t0002g0176
a0013c0028t0002g0175
a0003c0006t0002g0029
a0003c0006t0002g0176
a0013c0028t0002g0175
3 HG02145.hp1
HG02622.hp2
NA20129.hp1
HG02145.hp1
HG02622.hp2
NA20129.hp1
intron_variant MODIFIER c.990+645G>A
c.990+645G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441710
chr1:6441736 T
T
C
C
104 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
others(101): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
120 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(117): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.990+671T>C
c.990+671T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441736
chr1:6441753 C
C
T
T
3 a0001c0002t0002g0063
a0001c0002t0002g0065
a0011c0015t0002g0064
a0001c0002t0002g0063
a0001c0002t0002g0065
a0011c0015t0002g0064
3 HG01192.hp1
HG01346.hp1
HG01516.hp2
HG01192.hp1
HG01346.hp1
HG01516.hp2
intron_variant MODIFIER c.990+688C>T
c.990+688C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441753
chr1:6441806 G
G
A
A
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.990+741G>A
c.990+741G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441806
chr1:6441858 C
C
T
T
1 a0001c0001t0001g0164
a0001c0001t0001g0164
1 NA18946.hp2
NA18946.hp2
intron_variant MODIFIER c.990+793C>T
c.990+793C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441858
chr1:6441859 T
T
C
C
1 a0001c0001t0001g0164
a0001c0001t0001g0164
1 NA18946.hp2
NA18946.hp2
intron_variant MODIFIER c.990+794T>C
c.990+794T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441859
chr1:6441859 TC
TC
T
T
94 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(91): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0019c0026t0003g0203
a0021c0014t0003g0198
110 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(107): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.990+803delC
c.990+803delC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6441859
chr1:6441963 C
C
T
T
4 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
others(1): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
a0002c0003t0002g0066
4 HG02976.hp2
HG03139.hp2
NA18906.hp2
others(1): Show 
HG02976.hp2
HG03139.hp2
NA18906.hp2
NA21309.hp2
intron_variant MODIFIER c.990+898C>T
c.990+898C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441963
chr1:6441965 C
C
T
T
2 a0010c0011t0003g0210
a0010c0011t0003g0211
a0010c0011t0003g0210
a0010c0011t0003g0211
2 HG01891.hp2
NA19030.hp2
HG01891.hp2
NA19030.hp2
intron_variant MODIFIER c.990+900C>T
c.990+900C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441965
chr1:6441976 C
C
A
A
1 a0001c0002t0003g0204
a0001c0002t0003g0204
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.990+911C>A
c.990+911C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6441976
chr1:6442030 T
T
C
C
4 a0001c0001t0001g0114
a0001c0001t0001g0160
a0007c0013t0006g0208
others(1): Show 
a0001c0001t0001g0114
a0001c0001t0001g0160
a0007c0013t0006g0208
a0007c0013t0006g0209
4 HG02083.hp2
HG02132.hp1
HG02896.hp1
others(1): Show 
HG02083.hp2
HG02132.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.990+965T>C
c.990+965T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442030
chr1:6442047 T
T
C
C
36 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(33): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0003g0219
a0002c0025t0001g0159
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
39 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(36): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.990+982T>C
c.990+982T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442047
chr1:6442072 G
G
A
A
3 a0001c0001t0001g0135
a0001c0001t0003g0026
a0001c0002t0002g0055
a0001c0001t0001g0135
a0001c0001t0003g0026
a0001c0002t0002g0055
4 HG02109.hp2
HG02896.hp2
HG02976.hp1
others(1): Show 
HG02109.hp2
HG02896.hp2
HG02976.hp1
NA19240.hp2
intron_variant MODIFIER c.990+1007G>A
c.990+1007G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442072
chr1:6442177 G
G
A
A
1 a0002c0004t0009g0177
a0002c0004t0009g0177
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.990+1112G>A
c.990+1112G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442177
chr1:6442275 T
T
C
C
1 a0012c0029t0008g0174
a0012c0029t0008g0174
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.990+1210T>C
c.990+1210T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442275
chr1:6442292 C
C
T
T
7 a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
others(4): Show 
a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
7 HG02145.hp1
HG02280.hp1
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp1
NA20129.hp1
intron_variant MODIFIER c.990+1227C>T
c.990+1227C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442292
chr1:6442312 T
T
C
C
1 a0002c0004t0009g0177
a0002c0004t0009g0177
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.990+1247T>C
c.990+1247T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442312
chr1:6442398 A
A
G
G
7 a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
others(4): Show 
a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
7 HG02145.hp1
HG02280.hp1
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp1
NA20129.hp1
intron_variant MODIFIER c.990+1333A>G
c.990+1333A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442398
chr1:6442403 T
T
A
A
5 a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
others(2): Show 
a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
5 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(2): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03579.hp1
intron_variant MODIFIER c.990+1338T>A
c.990+1338T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442403
chr1:6442418 A
A
G
G
1 a0001c0001t0001g0132
a0001c0001t0001g0132
1 HG01928.hp2
HG01928.hp2
intron_variant MODIFIER c.990+1353A>G
c.990+1353A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442418
chr1:6442488 C
C
T
T
40 a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
others(37): Show 
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
48 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(45): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.990+1423C>T
c.990+1423C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442488
chr1:6442489 G
G
A
A
1 a0001c0001t0001g0090
a0001c0001t0001g0090
1 NA18973.hp2
NA18973.hp2
intron_variant MODIFIER c.990+1424G>A
c.990+1424G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442489
chr1:6442571 T
T
TA
TA
6 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(3): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0009g0177
a0005c0007t0002g0014
a0005c0007t0002g0039
11 HG01884.hp1
HG02055.hp1
HG02055.hp2
others(8): Show 
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02717.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03209.hp1
HG03453.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.990+1522dupA
c.990+1522dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6442571
chr1:6442571 T
T
TAA
TAA
7 a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
others(4): Show 
a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
7 HG02145.hp1
HG02280.hp1
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp1
NA20129.hp1
intron_variant MODIFIER c.990+1521_990+1522d
others(4): Show 
c.990+1521_990+1522dupAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6442571
chr1:6442750 C
C
T
T
2 a0001c0001t0001g0098
a0001c0001t0001g0100
a0001c0001t0001g0098
a0001c0001t0001g0100
2 HG02071.hp1
HG02165.hp1
HG02071.hp1
HG02165.hp1
intron_variant MODIFIER c.990+1685C>T
c.990+1685C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442750
chr1:6442758 CT
CT
C
C
37 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(34): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0003g0219
a0002c0025t0001g0159
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
40 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(37): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.990+1695delT
c.990+1695delT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6442758
chr1:6442792 C
C
T
T
7 a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
others(4): Show 
a0003c0006t0002g0029
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0013c0028t0002g0175
7 HG02145.hp1
HG02280.hp1
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02280.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp1
NA20129.hp1
intron_variant MODIFIER c.991-1689C>T
c.991-1689C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442792
chr1:6442816 C
C
T
T
1 a0001c0001t0001g0088
a0001c0001t0001g0088
1 NA18612.hp1
NA18612.hp1
intron_variant MODIFIER c.991-1665C>T
c.991-1665C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442816
chr1:6442848 A
A
G
G
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.991-1633A>G
c.991-1633A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442848
chr1:6442859 C
C
T
T
5 a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
others(2): Show 
a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
5 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(2): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03579.hp1
intron_variant MODIFIER c.991-1622C>T
c.991-1622C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442859
chr1:6442867 C
C
CA
CA
20 a0001c0001t0001g0089
a0001c0001t0001g0102
a0001c0001t0001g0104
others(17): Show 
a0001c0001t0001g0089
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0115
a0001c0001t0001g0136
a0001c0001t0001g0146
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0002t0003g0189
a0001c0002t0005g0033
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0017c0018t0001g0112
24 HG01192.hp2
HG01243.hp1
HG01243.hp2
others(21): Show 
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG02055.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02897.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03669.hp2
NA18949.hp2
NA18961.hp1
NA18962.hp2
NA18985.hp2
NA18994.hp2
NA19030.hp1
intron_variant MODIFIER c.991-1593dupA
c.991-1593dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6442867
chr1:6442867 CA
CA
C
C
47 a0001c0001t0001g0072
a0001c0001t0001g0143
a0001c0001t0001g0150
others(44): Show 
a0001c0001t0001g0072
a0001c0001t0001g0143
