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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   LSS_chr21_46183446_46233774  LSS_chr21_46183446_46233774 (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 4047
ensemblid ENSG00000160285.15
hgncid 6708
symbol LSS
name lanosterol synthase
refseq_nuc NM_002340.6
refseq_prot NP_002331.3
ensembl_nuc ENST00000397728.8
ensembl_prot ENSP00000380837.2
mane_status MANE Select
chr chr21
start 46188446
end 46228774
strand -
ver v1.2
region chr21:46188446-46228774
region5000 chr21:46183446-46233774
regionname0 LSS_chr21_46188446_46228774
regionname5000 LSS_chr21_46183446_46233774

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 732 190 51 34 80 6 18 57 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002 1/0 732 86 5 19 40 6 15 29 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003 0/0 732 45 9 8 14 2 12 11 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0004 0/0 732 11 11 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0005 0/0 732 9 2 5 0 1 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0006 0/0 732 3 2 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0007 0/0 732 3 3 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0008 0/0 732 2 2 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0009 0/0 732 2 2 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0010 0/0 732 1 0 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0011 0/0 732 1 0 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0012 0/0 732 1 0 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0013 0/0 732 1 0 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0014 0/0 732 1 0 0 1 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0015 0/0 732 1 1 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0016 0/0 732 1 0 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 2199 94 6 13 69 2 4 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0002 1/0 2199 77 5 18 35 6 12 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0003 0/0 2199 45 9 8 14 2 12 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0004 0/1 2199 41 9 14 7 3 7 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0005 0/0 2199 27 17 1 3 0 6 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0006 0/0 2199 19 12 4 1 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0007 0/0 2199 11 11 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0008 0/0 2199 9 2 5 0 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0009 0/0 2199 7 5 2 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0010 0/0 2199 3 3 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0011 0/0 2199 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0012 0/0 2199 3 0 0 3 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0013 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0014 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0015 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0016 0/0 2199 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0017 0/0 2199 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0018 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0019 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0020 0/0 2199 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0021 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0022 0/0 2199 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0023 0/0 2199 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0024 0/0 2199 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0025 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0026 0/0 2199 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
c0027 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 2688 151 30 20 82 5 14 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0002 1/0 2688 82 5 19 36 6 15 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0003 0/1 2688 28 3 10 7 2 5 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0004 0/0 2688 18 9 7 0 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0005 0/0 1558 13 13 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0006 0/0 2688 10 0 0 3 0 7 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0007 0/0 2687 8 7 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0008 0/0 2687 7 2 2 0 0 3 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0009 0/0 2688 5 5 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0010 0/0 2702 4 0 3 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0011 0/0 2688 4 3 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0012 0/0 2688 4 4 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0013 0/0 2688 3 0 0 3 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0014 0/0 2688 3 3 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0015 0/0 2688 2 1 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0016 0/0 2688 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0017 0/0 2688 2 0 1 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0018 0/0 2688 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0019 0/0 2687 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0020 0/0 2687 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0021 0/0 2688 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0022 0/0 2688 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0023 0/0 2688 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0024 0/0 2688 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0025 0/0 2688 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0026 0/0 2688 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0027 0/0 2688 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0028 0/0 2688 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
t0029 0/0 2688 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 18 0 3 14 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0002 0/0 10 0 2 7 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0003 0/1 4 1 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0004 0/0 4 0 0 3 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0005 0/0 4 4 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0006 0/0 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0007 0/0 3 0 2 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0008 0/0 3 0 3 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0009 0/0 3 0 1 0 1 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0010 0/0 2 1 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0011 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0012 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0013 0/0 2 0 1 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0014 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0015 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0016 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0017 0/0 2 0 0 1 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0018 0/0 2 0 1 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0019 0/0 2 0 1 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0020 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0021 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0022 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0023 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0024 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0025 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0026 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0027 0/0 2 0 0 1 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0028 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0029 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0030 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0031 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0032 0/0 2 0 1 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0033 0/0 2 0 0 0 0 2 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0034 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0035 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0036 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0037 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0038 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0039 0/0 2 0 0 0 0 2 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0040 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0041 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0042 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0043 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0044 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0045 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0046 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0047 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0048 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0049 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0050 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0051 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0052 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0053 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0054 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0055 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0056 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0057 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0058 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0059 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0060 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0061 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0062 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0063 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0064 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0065 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0066 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0067 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0068 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0069 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0070 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0071 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0072 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0073 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0074 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0075 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0076 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0077 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0078 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0079 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0080 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0081 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0082 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0083 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0084 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0085 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0086 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0087 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0088 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0089 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0090 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0091 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0092 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0093 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0094 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0095 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0096 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0097 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0098 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0099 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0100 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0101 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0102 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0103 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0104 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0105 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0106 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0107 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0108 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0109 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0110 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0111 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0112 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0113 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0114 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0115 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0116 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0117 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0118 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0119 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0120 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0121 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0122 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0123 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0124 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0125 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0126 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0127 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0128 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0129 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0130 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0131 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0132 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0133 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0134 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0135 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0136 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0137 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0138 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0139 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0140 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0141 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0142 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0143 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0144 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0145 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0146 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0147 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0148 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0149 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0150 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0151 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0152 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0153 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0154 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0155 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0156 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0157 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0158 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0159 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0160 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0161 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0162 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0163 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0164 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0165 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0166 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0167 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0168 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0169 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0170 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0171 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0172 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0173 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0174 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0175 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0176 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0177 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0178 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0179 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0180 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0181 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0182 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0183 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0184 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0185 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0186 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0187 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0188 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0189 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0190 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0191 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0192 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0193 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0194 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0195 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0196 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0197 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0198 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0199 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0200 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0201 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0202 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0203 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0204 1/0 1 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0205 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0206 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0207 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0208 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0209 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0210 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0211 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0212 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0213 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0214 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0215 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0216 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0217 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0218 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0219 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0220 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0221 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0222 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0223 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0224 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0225 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0226 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0227 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0228 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0229 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0230 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0231 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0232 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0233 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0234 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0235 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0236 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0237 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0238 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0239 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0240 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0241 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0242 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0243 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0244 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0245 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0246 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0247 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0248 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0249 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0250 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0251 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0252 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0253 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0254 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0255 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0256 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0257 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0258 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0259 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0260 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0261 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0262 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0263 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0264 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0265 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0266 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0267 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0268 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0269 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0270 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0271 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0272 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0273 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0274 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0275 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0276 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0277 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0278 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0279 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0280 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0281 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0282 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0283 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
g0284 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 2199 94 6 13 69 2 4 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004 0/1 2199 41 9 14 7 3 7 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0005 0/0 2199 27 17 1 3 0 6 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006 0/0 2199 19 12 4 1 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0009 0/0 2199 7 5 2 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0015 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002 1/0 2199 77 5 18 35 6 12 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0012 0/0 2199 3 0 0 3 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0016 0/0 2199 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0018 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0021 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0023 0/0 2199 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0025 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003c0003 0/0 2199 45 9 8 14 2 12 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0004c0007 0/0 2199 11 11 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0005c0008 0/0 2199 9 2 5 0 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0006c0011 0/0 2199 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0007c0010 0/0 2199 3 3 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0008c0013 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0009c0014 0/0 2199 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0010c0027 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0011c0020 0/0 2199 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0012c0022 0/0 2199 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0013c0019 0/0 2199 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0014c0024 0/0 2199 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0015c0017 0/0 2199 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0016c0026 0/0 2199 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 4886 89 6 11 67 2 3 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0001t0017 0/0 4886 2 0 1 