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0194
a0001c0002t0003g0221
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0025t0001g0159
a0003c0006t0002g0172
a0004c0005t0003g0183
a0010c0011t0003g0210
a0010c0011t0003g0211
50 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(47): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp1
HG01361.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01993.hp1
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02559.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18961.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.991-1593delA
c.991-1593delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6442867
chr1:6442908 G
G
A
A
1 a0001c0001t0002g0045
a0001c0001t0002g0045
1 HG03669.hp1
HG03669.hp1
intron_variant MODIFIER c.991-1573G>A
c.991-1573G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442908
chr1:6442967 T
T
C
C
4 a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
others(1): Show 
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
8 HG01884.hp1
HG02055.hp1
HG02895.hp1
others(5): Show 
HG01884.hp1
HG02055.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03453.hp1
NA20300.hp2
intron_variant MODIFIER c.991-1514T>C
c.991-1514T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6442967
chr1:6443037 T
T
C
C
1 a0001c0001t0002g0045
a0001c0001t0002g0045
1 HG03669.hp1
HG03669.hp1
intron_variant MODIFIER c.991-1444T>C
c.991-1444T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443037
chr1:6443171 T
T
TA
TA
84 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(81): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0021c0014t0003g0198
95 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(92): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.991-1293dupA
c.991-1293dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6443171
chr1:6443171 TA
TA
T
T
9 a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0110
others(6): Show 
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0142
a0001c0001t0001g0164
a0002c0004t0002g0179
a0015c0017t0002g0032
a0016c0019t0001g0093
9 HG01346.hp2
HG01516.hp1
HG02056.hp1
others(6): Show 
HG01346.hp2
HG01516.hp1
HG02056.hp1
HG02165.hp1
HG02895.hp1
HG02965.hp2
HG03834.hp1
NA18946.hp2
NA18962.hp2
intron_variant MODIFIER c.991-1293delA
c.991-1293delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6443171
chr1:6443345 C
C
G
G
3 a0002c0003t0002g0013
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0013
a0002c0003t0002g0030
a0002c0003t0002g0031
4 HG02615.hp1
HG03041.hp2
HG03540.hp1
others(1): Show 
HG02615.hp1
HG03041.hp2
HG03540.hp1
NA19043.hp1
intron_variant MODIFIER c.991-1136C>G
c.991-1136C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443345
chr1:6443389 C
C
T
T
1 a0001c0001t0002g0079
a0001c0001t0002g0079
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.991-1092C>T
c.991-1092C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443389
chr1:6443564 A
A
G
G
96 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(93): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0021c0014t0003g0198
108 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(105): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.991-917A>G
c.991-917A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443564
chr1:6443606 C
C
T
T
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.991-875C>T
c.991-875C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443606
chr1:6443699 G
G
A
A
3 a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
3 HG02040.hp2
HG02135.hp1
NA19057.hp1
HG02040.hp2
HG02135.hp1
NA19057.hp1
intron_variant MODIFIER c.991-782G>A
c.991-782G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443699
chr1:6443851 A
A
G
G
10 a0001c0001t0002g0045
a0002c0003t0001g0124
a0002c0003t0002g0005
others(7): Show 
a0001c0001t0002g0045
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0044
a0002c0004t0002g0052
a0002c0004t0003g0219
a0002c0025t0001g0159
13 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(10): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01517.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02717.hp1
HG03209.hp2
HG03669.hp1
HG03831.hp1
NA19060.hp2
intron_variant MODIFIER c.991-630A>G
c.991-630A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443851
chr1:6443862 GC
GC
G
G
3 a0001c0001t0001g0164
a0005c0007t0002g0014
a0005c0007t0002g0039
a0001c0001t0001g0164
a0005c0007t0002g0014
a0005c0007t0002g0039
4 HG02055.hp2
HG02717.hp2
HG03209.hp1
others(1): Show 
HG02055.hp2
HG02717.hp2
HG03209.hp1
NA18946.hp2
intron_variant MODIFIER c.991-614delC
c.991-614delC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 INFO_REALIGN_3_PRIME chr1 6443862
chr1:6443972 A
A
T
T
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.991-509A>T
c.991-509A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6443972
chr1:6444083 C
C
T
T
2 a0001c0027t0001g0147
a0001c0031t0001g0094
a0001c0027t0001g0147
a0001c0031t0001g0094
2 HG00438.hp1
NA18994.hp2
HG00438.hp1
NA18994.hp2
intron_variant MODIFIER c.991-398C>T
c.991-398C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6444083
chr1:6444125 G
G
C
C
94 a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
others(91): Show 
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0013c0028t0002g0175
a0019c0026t0003g0203
a0021c0014t0003g0198
105 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(102): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.991-356G>C
c.991-356G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6444125
chr1:6444336 G
G
A
A
1 a0001c0001t0001g0090
a0001c0001t0001g0090
1 NA18973.hp2
NA18973.hp2
intron_variant MODIFIER c.991-145G>A
c.991-145G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6444336
chr1:6444390 C
C
T
T
1 a0002c0003t0002g0028
a0002c0003t0002g0028
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.991-91C>T
c.991-91C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6444390
chr1:6444422 T
T
C
C
2 a0006c0012t0002g0081
a0006c0012t0002g0084
a0006c0012t0002g0081
a0006c0012t0002g0084
2 HG02280.hp1
HG02723.hp1
HG02280.hp1
HG02723.hp1
intron_variant MODIFIER c.991-59T>C
c.991-59T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 5/12 chr1 6444422
chr1:6444763 G
G
A
A
49 a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
others(46): Show 
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0012g0049
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0008c0022t0013g0034
a0008c0023t0005g0035
a0019c0026t0003g0203
a0021c0014t0003g0198
57 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(54): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01891.hp1
HG01993.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.1192+81G>A
c.1192+81G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6444763
chr1:6444826 A
A
G
G
1 a0001c0002t0003g0207
a0001c0002t0003g0207
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.1192+144A>G
c.1192+144A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6444826
chr1:6445001 A
A
G
G
1 a0001c0001t0001g0160
a0001c0001t0001g0160
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.1192+319A>G
c.1192+319A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445001
chr1:6445054 ACAAG
ACAAG
A
A
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.1192+379_1192+382d
others(6): Show 
c.1192+379_1192+382delAGCA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 INFO_REALIGN_3_PRIME chr1 6445054
chr1:6445079 T
T
C
C
1 a0001c0001t0003g0026
a0001c0001t0003g0026
2 HG02976.hp1
NA19240.hp2
HG02976.hp1
NA19240.hp2
intron_variant MODIFIER c.1192+397T>C
c.1192+397T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445079
chr1:6445099 G
G
A
A
36 a0001c0001t0001g0116
a0001c0001t0002g0045
a0001c0001t0002g0046
others(33): Show 
a0001c0001t0001g0116
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0219
a0002c0025t0001g0159
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
39 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(36): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18522.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp2
intron_variant MODIFIER c.1192+417G>A
c.1192+417G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445099
chr1:6445112 C
C
T
T
1 a0002c0003t0001g0107
a0002c0003t0001g0107
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.1192+430C>T
c.1192+430C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445112
chr1:6445114 TAC
TAC
T
T
43 a0001c0001t0001g0116
a0001c0001t0002g0045
a0001c0001t0002g0046
others(40): Show 
a0001c0001t0001g0116
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0186
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0202
a0002c0003t0001g0124
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0003g0219
a0002c0025t0001g0159
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
51 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(48): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02074.hp2
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02922.hp2
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18946.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18975.hp2
NA18990.hp1
NA18994.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp2
NA19060.hp2
NA21309.hp2
intron_variant MODIFIER c.1192+437_1192+438d
others(4): Show 
c.1192+437_1192+438delAC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 INFO_REALIGN_3_PRIME chr1 6445114
chr1:6445116 C
C
T
T
41 a0001c0002t0003g0025
a0001c0002t0003g0189
a0001c0002t0003g0190
others(38): Show 
a0001c0002t0003g0025
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0009g0177
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0008c0023t0005g0035
a0019c0026t0003g0203
a0021c0014t0003g0198
44 HG01109.hp2
HG01167.hp2
HG01169.hp2
others(41): Show 
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18961.hp2
NA18969.hp2
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.1192+434C>T
c.1192+434C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445116
chr1:6445173 C
C
A
A
2 a0007c0013t0006g0208
a0007c0013t0006g0209
a0007c0013t0006g0208
a0007c0013t0006g0209
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.1192+491C>A