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0001t0020 0/0 4885 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0001t0023 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0001t0028 0/0 4886 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0003 0/1 4886 28 3 10 7 2 5 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0007 0/0 4885 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0008 0/0 4885 3 0 1 0 0 2 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0011 0/0 4886 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0012 0/0 4886 4 4 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0019 0/0 4885 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0004t0026 0/0 4886 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0005t0001 0/0 4886 13 13 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0005t0006 0/0 4886 9 0 0 3 0 6 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0005t0009 0/0 4886 4 4 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0005t0024 0/0 4886 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0001 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0005 0/0 3756 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0007 0/0 4885 7 7 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0008 0/0 4885 4 2 1 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0010 0/0 4900 4 0 3 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0006t0011 0/0 4886 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0009t0004 0/0 4886 7 5 2 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0015t0001 0/0 4886 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0001c0015t0025 0/0 4886 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002t0002 1/0 4886 72 5 18 31 6 11 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002t0013 0/0 4886 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002t0021 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002t0022 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0002t0029 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0012t0002 0/0 4886 3 0 0 3 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0016t0002 0/0 4886 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0018t0002 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0021t0002 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0023t0002 0/0 4886 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0002c0025t0002 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003c0003t0001 0/0 4886 41 8 7 13 2 11 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003c0003t0015 0/0 4886 2 1 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003c0003t0018 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0003c0003t0027 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0004c0007t0005 0/0 3756 11 11 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0005c0008t0004 0/0 4886 9 2 5 0 1 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0006c0011t0001 0/0 4886 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0007c0010t0014 0/0 4886 3 3 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0008c0013t0016 0/0 4886 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0009c0014t0004 0/0 4886 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0010c0027t0006 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0011c0020t0001 0/0 4886 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0012c0022t0001 0/0 4886 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0013c0019t0002 0/0 4886 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0014c0024t0013 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0015c0017t0009 0/0 4886 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774
a0016c0026t0001 0/0 4886 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS copy fasta chr21 46183446 46233774

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 18 0 3 14 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0008 0/0 3 0 3 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0027 0/0 2 0 0 1 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0028 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0030 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0031 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0125 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0129 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0146 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0147 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0148 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0149 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0152 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0156 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0157 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0158 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0159 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0167 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0171 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0172 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0175 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0176 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0177 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0178 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0186 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0189 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0190 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0191 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0194 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0195 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0196 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0198 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0200 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0210 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0240 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0241 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0272 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0001g0276 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0017g0179 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0017g0182 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0020g0201 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0023g0193 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0001t0028g0185 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0003 0/1 4 1 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0007 0/0 3 0 2 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0025 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0026 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0127 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0128 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0130 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0132 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0133 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0134 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0135 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0136 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0137 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0139 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0140 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0141 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0142 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0143 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0144 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0238 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0003g0259 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0007g0145 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0008g0250 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0008g0252 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0008g0255 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0011g0244 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0011g0245 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0011g0246 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0012g0206 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0012g0207 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0012g0208 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0012g0209 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0019g0251 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0004t0026g0138 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0005 0/0 4 4 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0040 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0269 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0270 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0277 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0278 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0279 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0282 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0001g0283 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0006g0004 0/0 4 0 0 3 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0006g0039 0/0 2 0 0 0 0 2 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0006g0260 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0006g0261 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0006g0262 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0009g0273 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0009g0274 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0009g0280 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0009g0281 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0005t0024g0275 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0001g0070 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0005g0049 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0005g0056 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0038 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0247 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0248 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0256 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0257 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0007g0258 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0008g0096 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0008g0249 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0008g0253 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0008g0254 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0010g0120 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0010g0121 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0010g0122 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0010g0123 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0006t0011g0045 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0009t0004g0022 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0009t0004g0023 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0009t0004g0024 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0009t0004g0126 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0015t0001g0124 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0001c0015t0025g0183 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0002 0/0 10 0 2 7 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0006 0/0 3 2 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0013 0/0 2 0 1 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0014 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0015 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0016 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0017 0/0 2 0 0 1 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0018 0/0 2 0 1 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0019 0/0 2 0 1 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0061 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0063 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0064 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0065 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0066 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0067 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0068 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0069 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0071 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0072 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0073 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0074 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0075 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0076 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0077 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0078 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0079 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0080 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0083 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0086 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0087 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0088 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0089 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0091 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0093 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0094 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0097 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0098 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0099 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0100 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0103 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0104 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0105 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0106 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0107 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0108 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0109 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0110 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0113 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0114 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0115 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0118 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0119 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0204 1/0 1 0 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0002g0265 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0013g0084 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0013g0085 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0021g0062 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0022g0081 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0002t0029g0082 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0012t0002g0020 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0012t0002g0111 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0016t0002g0090 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0016t0002g0092 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0018t0002g0046 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0021t0002g0116 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0023t0002g0095 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0002c0025t0002g0102 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0009 0/0 3 0 1 0 1 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0032 0/0 2 0 1 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0033 0/0 2 0 0 0 0 2 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0034 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0035 0/0 2 0 0 2 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0036 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0037 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0117 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0131 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0211 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0212 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0213 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0214 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0215 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0219 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0220 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0221 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0222 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0223 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0224 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0225 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0227 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0228 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0229 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0230 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0232 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0233 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0235 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0236 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0237 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0239 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0242 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0001g0243 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0015g0226 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0015g0231 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0018g0041 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0003c0003t0027g0234 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0012 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0047 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0051 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0052 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0053 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0054 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0055 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0059 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0264 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0004c0007t0005g0284 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0010 0/0 2 1 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0011 0/0 2 0 2 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0048 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0050 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0057 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0058 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0005c0008t0004g0060 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0006c0011t0001g0216 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0006c0011t0001g0217 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0006c0011t0001g0218 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0007c0010t0014g0266 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0007c0010t0014g0267 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0007c0010t0014g0268 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0008c0013t0016g0043 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0008c0013t0016g0044 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0009c0014t0004g0021 0/0 2 2 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0010c0027t0006g0263 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0011c0020t0001g0173 0/0 1 0 0 0 1 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0012c0022t0001g0188 0/0 1 0 1 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0013c0019t0002g0112 0/0 1 0 0 0 0 1 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0014c0024t0013g0101 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0015c0017t0009g0271 0/0 1 1 0 0 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
a0016c0026t0001g0199 0/0 1 0 0 1 0 0 LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0003 c0003 t0001 g0211 EUR GBR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00099 hp2 a0001 c0001 t0001 g0176 EUR GBR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00140 hp1 a0002 c0002 t0002 g0074 EUR GBR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00140 hp2 a0001 c0004 t0003 g0007 EUR GBR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00280 hp2 a0003 c0003 t0001 g0009 EUR FIN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00323 hp1 a0002 c0002 t0002 g0017 EUR FIN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00323 hp2 a0001 c0004 t0003 g0128 EUR FIN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00423 hp1 a0001 c0001 t0001 g0129 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00423 hp2 a0001 c0001 t0001 g0150 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00544 hp1 a0001 c0001 t0001 g0029 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00544 hp2 a0002 c0002 t0002 g0107 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00558 hp1 a0003 c0003 t0001 g0034 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00558 hp2 a0002 c0002 t0013 g0085 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00597 hp1 a0001 c0001 t0001 g0169 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00597 hp2 a0001 c0004 t0003 g0133 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00609 hp1 a0003 c0003 t0001 g0225 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00609 hp2 a0002 c0002 t0002 g0002 EAS CHS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00639 hp1 a0002 c0023 t0002 g0095 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00639 hp2 a0001 c0006 t0008 g0249 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00642 hp1 a0002 c0002 t0002 g0113 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00738 hp1 a0003 c0003 t0001 g0233 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00738 hp2 a0002 c0002 t0002 g0006 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00741 hp1 a0002 c0002 t0002 g0076 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG00741 hp2 a0001 c0004 t0003 g0025 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01069 hp1 a0005 c0008 t0004 g0011 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01069 hp2 a0001 c0006 t0010 g0122 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01070 hp1 a0002 c0002 t0002 g0064 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01070 hp2 a0001 c0004 t0003 g0003 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01071 hp1 a0005 c0008 t0004 g0011 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01071 hp2 a0001 c0004 t0003 g0003 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01074 hp1 a0001 c0004 t0007 g0145 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01074 hp2 a0001 c0004 t0003 g0025 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01099 hp1 a0005 c0008 t0004 g0058 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01099 hp2 a0001 c0001 t0001 g0008 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01106 hp1 a0001 c0004 t0003 g0139 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01106 hp2 a0001 c0006 t0010 g0121 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01109 hp1 a0001 c0004 t0011 g0246 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01109 hp2 a0001 c0004 t0003 g0127 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01167 hp1 a0002 c0002 t0002 g0016 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01167 hp2 a0006 c0011 t0001 g0217 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01168 hp1 a0005 c0008 t0004 g0060 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01168 hp2 a0003 c0003 t0001 g0131 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01175 hp1 a0002 c0002 t0002 g0087 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01175 hp2 a0001 c0001 t0001 g0190 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01192 hp1 a0002 c0002 t0002 g0002 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01192 hp2 a0001 c0006 t0010 g0123 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01243 hp1 a0001 c0004 t0026 g0138 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01243 hp2 a0001 c0001 t0001 g0167 AMR PUR LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01256 hp1 a0001 c0004 t0003 g0007 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01256 hp2 a0003 c0003 t0001 g0009 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01257 hp1 a0001 c0004 t0003 g0143 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01257 hp2 a0001 c0009 t0004 g0024 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01258 hp1 a0001 c0009 t0004 g0024 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01258 