c.1192+491C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445173
chr1:6445611 G
G
A
A
42 a0001c0001t0001g0099
a0001c0002t0002g0058
a0001c0002t0003g0004
others(39): Show 
a0001c0001t0001g0099
a0001c0002t0002g0058
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0014g0184
a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0019c0026t0003g0203
a0021c0014t0003g0198
50 HG00423.hp2
HG01109.hp2
HG01167.hp2
others(47): Show 
HG00423.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19066.hp2
NA20905.hp2
intron_variant MODIFIER c.1193-53G>A
c.1193-53G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445611
chr1:6445623 C
C
G
G
2 a0008c0022t0013g0034
a0008c0023t0005g0035
a0008c0022t0013g0034
a0008c0023t0005g0035
2 HG01891.hp1
NA19030.hp1
HG01891.hp1
NA19030.hp1
intron_variant MODIFIER c.1193-41C>G
c.1193-41C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445623
chr1:6445661 C
C
T
T
1 a0001c0002t0003g0207
a0001c0002t0003g0207
1 HG01109.hp2
HG01109.hp2
splice_region_variant&intron_variant LOW c.1193-3C>T
c.1193-3C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 6/12 chr1 6445661
chr1:6445949 AC
AC
A
A
5 a0002c0003t0002g0037
a0002c0003t0002g0047
a0002c0004t0002g0024
others(2): Show 
a0002c0003t0002g0037
a0002c0003t0002g0047
a0002c0004t0002g0024
a0010c0011t0003g0210
a0010c0011t0003g0211
6 HG01884.hp1
HG01891.hp2
HG02630.hp2
others(3): Show 
HG01884.hp1
HG01891.hp2
HG02630.hp2
NA18906.hp2
NA19030.hp2
NA20300.hp2
intron_variant MODIFIER c.1464+19delC
c.1464+19delC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 INFO_REALIGN_3_PRIME chr1 6445949
chr1:6445951 C
C
A
A
5 a0002c0003t0002g0037
a0002c0003t0002g0047
a0002c0004t0002g0024
others(2): Show 
a0002c0003t0002g0037
a0002c0003t0002g0047
a0002c0004t0002g0024
a0010c0011t0003g0210
a0010c0011t0003g0211
6 HG01884.hp1
HG01891.hp2
HG02630.hp2
others(3): Show 
HG01884.hp1
HG01891.hp2
HG02630.hp2
NA18906.hp2
NA19030.hp2
NA20300.hp2
intron_variant MODIFIER c.1464+16C>A
c.1464+16C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6445951
chr1:6445992 C
C
A
A
1 a0002c0003t0002g0066
a0002c0003t0002g0066
1 NA21309.hp2
NA21309.hp2
intron_variant MODIFIER c.1464+57C>A
c.1464+57C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6445992
chr1:6446100 G
G
T
T
3 a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
3 HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02145.hp1
HG02280.hp1
HG02723.hp1
intron_variant MODIFIER c.1464+165G>T
c.1464+165G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446100
chr1:6446184 C
C
T
T
3 a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
3 HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02145.hp1
HG02280.hp1
HG02723.hp1
intron_variant MODIFIER c.1464+249C>T
c.1464+249C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446184
chr1:6446243 T
T
C
C
1 a0002c0003t0002g0028
a0002c0003t0002g0028
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.1464+308T>C
c.1464+308T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446243
chr1:6446324 G
G
A
A
5 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
others(2): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0037
a0002c0003t0002g0047
a0002c0003t0002g0066
5 HG02630.hp2
HG02976.hp2
HG03139.hp2
others(2): Show 
HG02630.hp2
HG02976.hp2
HG03139.hp2
NA18906.hp2
NA21309.hp2
intron_variant MODIFIER c.1464+389G>A
c.1464+389G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446324
chr1:6446445 G
G
A
A
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.1464+510G>A
c.1464+510G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446445
chr1:6446511 C
C
T
T
1 a0001c0001t0001g0136
a0001c0001t0001g0136
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.1464+576C>T
c.1464+576C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446511
chr1:6446522 C
C
T
T
6 a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
others(3): Show 
a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0008t0002g0006
a0003c0006t0002g0029
7 HG02559.hp2
HG02622.hp2
HG02970.hp2
others(4): Show 
HG02559.hp2
HG02622.hp2
HG02970.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
NA18522.hp1
intron_variant MODIFIER c.1464+587C>T
c.1464+587C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446522
chr1:6446551 G
G
T
T
3 a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
3 HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02145.hp1
HG02280.hp1
HG02723.hp1
intron_variant MODIFIER c.1464+616G>T
c.1464+616G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446551
chr1:6446655 C
C
T
T
1 a0018c0021t0003g0212
a0018c0021t0003g0212
1 HG03492.hp1
HG03492.hp1
intron_variant MODIFIER c.1464+720C>T
c.1464+720C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446655
chr1:6446656 G
G
A
A
2 a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0087
a0001c0001t0001g0089
2 HG02683.hp1
NA19002.hp1
HG02683.hp1
NA19002.hp1
intron_variant MODIFIER c.1464+721G>A
c.1464+721G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446656
chr1:6446682 G
G
A
A
1 a0001c0002t0003g0207
a0001c0002t0003g0207
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.1464+747G>A
c.1464+747G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446682
chr1:6446683 A
A
T
T
1 a0001c0002t0003g0207
a0001c0002t0003g0207
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.1464+748A>T
c.1464+748A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446683
chr1:6446802 G
G
C
C
4 a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
others(1): Show 
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
4 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(1): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03579.hp1
intron_variant MODIFIER c.1464+867G>C
c.1464+867G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446802
chr1:6446883 G
G
C
C
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1464+948G>C
c.1464+948G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446883
chr1:6446959 A
A
G
G
15 a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
others(12): Show 
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0009g0177
a0002c0004t0012g0049
a0007c0013t0006g0208
a0007c0013t0006g0209
a0009c0010t0001g0022
a0012c0029t0008g0174
18 HG01243.hp1
HG02451.hp1
HG02572.hp1
others(15): Show 
HG01243.hp1
HG02451.hp1
HG02572.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02970.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03579.hp1
NA19043.hp2
NA20300.hp1
intron_variant MODIFIER c.1464+1024A>G
c.1464+1024A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6446959
chr1:6447029 G
G
A
A
3 a0001c0001t0002g0079
a0001c0001t0003g0026
a0001c0002t0002g0055
a0001c0001t0002g0079
a0001c0001t0003g0026
a0001c0002t0002g0055
4 HG02109.hp2
HG02976.hp1
HG06807.hp1
others(1): Show 
HG02109.hp2
HG02976.hp1
HG06807.hp1
NA19240.hp2
intron_variant MODIFIER c.1464+1094G>A
c.1464+1094G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447029
chr1:6447121 C
C
T
T
1 a0001c0009t0002g0038
a0001c0009t0002g0038
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.1464+1186C>T
c.1464+1186C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447121
chr1:6447128 TGGCTGTG
others(32): Show 
TGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCG
T
T
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.1464+1203_1464+124
others(43): Show 
c.1464+1203_1464+1241delAGCCCCCTCCCGGCTGTGTGCGTCCC
TCCGGGCTGTGTG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 INFO_REALIGN_3_PRIME chr1 6447128
chr1:6447165 C
C
G
G
34 a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
others(31): Show 
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0003g0219
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0029
a0015c0017t0002g0032
43 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(40): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp1
HG02055.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19060.hp2
NA20300.hp2
NA21309.hp1
intron_variant MODIFIER c.1464+1230C>G
c.1464+1230C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447165
chr1:6447167 G
G
C
C
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1464+1232G>C
c.1464+1232G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447167
chr1:6447178 G
G
T
T
1 a0019c0026t0003g0203
a0019c0026t0003g0203
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.1464+1243G>T
c.1464+1243G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447178
chr1:6447188 GCTGTGTG
others(12): Show 
GCTGTGTGCGCCCCTCCCCA
G
G
1 a0003c0006t0002g0023
a0003c0006t0002g0023
2 HG02109.hp1
HG03225.hp2
HG02109.hp1
HG03225.hp2
intron_variant MODIFIER c.1464+1271_1464+128
others(23): Show 
c.1464+1271_1464+1289delCACTGTGTGCGCCCCTCCC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 INFO_REALIGN_3_PRIME chr1 6447188
chr1:6447189 C
C
T
T
6 a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
others(3): Show 
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
7 HG01255.hp1
HG01433.hp2
HG01993.hp2
others(4): Show 
HG01255.hp1
HG01433.hp2
HG01993.hp2
HG02083.hp1
NA18949.hp1
NA18961.hp2
NA19009.hp1
intron_variant MODIFIER c.1464+1254C>T
c.1464+1254C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447189
chr1:6447283 C
C
A
A
5 a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
others(2): Show 
a0001c0024t0002g0057
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
5 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(2): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03453.hp2
HG03579.hp1
intron_variant MODIFIER c.1464+1348C>A
c.1464+1348C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447283
chr1:6447372 G
G
A
A
1 a0001c0001t0001g0089
a0001c0001t0001g0089
1 HG02683.hp1
HG02683.hp1
intron_variant MODIFIER c.1465-1269G>A
c.1465-1269G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447372
chr1:6447412 C
C
G
G
1 a0001c0001t0001g0120
a0001c0001t0001g0120
1 HG03492.hp2
HG03492.hp2
intron_variant MODIFIER c.1465-1229C>G
c.1465-1229C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447412
chr1:6447451 G
G
A
A
5 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(2): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0009c0010t0001g0022