hp2 a0001 c0004 t0003 g0007 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01261 hp1 a0005 c0008 t0004 g0048 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01261 hp2 a0003 c0003 t0001 g0229 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01346 hp1 a0002 c0002 t0002 g0075 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01346 hp2 a0002 c0002 t0002 g0016 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01361 hp1 a0003 c0003 t0001 g0212 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01361 hp2 a0002 c0002 t0002 g0063 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01433 hp1 a0001 c0004 t0003 g0137 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01433 hp2 a0001 c0004 t0008 g0250 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01496 hp1 a0001 c0001 t0017 g0179 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01496 hp2 a0001 c0001 t0001 g0008 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01515 hp1 a0002 c0002 t0002 g0077 EUR IBS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01515 hp2 a0001 c0004 t0019 g0251 EUR IBS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01516 hp1 a0011 c0020 t0001 g0173 EUR IBS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01516 hp2 a0002 c0002 t0002 g0078 EUR IBS LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01884 hp1 a0001 c0006 t0007 g0247 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01884 hp2 a0001 c0005 t0001 g0005 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01891 hp1 a0001 c0001 t0001 g0276 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01891 hp2 a0005 c0008 t0004 g0010 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01928 hp1 a0002 c0002 t0002 g0086 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01928 hp2 a0001 c0001 t0001 g0186 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01952 hp1 a0001 c0001 t0001 g0146 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01952 hp2 a0002 c0002 t0002 g0002 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01975 hp1 a0002 c0002 t0002 g0013 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01975 hp2 a0001 c0001 t0028 g0185 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01978 hp1 a0001 c0005 t0024 g0275 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01978 hp2 a0001 c0001 t0001 g0008 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01981 hp1 a0002 c0002 t0002 g0114 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01981 hp2 a0003 c0003 t0001 g0032 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01993 hp1 a0002 c0002 t0002 g0019 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01993 hp2 a0001 c0001 t0001 g0001 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02004 hp1 a0012 c0022 t0001 g0188 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02004 hp2 a0002 c0002 t0002 g0083 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02015 hp1 a0001 c0001 t0001 g0001 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02015 hp2 a0002 c0016 t0002 g0090 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02040 hp1 a0002 c0002 t0029 g0082 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02040 hp2 a0001 c0001 t0001 g0205 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02055 hp1 a0001 c0006 t0008 g0254 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02055 hp2 a0001 c0004 t0012 g0206 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02056 hp1 a0002 c0002 t0002 g0014 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02056 hp2 a0001 c0001 t0001 g0149 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02071 hp1 a0002 c0002 t0002 g0104 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02071 hp2 a0001 c0001 t0001 g0210 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02074 hp1 a0002 c0002 t0002 g0002 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02074 hp2 a0001 c0001 t0001 g0148 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02080 hp1 a0002 c0016 t0002 g0092 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02080 hp2 a0001 c0001 t0001 g0170 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02083 hp1 a0001 c0001 t0001 g0178 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02083 hp2 a0016 c0026 t0001 g0199 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02129 hp1 a0002 c0002 t0002 g0080 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02129 hp2 a0003 c0003 t0001 g0242 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02132 hp1 a0001 c0001 t0001 g0180 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02132 hp2 a0002 c0002 t0013 g0084 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02135 hp1 a0001 c0001 t0001 g0162 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02135 hp2 a0001 c0001 t0001 g0001 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02148 hp1 a0001 c0001 t0001 g0189 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02148 hp2 a0003 c0003 t0015 g0226 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02155 hp1 a0001 c0001 t0001 g0152 EAS CDX LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02155 hp2 a0001 c0001 t0001 g0001 EAS CDX LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02165 hp1 a0001 c0001 t0001 g0168 EAS CDX LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02165 hp2 a0001 c0001 t0001 g0194 EAS CDX LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02258 hp1 a0001 c0005 t0009 g0273 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02258 hp2 a0001 c0005 t0001 g0283 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02273 hp1 a0002 c0002 t0002 g0094 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02273 hp2 a0001 c0001 t0001 g0001 AMR PEL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02280 hp1 a0001 c0015 t0001 g0124 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02280 hp2 a0007 c0010 t0014 g0267 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02451 hp1 a0001 c0005 t0001 g0269 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02451 hp2 a0004 c0007 t0005 g0047 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02523 hp1 a0001 c0004 t0003 g0132 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02523 hp2 a0001 c0001 t0001 g0184 EAS KHV LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02572 hp1 a0001 c0009 t0004 g0022 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02572 hp2 a0001 c0005 t0009 g0280 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02615 hp1 a0001 c0004 t0011 g0244 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02615 hp2 a0004 c0007 t0005 g0284 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02622 hp1 a0003 c0003 t0001 g0036 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02622 hp2 a0004 c0007 t0005 g0059 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02630 hp1 a0001 c0006 t0007 g0257 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02630 hp2 a0001 c0006 t0007 g0258 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02647 hp1 a0004 c0007 t0005 g0012 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02647 hp2 a0001 c0005 t0001 g0005 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02683 hp1 a0003 c0003 t0001 g0032 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02683 hp2 a0005 c0008 t0004 g0010 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02698 hp1 a0001 c0004 t0003 g0136 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02698 hp2 a0001 c0005 t0006 g0261 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02717 hp1 a0001 c0001 t0001 g0172 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02717 hp2 a0002 c0002 t0002 g0068 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02723 hp1 a0001 c0006 t0007 g0038 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02723 hp2 a0001 c0005 t0001 g0282 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02735 hp1 a0002 c0002 t0002 g0089 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02735 hp2 a0003 c0003 t0001 g0033 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02738 hp1 a0002 c0002 t0002 g0115 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02738 hp2 a0001 c0004 t0003 g0142 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02818 hp1 a0002 c0002 t0002 g0069 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02818 hp2 a0001 c0015 t0025 g0183 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02886 hp1 a0007 c0010 t0014 g0268 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02886 hp2 a0004 c0007 t0005 g0053 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02895 hp1 a0001 c0004 t0012 g0209 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02895 hp2 a0001 c0005 t0009 g0281 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02896 hp1 a0003 c0003 t0001 g0215 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02896 hp2 a0009 c0014 t0004 g0021 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02897 hp1 a0001 c0004 t0012 g0208 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02897 hp2 a0009 c0014 t0004 g0021 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02922 hp1 a0004 c0007 t0005 g0052 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02922 hp2 a0001 c0004 t0003 g0144 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02965 hp1 a0001 c0005 t0001 g0277 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02965 hp2 a0001 c0009 t0004 g0126 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02970 hp1 a0001 c0006 t0008 g0253 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02970 hp2 a0001 c0005 t0001 g0040 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02976 hp1 a0003 c0003 t0001 g0219 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02976 hp2 a0001 c0009 t0004 g0023 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03017 hp1 a0002 c0002 t0002 g0061 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03017 hp2 a0002 c0002 t0021 g0062 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03041 hp1 a0001 c0006 t0007 g0248 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03041 hp2 a0015 c0017 t0009 g0271 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03098 hp1 a0006 c0011 t0001 g0216 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03098 hp2 a0004 c0007 t0005 g0055 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03130 hp1 a0003 c0003 t0001 g0036 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03130 hp2 a0001 c0001 t0001 g0272 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03139 hp1 a0001 c0004 t0011 g0245 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03139 hp2 a0001 c0001 t0001 g0191 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03195 hp1 a0001 c0005 t0001 g0005 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03195 hp2 a0007 c0010 t0014 g0266 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03209 hp1 a0001 c0009 t0004 g0022 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03209 hp2 a0001 c0006 t0005 g0049 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03225 hp1 a0005 c0008 t0004 g0050 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03225 hp2 a0001 c0005 t0001 g0279 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03239 hp1 a0003 c0003 t0001 g0214 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03239 hp2 a0003 c0003 t0001 g0117 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03486 hp1 a0001 c0005 t0001 g0005 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03486 hp2 a0001 c0005 t0009 g0274 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03490 hp1 a0001 c0001 t0001 g0027 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03490 hp2 a0002 c0002 t0002 g0071 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03491 hp1 a0001 c0005 t0006 g0039 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03491 hp2 a0002 c0002 t0002 g0018 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03492 hp1 a0001 c0005 t0006 g0039 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03492 hp2 a0001 c0001 t0001 g0175 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03516 hp1 a0002 c0002 t0002 g0006 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03516 hp2 a0002 c0002 t0002 g0067 AFR ESN LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03540 hp1 a0008 c0013 t0016 g0043 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03540 hp2 a0001 c0006 t0011 g0045 AFR GWD LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03579 hp1 a0003 c0003 t0001 g0220 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03579 hp2 a0001 c0004 t0012 g0207 AFR MSL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03654 hp1 a0001 c0004 t0003 g0135 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03654 hp2 a0002 c0002 t0002 g0097 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03669 hp1 a0001 c0004 t0003 g0259 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03669 hp2 a0002 c0002 t0002 g0088 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03688 hp1 a0003 c0003 t0001 g0033 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03688 hp2 a0001 c0001 t0023 g0193 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03704 hp1 a0002 c0002 t0002 g0065 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03704 hp2 a0002 c0018 t0002 g0046 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03710 hp1 a0001 c0004 t0008 g0252 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03710 hp2 a0001 c0004 t0003 g0134 SAS PJL LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03831 hp1 a0001 c0005 t0006 g0262 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03831 hp2 a0002 c0021 t0002 g0116 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03834 hp1 a0003 c0003 t0001 g0236 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03834 hp2 a0002 c0002 t0002 g0002 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03927 hp1 a0002 c0002 t0002 g0105 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03927 hp2 a0001 c0001 t0001 g0196 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03942 hp1 a0013 c0019 t0002 g0112 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG03942 hp2 a0001 c0004 t0008 g0255 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04115 hp1 a0003 c0003 t0001 g0230 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04115 hp2 a0003 c0003 t0001 g0222 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04184 hp1 a0003 c0003 t0001 g0213 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04184 hp2 a0003 c0003 t0001 g0221 SAS BEB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04199 hp1 a0003 c0003 t0001 g0009 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04199 hp2 a0001 c0006 t0008 g0096 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04204 hp1 a0001 c0005 t0006 g0004 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04204 hp2 a0010 c0027 t0006 g0263 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04228 hp1 a0001 c0005 t0006 g0260 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG04228 hp2 a0002 c0002 t0002 g0079 SAS STU LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18522 hp1 a0006 c0011 t0001 g0218 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18522 hp2 a0004 c0007 t0005 g0012 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18612 hp1 a0001 c0001 t0001 g0151 EAS CHB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18612 hp2 a0001 c0001 t0001 g0187 EAS CHB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18906 hp1 a0004 c0007 t0005 g0264 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18906 hp2 a0003 c0003 t0001 g0243 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18943 hp1 a0002 c0002 t0002 g0072 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18943 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18944 hp1 a0002 c0002 t0002 g0002 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18944 hp2 a0003 c0003 t0001 g0223 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18945 hp1 a0003 c0003 t0001 g0034 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18945 hp2 a0001 c0005 t0006 g0004 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18946 hp1 a0002 c0002 t0002 g0265 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18946 hp2 a0001 c0001 t0001 g0031 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18949 hp1 a0001 c0004 t0003 g0238 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18949 hp2 a0001 c0001 t0001 g0155 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18950 hp1 a0001 c0001 t0001 g0177 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18950 hp2 a0001 c0001 t0017 g0182 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18951 hp1 a0002 c0002 t0002 g0110 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18951 hp2 a0001 c0001 t0001 g0159 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18952 hp1 a0001 c0005 t0006 g0004 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18952 hp2 a0001 c0001 t0001 g0031 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18954 hp1 a0003 c0003 t0001 g0035 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18954 hp2 a0001 c0001 t0001 g0027 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18957 hp1 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18957 hp2 a0001 c0004 t0003 g0141 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18959 hp1 a0001 c0001 t0001 g0125 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18959 hp2 a0003 c0003 t0001 g0035 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18960 hp1 a0002 c0002 t0002 g0073 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18960 hp2 a0002 c0002 t0002 g0015 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18962 hp1 a0003 c0003 t0001 g0232 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18962 hp2 a0002 c0002 t0002 g0103 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18964 hp1 a0001 c0001 t0001 g0203 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18964 hp2 a0001 c0001 t0001 g0202 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18965 hp1 a0002 c0002 t0002 g0099 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18965 hp2 a0001 c0005 t0006 g0004 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18966 hp1 a0003 c0003 t0001 g0228 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18966 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18968 hp1 a0001 c0001 t0020 g0201 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18968 hp2 a0002 c0002 t0002 g0019 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18969 hp1 a0001 c0001 t0001 g0166 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18969 hp2 a0002 c0002 t0002 g0002 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18970 hp1 a0014 c0024 t0013 g0101 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18970 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18975 hp1 a0001 c0001 t0001 g0163 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18975 hp2 a0002 c0002 t0002 g0109 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18978 hp1 a0001 c0001 t0001 g0156 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18978 hp2 a0003 c0003 t0001 g0224 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18979 hp1 a0002 c0012 t0002 g0020 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18979 hp2 a0001 c0001 t0001 g0030 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18985 hp1 a0001 c0006 t0001 g0070 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18985 hp2 a0001 c0001 t0001 g0195 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18986 hp1 a0003 c0003 t0001 g0239 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18986 hp2 a0001 c0001 t0001 g0028 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18987 hp1 a0002 c0002 t0002 g0017 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18987 hp2 a0001 c0001 t0001 g0241 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18988 hp1 a0001 c0001 t0001 g0029 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18988 hp2 a0001 c0001 t0001 g0028 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18989 hp1 a0001 c0001 t0001 g0160 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18989 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18991 hp1 a0002 c0002 t0002 g0015 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18991 hp2 a0001 c0001 t0001 g0154 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18994 hp1 a0001 c0004 t0003 g0140 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18994 hp2 a0001 c0001 t0001 g0153 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18998 hp1 a0002 c0002 t0002 g0002 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18998 hp2 a0001 c0001 t0001 g0161 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18999 hp1 a0003 c0003 t0001 g0235 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA18999 hp2 a0002 c0002 t0002 g0002 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19004 hp1 a0001 c0001 t0001 g0198 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19004 hp2 a0001 c0001 t0001 g0030 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19005 hp1 a0002 c0002 t0002 g0118 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19005 hp2 a0001 c0001 t0001 g0158 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19009 hp1 a0002 c0002 t0002 g0119 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19009 hp2 a0001 c0001 t0001 g0157 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19010 hp1 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19010 hp2 a0001 c0001 t0001 g0174 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19012 hp1 a0002 c0002 t0002 g0108 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19012 hp2 a0001 c0001 t0001 g0164 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19030 hp1 a0001 c0006 t0005 g0056 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19030 hp2 a0008 c0013 t0016 g0044 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19043 hp1 a0001 c0006 t0007 g0256 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19043 hp2 a0001 c0005 t0001 g0278 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19056 hp1 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19056 hp2 a0003 c0003 t0027 g0234 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19064 hp1 a0002 c0002 t0002 g0093 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19065 hp1 a0002 c0002 t0002 g0100 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19065 hp2 a0001 c0004 t0003 g0026 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19066 hp1 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19066 hp2 a0002 c0002 t0002 g0014 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19068 hp1 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19068 hp2 a0002 c0012 t0002 g0020 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19070 hp1 a0001 c0004 t0003 g0026 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19070 hp2 a0001 c0001 t0001 g0001 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19072 hp1 a0002 c0002 t0022 g0081 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19072 hp2 a0001 c0001 t0001 g0171 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19074 hp1 a0003 c0003 t0001 g0227 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19074 hp2 a0001 c0001 t0001 g0192 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19078 hp1 a0001 c0001 t0001 g0147 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19078 hp2 a0002 c0002 t0002 g0106 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19079 hp1 a0001 c0001 t0001 g0165 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19079 hp2 a0002 c0002 t0002 g0098 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19080 hp1 a0001 c0001 t0001 g0197 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19080 hp2 a0002 c0002 t0002 g0002 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19081 hp1 a0002 c0002 t0002 g0066 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19081 hp2 a0001 c0001 t0001 g0181 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19082 hp1 a0001 c0001 t0001 g0042 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19082 hp2 a0002 c0012 t0002 g0111 EAS JPT LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19240 hp1 a0001 c0006 t0007 g0038 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA19240 hp2 a0004 c0007 t0005 g0051 AFR YRI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20129 hp1 a0001 c0004 t0003 g0003 AFR ASW LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20129 hp2 a0004 c0007 t0005 g0054 AFR ASW LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20752 hp1 a0002 c0002 t0002 g0013 EUR TSI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20752 hp2 a0005 c0008 t0004 g0057 EUR TSI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20805 hp1 a0002 c0002 t0002 g0091 EUR TSI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20805 hp2 a0001 c0006 t0010 g0120 EUR TSI LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20905 hp1 a0003 c0003 t0018 g0041 SAS GIH LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20905 hp2 a0002 c0025 t0002 g0102 SAS GIH LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01123 hp1 a0003 c0003 t0001 g0237 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG01123 hp2 a0002 c0002 t0002 g0018 AMR CLM LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02486 hp1 a0003 c0003 t0001 g0037 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02486 hp2 a0001 c0005 t0001 g0270 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02559 hp1 a0001 c0009 t0004 g0023 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG02559 hp2 a0002 c0002 t0002 g0006 AFR ACB LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG06807 hp1 a0001 c0001 t0001 g0240 AFR USA LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