8 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(5): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.1465-1190G>A
c.1465-1190G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447451
chr1:6447722 G
G
A
A
1 a0001c0001t0001g0087
a0001c0001t0001g0087
1 NA19002.hp1
NA19002.hp1
intron_variant MODIFIER c.1465-919G>A
c.1465-919G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447722
chr1:6447740 G
G
A
A
67 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(64): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
80 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(77): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1465-901G>A
c.1465-901G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447740
chr1:6447876 G
G
C
C
17 a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
others(14): Show 
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0073
a0002c0003t0011g0040
a0002c0004t0002g0052
a0002c0004t0003g0219
a0002c0016t0001g0125
a0002c0025t0001g0159
20 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(17): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp1
HG03209.hp2
HG03516.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp2
NA19060.hp2
intron_variant MODIFIER c.1465-765G>C
c.1465-765G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447876
chr1:6447940 C
C
T
T
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.1465-701C>T
c.1465-701C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6447940
chr1:6448018 G
G
C
C
5 a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
others(2): Show 
a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
6 HG02109.hp1
HG02258.hp2
HG02559.hp1
others(3): Show 
HG02109.hp1
HG02258.hp2
HG02559.hp1
HG02809.hp1
HG03225.hp2
HG06807.hp2
intron_variant MODIFIER c.1465-623G>C
c.1465-623G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448018
chr1:6448062 G
G
C
C
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1465-579G>C
c.1465-579G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448062
chr1:6448111 G
G
C
C
1 a0001c0001t0001g0161
a0001c0001t0001g0161
1 HG00733.hp1
HG00733.hp1
intron_variant MODIFIER c.1465-530G>C
c.1465-530G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448111
chr1:6448207 C
C
G
G
62 a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
others(59): Show 
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0007c0013t0006g0208
a0007c0013t0006g0209
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0015c0017t0002g0032
75 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(72): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1465-434C>G
c.1465-434C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448207
chr1:6448503 G
G
A
A
1 a0002c0004t0009g0177
a0002c0004t0009g0177
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1465-138G>A
c.1465-138G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448503
chr1:6448535 C
C
T
T
2 a0001c0001t0001g0116
a0001c0001t0002g0045
a0001c0001t0001g0116
a0001c0001t0002g0045
2 HG02602.hp1
HG03669.hp1
HG02602.hp1
HG03669.hp1
intron_variant MODIFIER c.1465-106C>T
c.1465-106C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448535
chr1:6448565 A
A
G
G
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1465-76A>G
c.1465-76A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448565
chr1:6448573 G
G
T
T
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1465-68G>T
c.1465-68G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448573
chr1:6448586 G
G
T
T
1 a0001c0002t0005g0033
a0001c0002t0005g0033
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.1465-55G>T
c.1465-55G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448586
chr1:6448606 G
G
T
T
2 a0001c0001t0001g0101
a0001c0001t0002g0046
a0001c0001t0001g0101
a0001c0001t0002g0046
2 HG01361.hp2
HG02572.hp2
HG01361.hp2
HG02572.hp2
intron_variant MODIFIER c.1465-35G>T
c.1465-35G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 7/12 chr1 6448606
chr1:6449411 C
C
G
G
17 a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
others(14): Show 
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0008t0002g0006
a0003c0006t0002g0029
a0015c0017t0002g0032
23 HG01884.hp1
HG02055.hp1
HG02559.hp2
others(20): Show 
HG01884.hp1
HG02055.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp2
NA21309.hp1
intron_variant MODIFIER c.1915+320C>G
c.1915+320C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449411
chr1:6449498 T
T
C
C
68 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(65): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1915+407T>C
c.1915+407T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449498
chr1:6449534 G
G
C
C
6 a0002c0003t0002g0047
a0002c0003t0002g0066
a0002c0004t0002g0059
others(3): Show 
a0002c0003t0002g0047
a0002c0003t0002g0066
a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
a0010c0011t0003g0211
6 HG01891.hp2
HG02630.hp2
HG02922.hp2
others(3): Show 
HG01891.hp2
HG02630.hp2
HG02922.hp2
HG03471.hp2
NA19030.hp2
NA21309.hp2
intron_variant MODIFIER c.1915+443G>C
c.1915+443G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449534
chr1:6449607 T
T
C
C
72 a0001c0001t0001g0135
a0001c0001t0002g0045
a0001c0009t0002g0036
others(69): Show 
a0001c0001t0001g0135
a0001c0001t0002g0045
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
86 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(83): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1915+516T>C
c.1915+516T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449607
chr1:6449672 C
C
T
T
1 a0001c0002t0003g0201
a0001c0002t0003g0201
1 NA18950.hp1
NA18950.hp1
intron_variant MODIFIER c.1915+581C>T
c.1915+581C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449672
chr1:6449703 G
G
A
A
1 a0001c0001t0001g0166
a0001c0001t0001g0166
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.1915+612G>A
c.1915+612G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449703
chr1:6449735 A
A
T
T
1 a0001c0001t0002g0079
a0001c0001t0002g0079
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.1915+644A>T
c.1915+644A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449735
chr1:6449968 G
G
A
A
1 a0001c0002t0003g0204
a0001c0002t0003g0204
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.1915+877G>A
c.1915+877G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449968
chr1:6449981 C
C
T
T
1 a0001c0001t0001g0109
a0001c0001t0001g0109
1 HG01261.hp2
HG01261.hp2
intron_variant MODIFIER c.1915+890C>T
c.1915+890C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6449981
chr1:6450128 T
T
C
C
5 a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
others(2): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0023t0005g0035
6 HG02055.hp2
HG02717.hp2
HG02896.hp2
others(3): Show 
HG02055.hp2
HG02717.hp2
HG02896.hp2
HG03098.hp2
HG03209.hp1
NA19030.hp1
intron_variant MODIFIER c.1915+1037T>C
c.1915+1037T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450128
chr1:6450206 G
G
T
T
1 a0001c0002t0005g0033
a0001c0002t0005g0033
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.1915+1115G>T
c.1915+1115G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450206
chr1:6450338 C
C
T
T
5 a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
others(2): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0023t0005g0035
6 HG02055.hp2
HG02717.hp2
HG02896.hp2
others(3): Show 
HG02055.hp2
HG02717.hp2
HG02896.hp2
HG03098.hp2
HG03209.hp1
NA19030.hp1
intron_variant MODIFIER c.1915+1247C>T
c.1915+1247C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450338
chr1:6450345 C
C
T
T
2 a0001c0002t0005g0033
a0008c0023t0005g0035
a0001c0002t0005g0033
a0008c0023t0005g0035
2 HG03098.hp2
NA19030.hp1
HG03098.hp2
NA19030.hp1
intron_variant MODIFIER c.1915+1254C>T
c.1915+1254C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450345
chr1:6450394 C
C
G
G
5 a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
others(2): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0023t0005g0035
6 HG02055.hp2
HG02717.hp2
HG02896.hp2
others(3): Show 
HG02055.hp2
HG02717.hp2
HG02896.hp2
HG03098.hp2
HG03209.hp1
NA19030.hp1
intron_variant MODIFIER c.1916-1209C>G
c.1916-1209C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450394
chr1:6450398 C
C
G
G
6 a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0002t0003g0189
7 HG02040.hp2
HG02135.hp1
NA18955.hp1
others(4): Show 
HG02040.hp2
HG02135.hp1
NA18955.hp1
NA18985.hp2
NA18990.hp2
NA19010.hp1
NA19057.hp1
intron_variant MODIFIER c.1916-1205C>G
c.1916-1205C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450398
chr1:6450400 C
C
G
G
1 a0001c0001t0001g0140
a0001c0001t0001g0140
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.1916-1203C>G
c.1916-1203C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450400
chr1:6450433 T
T
C
C
2 a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0110
a0001c0001t0001g0121
2 HG02735.hp2
HG03834.hp1
HG02735.hp2
HG03834.hp1
intron_variant MODIFIER c.1916-1170T>C
c.1916-1170T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450433
chr1:6450512 C
C
T
T
11 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(8): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0011c0015t0002g0064
11 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(8): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
HG04228.hp1
NA18946.hp1
NA18962.hp1
NA19012.hp2
intron_variant MODIFIER c.1916-1091C>T
c.1916-1091C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450512
chr1:6450513 G
G
A
A
2 a0001c0002t0005g0033
a0008c0023t0005g0035
a0001c0002t0005g0033
a0008c0023t0005g0035
2 HG03098.hp2
NA19030.hp1
HG03098.hp2
NA19030.hp1
intron_variant MODIFIER c.1916-1090G>A
c.1916-1090G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450513
chr1:6450518 G
G
T
T
2 a0002c0003t0002g0005
a0002c0003t0002g0044
a0002c0003t0002g0005
a0002c0003t0002g0044
4 HG02257.hp2
HG02258.hp1
HG02717.hp1
others(1): Show 
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG03209.hp2
intron_variant MODIFIER c.1916-1085G>T
c.1916-1085G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450518
chr1:6450528 G
G
A
A
1 a0012c0029t0008g0174
a0012c0029t0008g0174
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.1916-1075G>A
c.1916-1075G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450528