HG06807 hp2 a0001 c0005 t0001 g0040 AFR USA LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20300 hp1 a0003 c0003 t0015 g0231 AFR USA LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA20300 hp2 a0001 c0004 t0003 g0130 AFR USA LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA21309 hp1 a0001 c0001 t0001 g0200 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
NA21309 hp2 a0003 c0003 t0001 g0037 AFR LWK LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
homoSapiens_chm13v2 hp1 a0001 c0004 t0003 g0003 REF REF LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774
homoSapiens_grch38 hp1 a0002 c0002 t0002 g0204 REF REF LSS_chr21_46183446_46233774 LSS chr21 46183446 46233774

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
chr21:46191885 G
G
 A
A
 1 a0011
a0011
 1 HG01516.hp1
HG01516.hp1
 missense_variant MODERATE c.2063C>T
c.2063C>T
 p.Pro688Leu
p.Pro688Leu
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/22 2092/4886 2063/2199 688/732 chr21 46191885
chr21:46194555 A
A
 C
C
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0005
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0015
a0016
 270 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1924T>G
c.1924T>G
 p.Leu642Val
p.Leu642Val
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/22 1953/4886 1924/2199 642/732 chr21 46194555
chr21:46194614 C
C
 T
T
 1 a0004
a0004
 11 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(8): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20129.hp2
 missense_variant MODERATE c.1865G>A
c.1865G>A
 p.Arg622Gln
p.Arg622Gln
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/22 1894/4886 1865/2199 622/732 chr21 46194614
chr21:46194615 G
G
 A
A
 1 a0012
a0012
 1 HG02004.hp1
HG02004.hp1
 missense_variant MODERATE c.1864C>T
c.1864C>T
 p.Arg622Trp
p.Arg622Trp
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/22 1893/4886 1864/2199 622/732 chr21 46194615
chr21:46194639 G
G
 A
A
 1 a0005
a0005
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 missense_variant MODERATE c.1840C>T
c.1840C>T
 p.Arg614Trp
p.Arg614Trp
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/22 1869/4886 1840/2199 614/732 chr21 46194639
chr21:46213042 C
C
 T
T
 1 a0013
a0013
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.1120G>A
c.1120G>A
 p.Asp374Asn
p.Asp374Asn
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/22 1149/4886 1120/2199 374/732 chr21 46213042
chr21:46215262 T
T
 C
C
 2 a0003
a0008
a0003
a0008
 47 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(44): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 missense_variant MODERATE c.929A>G
c.929A>G
 p.His310Arg
p.His310Arg
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/22 958/4886 929/2199 310/732 chr21 46215262
chr21:46215298 G
G
 A
A
 1 a0014
a0014
 1 NA18970.hp1
NA18970.hp1
 missense_variant&splice_region_variant MODERATE c.893C>T
c.893C>T
 p.Ala298Val
p.Ala298Val
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/22 922/4886 893/2199 298/732 chr21 46215298
chr21:46215772 C
C
 T
T
 1 a0015
a0015
 1 HG03041.hp2
HG03041.hp2
 missense_variant MODERATE c.805G>A
c.805G>A
 p.Ala269Thr
p.Ala269Thr
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/22 834/4886 805/2199 269/732 chr21 46215772
chr21:46216413 G
G
 T
T
 1 a0009
a0009
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 missense_variant MODERATE c.759C>A
c.759C>A
 p.Asp253Glu
p.Asp253Glu
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/22 788/4886 759/2199 253/732 chr21 46216413
chr21:46216414 T
T
 C
C
 1 a0016
a0016
 1 HG02083.hp2
HG02083.hp2
 missense_variant MODERATE c.758A>G
c.758A>G
 p.Asp253Gly
p.Asp253Gly
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/22 787/4886 758/2199 253/732 chr21 46216414
chr21:46216420 G
G
 A
A
 1 a0007
a0007
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 missense_variant MODERATE c.752C>T
c.752C>T
 p.Ala251Val
p.Ala251Val
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/22 781/4886 752/2199 251/732 chr21 46216420
chr21:46221880 C
C
 T
T
 3 a0003
a0006
a0008
a0003
a0006
a0008
 50 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(47): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 missense_variant MODERATE c.524G>A
c.524G>A
 p.Arg175Gln
p.Arg175Gln
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/22 553/4886 524/2199 175/732 chr21 46221880
chr21:46222711 C
C
 A
A
 1 a0010
a0010
 1 HG04204.hp2
HG04204.hp2
 missense_variant MODERATE c.347G>T
c.347G>T
 p.Arg116Leu
p.Arg116Leu
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/22 376/4886 347/2199 116/732 chr21 46222711
chr21:46228522 C
C
 T
T
 1 a0008
a0008
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 missense_variant MODERATE c.92G>A
c.92G>A
 p.Arg31Lys
p.Arg31Lys
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/22 121/4886 92/2199 31/732 chr21 46228522

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
chr21:46191188 C
C
 T
T
 1 a0002c0021
a0002c0021
 1 HG03831.hp2
HG03831.hp2
 synonymous_variant LOW c.2115G>A
c.2115G>A
 p.Thr705Thr
p.Thr705Thr
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 2144/4886 2115/2199 705/732 chr21 46191188
chr21:46194529 A
A
 G
G
 12 a0001c0001
a0001c0005
a0001c0009
others(9): Show 
a0001c0001
a0001c0005
a0001c0009
a0001c0015
a0005c0008
a0008c0013
a0009c0014
a0010c0027
a0011c0020
a0012c0022
a0015c0017
a0016c0026
 148 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(145): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp1
HG01175.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20752.hp2
NA21309.hp1
 synonymous_variant LOW c.1950T>C
c.1950T>C
 p.His650His
p.His650His
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/22 1979/4886 1950/2199 650/732 chr21 46194529
chr21:46195705 G
G
 A
A
 1 a0001c0015
a0001c0015
 2 HG02280.hp1
HG02818.hp2
HG02280.hp1
HG02818.hp2
 synonymous_variant LOW c.1788C>T
c.1788C>T
 p.Phe596Phe
p.Phe596Phe
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/22 1817/4886 1788/2199 596/732 chr21 46195705
chr21:46206688 G
G
 A
A
 1 a0002c0023
a0002c0023
 1 HG00639.hp1
HG00639.hp1
 synonymous_variant LOW c.1548C>T
c.1548C>T
 p.Asn516Asn
p.Asn516Asn
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/22 1577/4886 1548/2199 516/732 chr21 46206688
chr21:46207515 G
G
 A
A
 1 a0002c0016
a0002c0016
 2 HG02015.hp2
HG02080.hp1
HG02015.hp2
HG02080.hp1
 synonymous_variant LOW c.1380C>T
c.1380C>T
 p.Ala460Ala
p.Ala460Ala
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/22 1409/4886 1380/2199 460/732 chr21 46207515
chr21:46215713 C
C
 G
G
 9 a0001c0004
a0001c0005
a0001c0009
others(6): Show 
a0001c0004
a0001c0005
a0001c0009
a0002c0018
a0003c0003
a0008c0013
a0009c0014
a0010c0027
a0015c0017
 127 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(124): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp2
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02129.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18994.hp1
NA18999.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.864G>C
c.864G>C
 p.Pro288Pro
p.Pro288Pro
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/22 893/4886 864/2199 288/732 chr21 46215713
chr21:46215731 G
G
 A
A
 2 a0001c0009
a0009c0014
a0001c0009
a0009c0014
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 synonymous_variant LOW c.846C>T
c.846C>T
 p.Pro282Pro
p.Pro282Pro
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/22 875/4886 846/2199 282/732 chr21 46215731
chr21:46215788 G
G
 C
C
 1 a0002c0025
a0002c0025
 1 NA20905.hp2
NA20905.hp2
 synonymous_variant LOW c.789C>G
c.789C>G
 p.Leu263Leu
p.Leu263Leu
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/22 818/4886 789/2199 263/732 chr21 46215788
chr21:46222695 G
G
 A
A
 4 a0002c0012
a0003c0003
a0006c0011
others(1): Show 
a0002c0012
a0003c0003
a0006c0011
a0008c0013
 53 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(50): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19068.hp2
NA19074.hp1
NA19082.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp2
 synonymous_variant LOW c.363C>T
c.363C>T
 p.Ala121Ala
p.Ala121Ala
 LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/22 392/4886 363/2199 121/732 chr21 46222695

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
chr21:46188511 A
A
 G
G
 1 a0001c0015t0025
a0001c0015t0025
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*2593T>C
c.*2593T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 2593 chr21 46188511
chr21:46188666 G
G
 A
A
 29 a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
others(26): Show 
a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
a0001c0001t0023
a0001c0001t0028
a0001c0004t0003
a0001c0004t0012
a0001c0004t0026
a0001c0005t0001
a0001c0005t0006
a0001c0005t0009
a0001c0005t0024
a0001c0006t0001
a0001c0009t0004
a0001c0015t0001
a0001c0015t0025
a0003c0003t0001
a0003c0003t0015
a0003c0003t0018
a0003c0003t0027
a0005c0008t0004
a0006c0011t0001
a0008c0013t0016
a0009c0014t0004
a0010c0027t0006
a0011c0020t0001
a0012c0022t0001
a0015c0017t0009
a0016c0026t0001
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2438C>T
c.*2438C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 2438 chr21 46188666
chr21:46188796 C
C
 T
T
 3 a0001c0009t0004
a0005c0008t0004
a0009c0014t0004
a0001c0009t0004
a0005c0008t0004
a0009c0014t0004
 18 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(15): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
HG03225.hp1
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*2308G>A
c.*2308G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 2308 chr21 46188796
chr21:46188963 C
C
 A
A
 2 a0001c0004t0003
a0001c0004t0026
a0001c0004t0003
a0001c0004t0026
 29 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(26): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2141G>T
c.*2141G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 2141 chr21 46188963
chr21:46189274 C
C
 G
G
 1 a0001c0005t0024
a0001c0005t0024
 1 HG01978.hp1
HG01978.hp1
 3_prime_UTR_variant MODIFIER c.*1830G>C
c.*1830G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1830 chr21 46189274
chr21:46189327 C
C
 T
T
 1 a0003c0003t0015
a0003c0003t0015
 2 HG02148.hp2
NA20300.hp1
HG02148.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*1777G>A
c.*1777G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1777 chr21 46189327
chr21:46189332 G
G
 C
C
 1 a0001c0004t0012
a0001c0004t0012
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*1772C>G
c.*1772C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1772 chr21 46189332
chr21:46189344 G
G
 A
A
 1 a0008c0013t0016
a0008c0013t0016
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*1760C>T
c.*1760C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1760 chr21 46189344
chr21:46189415 G
G
 A
A
 1 a0002c0002t0022
a0002c0002t0022
 1 NA19072.hp1
NA19072.hp1
 3_prime_UTR_variant MODIFIER c.*1689C>T
c.*1689C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1689 chr21 46189415
chr21:46189459 T
T
 A
A
 2 a0001c0005t0009
a0015c0017t0009
a0001c0005t0009
a0015c0017t0009
 5 HG02258.hp1
HG02572.hp2
HG02895.hp2
others(2): Show 
HG02258.hp1
HG02572.hp2
HG02895.hp2