chr1:6450606 A
A
T
T
11 a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
others(8): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0023t0005g0035
a0009c0010t0001g0022
15 HG01243.hp1
HG02055.hp2
HG02572.hp1
others(12): Show 
HG01243.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
NA19030.hp1
NA20300.hp1
intron_variant MODIFIER c.1916-997A>T
c.1916-997A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450606
chr1:6450608 A
A
C
C
11 a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
others(8): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0023t0005g0035
a0009c0010t0001g0022
15 HG01243.hp1
HG02055.hp2
HG02572.hp1
others(12): Show 
HG01243.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
NA19030.hp1
NA20300.hp1
intron_variant MODIFIER c.1916-995A>C
c.1916-995A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450608
chr1:6450724 T
T
G
G
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.1916-879T>G
c.1916-879T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450724
chr1:6450731 A
A
T
T
2 a0001c0002t0003g0191
a0001c0002t0003g0193
a0001c0002t0003g0191
a0001c0002t0003g0193
2 HG02165.hp2
NA18969.hp2
HG02165.hp2
NA18969.hp2
intron_variant MODIFIER c.1916-872A>T
c.1916-872A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450731
chr1:6450833 T
T
C
C
2 a0001c0001t0001g0122
a0001c0001t0001g0127
a0001c0001t0001g0122
a0001c0001t0001g0127
2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
intron_variant MODIFIER c.1916-770T>C
c.1916-770T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450833
chr1:6450838 C
C
T
T
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.1916-765C>T
c.1916-765C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450838
chr1:6450937 T
T
C
C
29 a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0005g0033
others(26): Show 
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0009g0177
a0002c0004t0012g0049
a0005c0007t0002g0014
a0005c0007t0002g0039
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0012c0029t0008g0174
a0015c0017t0002g0032
38 HG01243.hp1
HG01884.hp1
HG01891.hp1
others(35): Show 
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
intron_variant MODIFIER c.1916-666T>C
c.1916-666T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450937
chr1:6450976 G
G
A
A
3 a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
3 HG02258.hp2
HG02809.hp1
HG06807.hp2
HG02258.hp2
HG02809.hp1
HG06807.hp2
intron_variant MODIFIER c.1916-627G>A
c.1916-627G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6450976
chr1:6451024 A
A
G
G
87 a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0002g0045
others(84): Show 
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0002g0045
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
101 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(98): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1916-579A>G
c.1916-579A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451024
chr1:6451035 C
C
T
T
5 a0002c0003t0002g0047
a0002c0004t0002g0059
a0002c0004t0002g0069
others(2): Show 
a0002c0003t0002g0047
a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
a0010c0011t0003g0211
5 HG01891.hp2
HG02630.hp2
HG02922.hp2
others(2): Show 
HG01891.hp2
HG02630.hp2
HG02922.hp2
HG03471.hp2
NA19030.hp2
intron_variant MODIFIER c.1916-568C>T
c.1916-568C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451035
chr1:6451053 T
T
C
C
1 a0002c0003t0002g0047
a0002c0003t0002g0047
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.1916-550T>C
c.1916-550T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451053
chr1:6451141 T
T
C
C
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.1916-462T>C
c.1916-462T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451141
chr1:6451169 G
G
T
T
1 a0001c0001t0001g0167
a0001c0001t0001g0167
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.1916-434G>T
c.1916-434G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451169
chr1:6451498 A
A
C
C
1 a0001c0002t0002g0050
a0001c0002t0002g0050
1 NA18962.hp1
NA18962.hp1
intron_variant MODIFIER c.1916-105A>C
c.1916-105A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451498
chr1:6451499 C
C
A
A
1 a0001c0002t0002g0050
a0001c0002t0002g0050
1 NA18962.hp1
NA18962.hp1
intron_variant MODIFIER c.1916-104C>A
c.1916-104C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451499
chr1:6451522 A
A
G
G
87 a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0002g0045
others(84): Show 
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0002g0045
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
101 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(98): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1916-81A>G
c.1916-81A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 chr1 6451522
chr1:6451522 AG
AG
A
A
3 a0001c0001t0001g0114
a0001c0001t0001g0160
a0001c0001t0001g0170
a0001c0001t0001g0114
a0001c0001t0001g0160
a0001c0001t0001g0170
3 HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
intron_variant MODIFIER c.1916-77delG
c.1916-77delG
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 8/12 INFO_REALIGN_3_PRIME chr1 6451522
chr1:6451755 G
G
A
A
1 a0001c0001t0001g0123
a0001c0001t0001g0123
1 HG03942.hp2
HG03942.hp2
splice_region_variant&intron_variant LOW c.2061+7G>A
c.2061+7G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 9/12 chr1 6451755
chr1:6451778 C
C
T
T
1 a0004c0005t0003g0217
a0004c0005t0003g0217
1 HG02083.hp1
HG02083.hp1
intron_variant MODIFIER c.2061+30C>T
c.2061+30C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 9/12 chr1 6451778
chr1:6452185 G
G
A
A
4 a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
others(1): Show 
a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
a0010c0011t0003g0211
4 HG01891.hp2
HG02922.hp2
HG03471.hp2
others(1): Show 
HG01891.hp2
HG02922.hp2
HG03471.hp2
NA19030.hp2
intron_variant MODIFIER c.2325+89G>A
c.2325+89G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452185
chr1:6452214 T
T
C
C
1 a0002c0003t0002g0043
a0002c0003t0002g0043
1 HG03516.hp2
HG03516.hp2
intron_variant MODIFIER c.2325+118T>C
c.2325+118T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452214
chr1:6452326 T
T
C
C
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2325+230T>C
c.2325+230T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452326
chr1:6452450 G
G
C
C
2 a0001c0001t0001g0129
a0001c0001t0001g0136
a0001c0001t0001g0129
a0001c0001t0001g0136
2 HG01433.hp1
HG02602.hp2
HG01433.hp1
HG02602.hp2
intron_variant MODIFIER c.2325+354G>C
c.2325+354G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452450
chr1:6452487 T
T
C
C
128 a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
others(125): Show 
a0001c0001t0001g0016
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0099
a0001c0001t0001g0117
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0002g0045
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
150 HG00423.hp2
HG00735.hp1
HG00738.hp2
others(147): Show 
HG00423.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp2
NA18962.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19002.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2325+391T>C
c.2325+391T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452487
chr1:6452575 C
C
T
T
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.2325+479C>T
c.2325+479C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452575
chr1:6452682 G
G
T
T
13 a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
others(10): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0002g0037
a0002c0003t0010g0078
a0005c0007t0002g0014
a0005c0007t0002g0039
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
17 HG01243.hp1
HG01891.hp1
HG02055.hp2
others(14): Show 
HG01243.hp1
HG01891.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
NA18906.hp2
NA19030.hp1
NA20300.hp1
intron_variant MODIFIER c.2325+586G>T
c.2325+586G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452682
chr1:6452843 G
G
A
A
1 a0001c0002t0003g0221
a0001c0002t0003g0221
1 HG03195.hp2
HG03195.hp2
intron_variant MODIFIER c.2325+747G>A
c.2325+747G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452843
chr1:6452897 A
A
ATTTTTAT
others(1): Show 
ATTTTTATT
3 a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
3 HG03098.hp2
NA18906.hp2
NA19030.hp1
HG03098.hp2
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.2325+806_2325+807i
others(10): Show 
c.2325+806_2325+807insATTTTTTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 INFO_REALIGN_3_PRIME chr1 6452897
chr1:6452904 A
A
ATTTTTTT
ATTTTTTT
67 a0001c0001t0001g0128
a0001c0009t0002g0036
a0001c0009t0002g0038
others(64): Show 
a0001c0001t0001g0128
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
81 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(78): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2325+814_2325+815i
others(9): Show 
c.2325+814_2325+815insTTTTTTT
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 INFO_REALIGN_3_PRIME chr1 6452904
chr1:6452904 A
A
T
T
4 a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
others(1): Show 
a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
a0020c0030t0002g0158
4 HG02922.hp1
HG03098.hp2
NA18906.hp2
others(1): Show 
HG02922.hp1
HG03098.hp2
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.2325+808A>T
c.2325+808A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6452904
chr1:6453192 C
C
T
T
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.2325+1096C>T
c.2325+1096C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453192
chr1:6453328 G
G
C
C
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.2325+1232G>C
c.2325+1232G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453328
chr1:6453391 G
G
T
T
2 a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0110
a0001c0001t0001g0121
2 HG02735.hp2
HG03834.hp1
HG02735.hp2
HG03834.hp1
intron_variant MODIFIER c.2325+1295G>T
c.2325+1295G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453391
chr1:6453395 G
G
C
C
1 a0001c0002t0003g0195
a0001c0002t0003g0195
1 NA18975.hp2
NA18975.hp2
intron_variant MODIFIER c.2325+1299G>C
c.2325+1299G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453395
chr1:6453442 C
C
T
T
1 a0002c0004t0012g0049
a0002c0004t0012g0049
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.2325+1346C>T
c.2325+1346C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453442
chr1:6453504 A
A
G
G
1 a0020c0030t0002g0158
a0020c0030t0002g0158
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.2325+1408A>G
c.2325+1408A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453504
chr1:6453848 A
A
G
G
8 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0047
others(5): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0002g0047
a0002c0003t0002g0066
a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
a0010c0011t0003g0211
8 HG01891.hp2
HG02630.hp2
HG02922.hp2
others(5): Show 
HG01891.hp2
HG02630.hp2
HG02922.hp2
HG02976.hp2
HG03139.hp2
HG03471.hp2
NA19030.hp2
NA21309.hp2
intron_variant MODIFIER c.2325+1752A>G
c.2325+1752A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453848
chr1:6453966 A
A
T
T
6 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(3): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0009c0010t0001g0022
9 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(6): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2325+1870A>T
c.2325+1870A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453966
chr1:6453982 G
G
A
A
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.2325+1886G>A
c.2325+1886G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6453982
chr1:6454135 A
A
C
C
6 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(3): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0009c0010t0001g0022
9 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(6): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2325+2039A>C
c.2325+2039A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454135
chr1:6454156 C
C
T
T
2 a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0110
a0001c0001t0001g0121
2 HG02735.hp2
HG03834.hp1
HG02735.hp2
HG03834.hp1
intron_variant MODIFIER c.2325+2060C>T
c.2325+2060C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454156
chr1:6454175 G
G
A
A
1 a0002c0003t0001g0106
a0002c0003t0001g0106
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.2325+2079G>A
c.2325+2079G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454175
chr1:6454300 G
G
A
A
3 a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
a0001c0002t0005g0033
a0002c0003t0002g0037
a0008c0023t0005g0035
3 HG03098.hp2
NA18906.hp2
NA19030.hp1
HG03098.hp2
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.2325+2204G>A
c.2325+2204G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454300
chr1:6454843 C
C
T
T
9 a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
others(6): Show 
a0002c0003t0002g0013
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0178
a0002c0004t0002g0179
a0015c0017t0002g0032
14 HG01884.hp1
HG02055.hp1
HG02615.hp1
others(11): Show 
HG01884.hp1
HG02055.hp1
HG02615.hp1
HG02622.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03540.hp1
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.2326-2341C>T
c.2326-2341C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454843
chr1:6454968 G
G
A
A
3 a0001c0001t0001g0135
a0005c0007t0002g0014
a0005c0007t0002g0039
a0001c0001t0001g0135
a0005c0007t0002g0014
a0005c0007t0002g0039
4 HG02055.hp2
HG02717.hp2
HG02896.hp2
others(1): Show 
HG02055.hp2
HG02717.hp2
HG02896.hp2
HG03209.hp1
intron_variant MODIFIER c.2326-2216G>A
c.2326-2216G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6454968
chr1:6455015 G
G
A
A
2 a0010c0011t0003g0210
a0010c0011t0003g0211
a0010c0011t0003g0210
a0010c0011t0003g0211
2 HG01891.hp2
NA19030.hp2
HG01891.hp2
NA19030.hp2
intron_variant MODIFIER c.2326-2169G>A
c.2326-2169G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455015
chr1:6455165 C
C
T
T
1 a0001c0001t0001g0113
a0001c0001t0001g0113
1 HG00609.hp1
HG00609.hp1
intron_variant MODIFIER c.2326-2019C>T
c.2326-2019C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455165
chr1:6455178 C
C
A
A
5 a0002c0003t0002g0047
a0002c0004t0002g0059
a0002c0004t0002g0069
others(2): Show 
a0002c0003t0002g0047
a0002c0004t0002g0059
a0002c0004t0002g0069
a0010c0011t0003g0210
a0010c0011t0003g0211
5 HG01891.hp2
HG02630.hp2
HG02922.hp2
others(2): Show 
HG01891.hp2
HG02630.hp2
HG02922.hp2
HG03471.hp2
NA19030.hp2
intron_variant MODIFIER c.2326-2006C>A
c.2326-2006C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455178
chr1:6455218 G
G
T
T
3 a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
3 HG02683.hp1
NA18612.hp1
NA19002.hp1
HG02683.hp1
NA18612.hp1
NA19002.hp1
intron_variant MODIFIER c.2326-1966G>T
c.2326-1966G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455218
chr1:6455291 C
C
A
A
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.2326-1893C>A
c.2326-1893C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455291
chr1:6455313 T
T
TGGGCCTG
others(9): Show 
TGGGCCTGCCGCGGACC
1 a0001c0001t0002g0079
a0001c0001t0002g0079
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.2326-1870_2326-185
others(20): Show 
c.2326-1870_2326-1855dupGGGCCTGCCGCGGACC
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 INFO_REALIGN_3_PRIME chr1 6455313
chr1:6455348 G
G
T
T
1 a0019c0026t0003g0203
a0019c0026t0003g0203
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.2326-1836G>T
c.2326-1836G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455348
chr1:6455408 C
C
G
G
1 a0002c0003t0002g0047
a0002c0003t0002g0047
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.2326-1776C>G
c.2326-1776C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455408
chr1:6455418 C
C
T
T
1 a0002c0003t0001g0126
a0002c0003t0001g0126
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.2326-1766C>T
c.2326-1766C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455418
chr1:6455439 A
A
G
G
1 a0001c0001t0001g0090
a0001c0001t0001g0090
1 NA18973.hp2
NA18973.hp2
intron_variant MODIFIER c.2326-1745A>G
c.2326-1745A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455439
chr1:6455538 G
G
A
A
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.2326-1646G>A
c.2326-1646G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455538
chr1:6455600 G
G
A
A
2 a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0171
a0003c0006t0002g0172
2 HG02809.hp1
HG06807.hp2
HG02809.hp1
HG06807.hp2
intron_variant MODIFIER c.2326-1584G>A
c.2326-1584G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455600
chr1:6455723 C
C
T
T
1 a0002c0016t0001g0125
a0002c0016t0001g0125
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.2326-1461C>T
c.2326-1461C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455723
chr1:6455759 G
G
A
A
1 a0002c0004t0002g0181
a0002c0004t0002g0181
1 HG03579.hp1
HG03579.hp1
intron_variant MODIFIER c.2326-1425G>A
c.2326-1425G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455759
chr1:6455760 C
C
A
A
1 a0002c0004t0002g0181
a0002c0004t0002g0181
1 HG03579.hp1
HG03579.hp1
intron_variant MODIFIER c.2326-1424C>A
c.2326-1424C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455760
chr1:6455778 C
C
A
A
1 a0001c0001t0001g0140
a0001c0001t0001g0140
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.2326-1406C>A
c.2326-1406C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455778
chr1:6455813 C
C
G
G
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.2326-1371C>G
c.2326-1371C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6455813
chr1:6456110 C
C
T
T
6 a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
others(3): Show 
a0002c0003t0002g0006
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0008t0002g0006
a0003c0006t0002g0029
7 HG02559.hp2
HG02622.hp2
HG02970.hp2
others(4): Show 
HG02559.hp2
HG02622.hp2
HG02970.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
NA18522.hp1
intron_variant MODIFIER c.2326-1074C>T
c.2326-1074C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456110
chr1:6456229 C
C
T
T
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.2326-955C>T
c.2326-955C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456229
chr1:6456248 C
C
T
T
1 a0002c0004t0009g0177
a0002c0004t0009g0177
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.2326-936C>T
c.2326-936C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456248
chr1:6456267 C
C
T
T
4 a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
others(1): Show 
a0002c0004t0002g0056
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
4 HG02895.hp2
HG02970.hp1
HG03225.hp1
others(1): Show 
HG02895.hp2
HG02970.hp1
HG03225.hp1
HG03579.hp1
intron_variant MODIFIER c.2326-917C>T
c.2326-917C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456267
chr1:6456315 G
G
A
A
1 a0002c0004t0009g0177
a0002c0004t0009g0177
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.2326-869G>A
c.2326-869G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456315
chr1:6456542 C
C
T
T
2 a0005c0007t0002g0014
a0005c0007t0002g0039
a0005c0007t0002g0014
a0005c0007t0002g0039
3 HG02055.hp2
HG02717.hp2
HG03209.hp1
HG02055.hp2
HG02717.hp2
HG03209.hp1
intron_variant MODIFIER c.2326-642C>T
c.2326-642C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456542
chr1:6456582 T
T
A
A
222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
262 HG00280.hp1
HG00323.hp1
HG00423.hp1
others(259): Show 
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2326-602T>A
c.2326-602T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456582
chr1:6456587 C
C
A
A
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG02132.hp2
HG02132.hp2
intron_variant MODIFIER c.2326-597C>A
c.2326-597C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456587
chr1:6456745 A
A
G
G
1 a0002c0003t0002g0037
a0002c0003t0002g0037
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.2326-439A>G
c.2326-439A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456745
chr1:6456894 C
C
T
T
2 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0009t0002g0036
a0001c0009t0002g0038
2 HG02976.hp2
HG03139.hp2
HG02976.hp2
HG03139.hp2
intron_variant MODIFIER c.2326-290C>T
c.2326-290C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456894
chr1:6456925 C
C
T
T
1 a0001c0024t0002g0057
a0001c0024t0002g0057
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.2326-259C>T
c.2326-259C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456925
chr1:6456955 T
T
C
C
86 a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0002g0050
others(83): Show 
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
100 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(97): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2326-229T>C
c.2326-229T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456955
chr1:6456963 T
T
G
G
8 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(5): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0005c0007t0002g0014
a0005c0007t0002g0039
a0009c0010t0001g0022
12 HG01243.hp1
HG02055.hp2
HG02572.hp1
others(9): Show 
HG01243.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
NA20300.hp1
intron_variant MODIFIER c.2326-221T>G
c.2326-221T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456963
chr1:6456981 C
C
T
T
2 a0001c0002t0005g0033
a0002c0003t0002g0037
a0001c0002t0005g0033
a0002c0003t0002g0037
2 HG03098.hp2
NA18906.hp2
HG03098.hp2
NA18906.hp2
intron_variant MODIFIER c.2326-203C>T
c.2326-203C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456981
chr1:6456991 T
T
C
C
86 a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0002g0050
others(83): Show 
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
100 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(97): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2326-193T>C
c.2326-193T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6456991
chr1:6457066 A
A
G
G
20 a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
others(17): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0002g0047
a0002c0003t0002g0066
a0002c0003t0010g0078
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
24 HG01243.hp1
HG01891.hp2
HG02109.hp1
others(21): Show 
HG01243.hp1
HG01891.hp2
HG02109.hp1
HG02258.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
NA20300.hp1
NA21309.hp2
intron_variant MODIFIER c.2326-118A>G
c.2326-118A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6457066
chr1:6457071 T
T
A
A
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.2326-113T>A
c.2326-113T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6457071
chr1:6457119 G
G
C
C
34 a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
others(31): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0004t0002g0052
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0010c0011t0003g0210
a0010c0011t0003g0211
a0013c0028t0002g0175
a0020c0030t0002g0158
38 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(35): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01891.hp2
HG02027.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp2
NA19060.hp2
NA20129.hp1
NA21309.hp2
intron_variant MODIFIER c.2326-65G>C
c.2326-65G>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 10/12 chr1 6457119
chr1:6457313 G
G
A
A
1 a0001c0002t0005g0033
a0001c0002t0005g0033
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.2406-48G>A
c.2406-48G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 11/12 chr1 6457313
chr1:6457396 C
C
T
T
1 a0002c0004t0012g0049
a0002c0004t0012g0049
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.2417+24C>T
c.2417+24C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457396
chr1:6457492 C
C
T
T
4 a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
others(1): Show 
a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
a0020c0030t0002g0158
4 HG02145.hp1
HG02280.hp1
HG02723.hp1
others(1): Show 
HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02922.hp1
intron_variant MODIFIER c.2417+120C>T
c.2417+120C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457492
chr1:6457550 C
C
T
T
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+178C>T
c.2417+178C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457550
chr1:6457719 T
T
C
C
2 a0002c0003t0002g0005
a0002c0003t0002g0044
a0002c0003t0002g0005
a0002c0003t0002g0044
4 HG02257.hp2
HG02258.hp1
HG02717.hp1
others(1): Show 
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG03209.hp2
intron_variant MODIFIER c.2417+347T>C
c.2417+347T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457719
chr1:6457737 T
T
C
C
1 a0001c0002t0003g0196
a0001c0002t0003g0196
1 NA18747.hp2
NA18747.hp2
intron_variant MODIFIER c.2417+365T>C
c.2417+365T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457737
chr1:6457756 G
G
A
A
2 a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0205
a0001c0002t0003g0206
2 HG02451.hp2
HG02723.hp2
HG02451.hp2
HG02723.hp2
intron_variant MODIFIER c.2417+384G>A
c.2417+384G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6457756
chr1:6458007 C
C
T
T
1 a0001c0001t0001g0153
a0001c0001t0001g0153
1 NA19091.hp2
NA19091.hp2
intron_variant MODIFIER c.2417+635C>T
c.2417+635C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458007
chr1:6458008 G
G
GA
GA
14 a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0146
others(11): Show 
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0146
a0001c0002t0003g0197
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0002c0003t0002g0073
a0002c0003t0002g0085
a0008c0023t0005g0035
a0010c0011t0003g0210
a0017c0018t0001g0112
a0021c0014t0003g0198
16 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(13): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG01109.hp1
HG01192.hp2
HG01243.hp2
HG02630.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp2
HG03453.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.2417+657dupA
c.2417+657dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6458008
chr1:6458008 GA
GA
G
G
13 a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0167
others(10): Show 
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0167
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0002c0004t0002g0179
13 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(10): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01256.hp1
HG01346.hp1
HG02129.hp1
HG02735.hp2
HG02895.hp1
HG03834.hp1
HG04228.hp1
NA18946.hp1
NA18962.hp1
NA19012.hp2
intron_variant MODIFIER c.2417+657delA
c.2417+657delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6458008
chr1:6458008 GAAAAA
GAAAAA
G
G
5 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(2): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0009c0010t0001g0022
8 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(5): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2417+653_2417+657d
others(7): Show 
c.2417+653_2417+657delAAAAA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6458008
chr1:6458009 A
A
G
G
1 a0001c0002t0003g0200
a0001c0002t0003g0200
1 NA18944.hp1
NA18944.hp1
intron_variant MODIFIER c.2417+637A>G
c.2417+637A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458009
chr1:6458030 T
T
A
A
5 a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
others(2): Show 
a0006c0012t0002g0081
a0006c0012t0002g0084
a0013c0028t0002g0175
a0019c0026t0003g0203
a0020c0030t0002g0158
5 HG02145.hp1
HG02280.hp1
HG02723.hp1
others(2): Show 
HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02922.hp1
HG03130.hp1
intron_variant MODIFIER c.2417+658T>A
c.2417+658T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458030
chr1:6458030 T
T
G
G
5 a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
others(2): Show 
a0002c0004t0003g0185
a0003c0006t0002g0023
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
6 HG02109.hp1
HG02258.hp2
HG02559.hp1
others(3): Show 
HG02109.hp1
HG02258.hp2
HG02559.hp1
HG02809.hp1
HG03225.hp2
HG06807.hp2
intron_variant MODIFIER c.2417+658T>G
c.2417+658T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458030
chr1:6458032 T
T
G
G
4 a0001c0009t0002g0036
a0001c0009t0002g0038
a0005c0007t0002g0014
others(1): Show 
a0001c0009t0002g0036
a0001c0009t0002g0038
a0005c0007t0002g0014
a0005c0007t0002g0039
5 HG02055.hp2
HG02717.hp2
HG02976.hp2
others(2): Show 
HG02055.hp2
HG02717.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp1
intron_variant MODIFIER c.2417+660T>G
c.2417+660T>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458032
chr1:6458082 C
C
T
T
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.2417+710C>T
c.2417+710C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458082
chr1:6458083 G
G
T
T
1 a0001c0001t0001g0110
a0001c0001t0001g0110
1 HG03834.hp1
HG03834.hp1
intron_variant MODIFIER c.2417+711G>T
c.2417+711G>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458083
chr1:6458179 C
C
T
T
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.2417+807C>T
c.2417+807C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458179
chr1:6458462 C
C
T
T
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+1090C>T
c.2417+1090C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458462
chr1:6458463 C
C
G
G
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+1091C>G
c.2417+1091C>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458463
chr1:6458465 G
G
A
A
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+1093G>A
c.2417+1093G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458465
chr1:6458472 C
C
A
A
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+1100C>A
c.2417+1100C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458472
chr1:6458476 C
C
T
T
1 a0008c0022t0013g0034
a0008c0022t0013g0034
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2417+1104C>T
c.2417+1104C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458476
chr1:6458518 G
G
A
A
5 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(2): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0009c0010t0001g0022
8 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(5): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2417+1146G>A
c.2417+1146G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458518
chr1:6458596 G
G
A
A
1 a0001c0001t0001g0097
a0001c0001t0001g0097
1 NA18952.hp1
NA18952.hp1
intron_variant MODIFIER c.2417+1224G>A
c.2417+1224G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458596
chr1:6458627 T
T
A
A
1 a0002c0003t0002g0031
a0002c0003t0002g0031
1 HG03540.hp1
HG03540.hp1
intron_variant MODIFIER c.2417+1255T>A
c.2417+1255T>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458627
chr1:6458682 G
G
A
A
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.2417+1310G>A
c.2417+1310G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458682
chr1:6458702 G
G
A
A
1 a0001c0001t0001g0101
a0001c0001t0001g0101
1 HG02572.hp2
HG02572.hp2
intron_variant MODIFIER c.2418-1297G>A
c.2418-1297G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458702
chr1:6458736 G
G
A
A
2 a0001c0002t0003g0190
a0001c0002t0003g0199
a0001c0002t0003g0190
a0001c0002t0003g0199
2 HG02145.hp2
HG02886.hp2
HG02145.hp2
HG02886.hp2
intron_variant MODIFIER c.2418-1263G>A
c.2418-1263G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458736
chr1:6458792 G
G
A
A
1 a0008c0023t0005g0035
a0008c0023t0005g0035
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.2418-1207G>A
c.2418-1207G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458792
chr1:6458932 CA
CA
C
C
74 a0001c0001t0001g0095
a0001c0001t0001g0131
a0001c0001t0001g0135
others(71): Show 
a0001c0001t0001g0095
a0001c0001t0001g0131
a0001c0001t0001g0135
a0001c0002t0002g0061
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
87 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(84): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2418-1052delA
c.2418-1052delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6458932
chr1:6458957 C
C
T
T
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG02132.hp2
HG02132.hp2
intron_variant MODIFIER c.2418-1042C>T
c.2418-1042C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458957
chr1:6458998 T
T
C
C
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.2418-1001T>C
c.2418-1001T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6458998
chr1:6459054 A
A
G
G
6 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(3): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0009c0010t0001g0022
9 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(6): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2418-945A>G
c.2418-945A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459054
chr1:6459102 A
A
G
G
1 a0013c0028t0002g0175
a0013c0028t0002g0175
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.2418-897A>G
c.2418-897A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459102
chr1:6459110 A
A
G
G
86 a0001c0001t0001g0070
a0001c0001t0001g0135
a0001c0002t0002g0050
others(83): Show 
a0001c0001t0001g0070
a0001c0001t0001g0135
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
100 HG00735.hp1
HG00738.hp2
HG01070.hp1
others(97): Show 
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18962.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2418-889A>G
c.2418-889A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459110
chr1:6459112 G
G
A
A
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.2418-887G>A
c.2418-887G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459112
chr1:6459150 A
A
C
C
1 a0001c0001t0001g0101
a0001c0001t0001g0101
1 HG02572.hp2
HG02572.hp2
intron_variant MODIFIER c.2418-849A>C
c.2418-849A>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459150
chr1:6459198 G
G
A
A
1 a0001c0002t0005g0033
a0001c0002t0005g0033
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.2418-801G>A
c.2418-801G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459198
chr1:6459244 T
T
TA
TA
9 a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
others(6): Show 
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0011c0015t0002g0064
9 HG00738.hp2
HG01071.hp1
HG01106.hp1
others(6): Show 
HG00738.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp1
HG01256.hp1
HG01346.hp1
NA18946.hp1
NA18962.hp1
NA19012.hp2
intron_variant MODIFIER c.2418-741dupA
c.2418-741dupA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6459244
chr1:6459244 TA
TA
T
T
62 a0001c0001t0001g0135
a0001c0002t0005g0033
a0001c0009t0002g0036
others(59): Show 
a0001c0001t0001g0135
a0001c0002t0005g0033
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0010c0011t0003g0210
a0010c0011t0003g0211
a0012c0029t0008g0174
a0013c0028t0002g0175
a0015c0017t0002g0032
a0020c0030t0002g0158
72 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(69): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03831.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2418-741delA
c.2418-741delA
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 INFO_REALIGN_3_PRIME chr1 6459244
chr1:6459338 T
T
C
C
6 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(3): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0009c0010t0001g0022
9 HG01243.hp1
HG02572.hp1
HG02615.hp2
others(6): Show 
HG01243.hp1
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2418-661T>C
c.2418-661T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459338
chr1:6459393 G
G
A
A
1 a0001c0001t0001g0130
a0001c0001t0001g0130
1 HG01074.hp1
HG01074.hp1
intron_variant MODIFIER c.2418-606G>A
c.2418-606G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459393
chr1:6459402 A
A
T
T
7 a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
others(4): Show 
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0010g0078
a0002c0003t0011g0040
a0009c0010t0001g0022
10 HG01243.hp1
HG01884.hp2
HG02572.hp1
others(7): Show 
HG01243.hp1
HG01884.hp2
HG02572.hp1
HG02615.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03130.hp2
HG03195.hp1
NA20300.hp1
intron_variant MODIFIER c.2418-597A>T
c.2418-597A>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459402
chr1:6459430 G
G
A
A
1 a0001c0001t0001g0118
a0001c0001t0001g0118
1 NA20905.hp1
NA20905.hp1
intron_variant MODIFIER c.2418-569G>A
c.2418-569G>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459430
chr1:6459493 T
T
C
C
222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0079
a0001c0001t0002g0082
a0001c0001t0003g0026
a0001c0001t0003g0218
a0001c0001t0004g0001
a0001c0001t0004g0148
a0001c0001t0007g0020
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0053
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0060
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0065
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0004
a0001c0002t0003g0012
a0001c0002t0003g0025
a0001c0002t0003g0186
a0001c0002t0003g0187
a0001c0002t0003g0188
a0001c0002t0003g0189
a0001c0002t0003g0190
a0001c0002t0003g0191
a0001c0002t0003g0192
a0001c0002t0003g0193
a0001c0002t0003g0194
a0001c0002t0003g0195
a0001c0002t0003g0196
a0001c0002t0003g0197
a0001c0002t0003g0199
a0001c0002t0003g0200
a0001c0002t0003g0201
a0001c0002t0003g0202
a0001c0002t0003g0204
a0001c0002t0003g0205
a0001c0002t0003g0206
a0001c0002t0003g0207
a0001c0002t0003g0213
a0001c0002t0003g0220
a0001c0002t0003g0221
a0001c0002t0003g0222
a0001c0002t0003g0223
a0001c0002t0005g0033
a0001c0002t0014g0184
a0001c0009t0002g0036
a0001c0009t0002g0038
a0001c0024t0002g0057
a0001c0027t0001g0147
a0001c0031t0001g0094
a0002c0003t0001g0008
a0002c0003t0001g0105
a0002c0003t0001g0106
a0002c0003t0001g0107
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0006
a0002c0003t0002g0013
a0002c0003t0002g0015
a0002c0003t0002g0028
a0002c0003t0002g0030
a0002c0003t0002g0031
a0002c0003t0002g0037
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0047
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0066
a0002c0003t0002g0073
a0002c0003t0002g0080
a0002c0003t0002g0083
a0002c0003t0002g0085
a0002c0003t0002g0086
a0002c0003t0010g0078
a0002c0003t0011g0040
a0002c0004t0002g0003
a0002c0004t0002g0024
a0002c0004t0002g0052
a0002c0004t0002g0056
a0002c0004t0002g0059
a0002c0004t0002g0069
a0002c0004t0002g0178
a0002c0004t0002g0179
a0002c0004t0002g0180
a0002c0004t0002g0181
a0002c0004t0002g0182
a0002c0004t0003g0185
a0002c0004t0003g0219
a0002c0004t0009g0177
a0002c0004t0012g0049
a0002c0008t0002g0006
a0002c0016t0001g0125
a0002c0025t0001g0159
a0003c0006t0002g0023
a0003c0006t0002g0029
a0003c0006t0002g0171
a0003c0006t0002g0172
a0003c0006t0002g0173
a0003c0006t0002g0176
a0004c0005t0003g0027
a0004c0005t0003g0183
a0004c0005t0003g0214
a0004c0005t0003g0215
a0004c0005t0003g0216
a0004c0005t0003g0217
a0005c0007t0002g0014
a0005c0007t0002g0039
a0006c0012t0002g0081
a0006c0012t0002g0084
a0007c0013t0006g0208
a0007c0013t0006g0209
a0008c0022t0013g0034
a0008c0023t0005g0035
a0009c0010t0001g0022
a0010c0011t0003g0210
a0010c0011t0003g0211
a0011c0015t0002g0064
a0012c0029t0008g0174
a0013c0028t0002g0175
a0014c0020t0001g0111
a0015c0017t0002g0032
a0016c0019t0001g0093
a0017c0018t0001g0112
a0018c0021t0003g0212
a0019c0026t0003g0203
a0020c0030t0002g0158
a0021c0014t0003g0198
262 HG00280.hp1
HG00323.hp1
HG00423.hp1
others(259): Show 
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.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
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.2418-506T>C
c.2418-506T>C
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459493
chr1:6459781 C
C
T
T
1 a0014c0020t0001g0111
a0014c0020t0001g0111
1 HG01255.hp2
HG01255.hp2
intron_variant MODIFIER c.2418-218C>T
c.2418-218C>T
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459781
chr1:6459838 A
A
G
G
1 a0002c0003t0011g0040
a0002c0003t0011g0040
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.2418-161A>G
c.2418-161A>G
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459838
chr1:6459964 C
C
A
A
17 a0001c0001t0001g0128
a0002c0003t0001g0124
a0002c0003t0001g0126
others(14): Show 
a0001c0001t0001g0128
a0002c0003t0001g0124
a0002c0003t0001g0126
a0002c0003t0001g0151
a0002c0003t0002g0005
a0002c0003t0002g0015
a0002c0003t0002g0041
a0002c0003t0002g0042
a0002c0003t0002g0043
a0002c0003t0002g0044
a0002c0003t0002g0048
a0002c0003t0002g0054
a0002c0003t0002g0073
a0002c0004t0002g0052
a0002c0004t0003g0219
a0002c0016t0001g0125
a0002c0025t0001g0159
20 HG00735.hp1
HG01074.hp2
HG01175.hp2
others(17): Show 
HG00735.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01496.hp1
HG01517.hp2
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp1
HG03017.hp1
HG03209.hp2
HG03516.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp2
NA19060.hp2
intron_variant MODIFIER c.2418-35C>A
c.2418-35C>A
ESPN ENSG00000187017.18 transcript ENST00000645284.1 protein_coding 12/12 chr1 6459964

  • 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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