HG03041.hp2
HG03486.hp2
 3_prime_UTR_variant MODIFIER c.*1645A>T
c.*1645A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1645 chr21 46189459
chr21:46189596 T
T
 C
C
 40 a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
others(37): Show 
a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
a0001c0001t0023
a0001c0001t0028
a0001c0004t0003
a0001c0004t0007
a0001c0004t0008
a0001c0004t0011
a0001c0004t0012
a0001c0004t0019
a0001c0004t0026
a0001c0005t0001
a0001c0005t0006
a0001c0005t0009
a0001c0005t0024
a0001c0006t0001
a0001c0006t0005
a0001c0006t0007
a0001c0006t0008
a0001c0006t0010
a0001c0006t0011
a0001c0009t0004
a0001c0015t0001
a0001c0015t0025
a0003c0003t0001
a0003c0003t0015
a0003c0003t0018
a0003c0003t0027
a0004c0007t0005
a0005c0008t0004
a0006c0011t0001
a0007c0010t0014
a0008c0013t0016
a0009c0014t0004
a0010c0027t0006
a0011c0020t0001
a0012c0022t0001
a0015c0017t0009
a0016c0026t0001
 270 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1508A>G
c.*1508A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1508 chr21 46189596
chr21:46189642 A
A
 G
G
 1 a0002c0002t0021
a0002c0002t0021
 1 HG03017.hp2
HG03017.hp2
 3_prime_UTR_variant MODIFIER c.*1462T>C
c.*1462T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1462 chr21 46189642
chr21:46189664 A
A
 G
G
 1 a0001c0001t0023
a0001c0001t0023
 1 HG03688.hp2
HG03688.hp2
 3_prime_UTR_variant MODIFIER c.*1440T>C
c.*1440T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1440 chr21 46189664
chr21:46189741 G
G
 A
A
 3 a0001c0004t0008
a0001c0004t0019
a0001c0006t0008
a0001c0004t0008
a0001c0004t0019
a0001c0006t0008
 8 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(5): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG02055.hp1
HG02970.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*1363C>T
c.*1363C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1363 chr21 46189741
chr21:46189763 A
A
 G
G
 31 a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
others(28): Show 
a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
a0001c0001t0023
a0001c0001t0028
a0001c0004t0003
a0001c0004t0012
a0001c0004t0026
a0001c0005t0001
a0001c0005t0006
a0001c0005t0009
a0001c0005t0024
a0001c0006t0001
a0001c0006t0010
a0001c0009t0004
a0001c0015t0001
a0001c0015t0025
a0003c0003t0001
a0003c0003t0015
a0003c0003t0018
a0003c0003t0027
a0005c0008t0004
a0006c0011t0001
a0007c0010t0014
a0008c0013t0016
a0009c0014t0004
a0010c0027t0006
a0011c0020t0001
a0012c0022t0001
a0015c0017t0009
a0016c0026t0001
 237 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1341T>C
c.*1341T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1341 chr21 46189763
chr21:46189817 T
T
 C
C
 1 a0001c0004t0026
a0001c0004t0026
 1 HG01243.hp1
HG01243.hp1
 3_prime_UTR_variant MODIFIER c.*1287A>G
c.*1287A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1287 chr21 46189817
chr21:46189828 AGTAGCCA
others(1123): Show 
AGTAGCCAGGGGAGAGCAGTGACAGTCTCAGGTGGCCCTGAGCATGTGAG
CTGCTCATCCACATCAGGCAAAGGCAAAGCCAGGACCTGAACTTCCCACC
CCAAGCCCTACATCCATGCAAGCCAGACCAGACTGGGTCAGAGGCTAGAA
GGGAGCTCACAGGATTGCCTGGGGAAGCCTCGGCCCAAAACCTGGCCCTC
GCTCCAGCCCAGAGCACCCACCTGGGCATGAGACTGGCGGCAGCCGTAGG
GGTGCCCTGGGTATATGCCGGGCTCCCAGGGTGCCATACCTGCCAGCCAG
CCCAGGGAGTGGTGATGGGCTGGGTGCTGGCTGTCCCTGCACATAGCAGT
GCCCCGCGGCAGTAACTACAACTGCTGCCTGCCCCTCACCCCTGGTTATG
CTCGGCCTCCCCTGTGCATTTCTGTGTCCGTAAGTGTCCCCTGTGCATTT
CTGTGTCCACAAGACTACTATAAACCCTGTAGACACCTCACAAACAGCAT
TCCACGCAGGTGGGTTCATGTCCCAGGGGCATGGGGCTCCCTGCTGCACA
GACTTGGGATGTTCCATGACAGACCCTGCATATGCAGGCGAGCTCACAAC
CCAGGGGTATGCGGCTCCATGACACCACCCCATACTCAGGCGAGCTCACG
ACCCAGGGGCATGAGGCTCCATGACACCACCCCATACGCAGGCAAGCTCA
CGACCCAGGGGCATGGGGCTCCCTGCTGCACGGCCTCAGGATGCTCCATG
AGCAACCCCCGCACTGGGCTATTCACGGATGCACACTACCTGCCATTGTC
ACAGGGTTGCCCTCGTGTCCCTCAGCCCAGCAGACAAAAGGTGCAGGAGA
AGCCTGCCCAGGGCCGACCCCAGCCCAGAGCCCACTCGACACTAAGGAAT
CACACAGGCACAGCTGCTCCTCTCCCAAGAACTCAGCTATTGGTCAGAAA
AAACCTCCTAGCCTCACTACCTTGAGGCCGTGCCCAGAGGTGGCAGAAGG
CGCTGTGCCTCCTCAGGGGTCACGGCTCCTGTGCCCCCTTCCTCACCCAA
GCCCGACAAGCTACTTTCAGAAATGAACCTACAGTAAAAATCAAGAGTCT
AAGCCACCCACCCTGTCCCCATCCCTGCCTC
 A
A
 2 a0001c0006t0005
a0004c0007t0005
a0001c0006t0005
a0004c0007t0005
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*146_*1275del
c.*146_*1275del
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 146 chr21 46189828
chr21:46189975 G
G
 A
A
 1 a0003c0003t0027
a0003c0003t0027
 1 NA19056.hp2
NA19056.hp2
 3_prime_UTR_variant MODIFIER c.*1129C>T
c.*1129C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1129 chr21 46189975
chr21:46190060 A
A
 G
G
 2 a0002c0002t0013
a0014c0024t0013
a0002c0002t0013
a0014c0024t0013
 3 HG00558.hp2
HG02132.hp2
NA18970.hp1
HG00558.hp2
HG02132.hp2
NA18970.hp1
 3_prime_UTR_variant MODIFIER c.*1044T>C
c.*1044T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 1044 chr21 46190060
chr21:46190138 G
G
 C
C
 1 a0001c0004t0019
a0001c0004t0019
 1 HG01515.hp2
HG01515.hp2
 3_prime_UTR_variant MODIFIER c.*966C>G
c.*966C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 966 chr21 46190138
chr21:46190152 T
T
 C
C
 30 a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
others(27): Show 
a0001c0001t0001
a0001c0001t0017
a0001c0001t0020
a0001c0001t0023
a0001c0001t0028
a0001c0004t0003
a0001c0004t0012
a0001c0004t0026
a0001c0005t0001
a0001c0005t0006
a0001c0005t0009
a0001c0005t0024
a0001c0006t0001
a0001c0006t0010
a0001c0009t0004
a0001c0015t0001
a0001c0015t0025
a0003c0003t0001
a0003c0003t0015
a0003c0003t0018
a0003c0003t0027
a0005c0008t0004
a0006c0011t0001
a0008c0013t0016
a0009c0014t0004
a0010c0027t0006
a0011c0020t0001
a0012c0022t0001
a0015c0017t0009
a0016c0026t0001
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*952A>G
c.*952A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 952 chr21 46190152
chr21:46190271 T
T
 A
A
 1 a0007c0010t0014
a0007c0010t0014
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 3_prime_UTR_variant MODIFIER c.*833A>T
c.*833A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 833 chr21 46190271
chr21:46190355 G
G
 GGCATGGG
others(7): Show 
GGCATGGGGCTCCCT
 1 a0001c0006t0010
a0001c0006t0010
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*735_*748dupAGGGAG
others(8): Show 
c.*735_*748dupAGGGAGCCCCATGC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 748 chr21 46190355
chr21:46190604 G
G
 A
A
 1 a0001c0001t0017
a0001c0001t0017
 2 HG01496.hp1
NA18950.hp2
HG01496.hp1
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*500C>T
c.*500C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 500 chr21 46190604
chr21:46190807 G
G
 A
A
 1 a0001c0001t0028
a0001c0001t0028
 1 HG01975.hp2
HG01975.hp2
 3_prime_UTR_variant MODIFIER c.*297C>T
c.*297C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 297 chr21 46190807
chr21:46190851 G
G
 A
A
 1 a0002c0002t0029
a0002c0002t0029
 1 HG02040.hp1
HG02040.hp1
 3_prime_UTR_variant MODIFIER c.*253C>T
c.*253C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 253 chr21 46190851
chr21:46190960 A
A
 T
T
 2 a0001c0006t0005
a0004c0007t0005
a0001c0006t0005
a0004c0007t0005
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*144T>A
c.*144T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 144 chr21 46190960
chr21:46190961 G
G
 T
T
 2 a0001c0006t0005
a0004c0007t0005
a0001c0006t0005
a0004c0007t0005
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*143C>A
c.*143C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 143 chr21 46190961
chr21:46190962 C
C
 T
T
 2 a0001c0006t0005
a0004c0007t0005
a0001c0006t0005
a0004c0007t0005
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*142G>A
c.*142G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 142 chr21 46190962
chr21:46191025 TG
TG
 T
T
 6 a0001c0001t0020
a0001c0004t0007
a0001c0004t0008
others(3): Show 
a0001c0001t0020
a0001c0004t0007
a0001c0004t0008
a0001c0004t0019
a0001c0006t0007
a0001c0006t0008
 17 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(14): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA18968.hp1
NA19043.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*78delC
c.*78delC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 78 chr21 46191025
chr21:46191071 C
C
 T
T
 2 a0001c0005t0006
a0010c0027t0006
a0001c0005t0006
a0010c0027t0006
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 3_prime_UTR_variant MODIFIER c.*33G>A
c.*33G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 22/22 33 chr21 46191071
chr21:46228755 A
A
 T
T
 1 a0003c0003t0018
a0003c0003t0018
 1 NA20905.hp1
NA20905.hp1
 5_prime_UTR_variant MODIFIER c.-10T>A
c.-10T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 1/22 10 chr21 46228755

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
chr21:46191371 T
T
 C
C
 24 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
others(21): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
 30 HG00099.hp1
HG01069.hp1
HG01071.hp1
others(27): Show 
HG00099.hp1
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01261.hp1
HG01361.hp1
HG01891.hp2
HG01981.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp2
NA19030.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.2068-136A>G
c.2068-136A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/21 chr21 46191371
chr21:46191396 A
A
 G
G
 179 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(176): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0011g0244
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 232 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(229): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2068-161T>C
c.2068-161T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/21 chr21 46191396
chr21:46191444 A
A
 G
G
 26 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(23): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
 33 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(30): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02055.hp2
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2068-209T>C
c.2068-209T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/21 chr21 46191444
chr21:46191508 C
C
 T
T
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.2068-273G>A
c.2068-273G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/21 chr21 46191508
chr21:46191631 G
G
 A
A
 5 a0002c0002t0002g0016
a0002c0002t0002g0087
a0007c0010t0014g0266
others(2): Show 
a0002c0002t0002g0016
a0002c0002t0002g0087
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 6 HG01167.hp1
HG01175.hp1
HG01346.hp2
others(3): Show 
HG01167.hp1
HG01175.hp1
HG01346.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.2067+250C>T
c.2067+250C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 21/21 chr21 46191631
chr21:46192161 C
C
 T
T
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1989-202G>A
c.1989-202G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192161
chr21:46192162 G
G
 A
A
 1 a0003c0003t0001g0214
a0003c0003t0001g0214
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1989-203C>T
c.1989-203C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192162
chr21:46192252 A
A
 C
C
 181 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-293T>G
c.1989-293T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192252
chr21:46192510 G
G
 A
A
 12 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(9): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0009c0014t0004g0021
 18 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(15): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01891.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1989-551C>T
c.1989-551C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192510
chr21:46192536 G
G
 A
A
 2 a0008c0013t0016g0043
a0008c0013t0016g0044
a0008c0013t0016g0043
a0008c0013t0016g0044
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.1989-577C>T
c.1989-577C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192536
chr21:46192552 A
A
 G
G
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-593T>C
c.1989-593T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192552
chr21:46192557 T
T
 C
C
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-598A>G
c.1989-598A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192557
chr21:46192570 A
A
 G
G
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1989-611T>C
c.1989-611T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192570
chr21:46192598 C
C
 CTG
CTG
 213 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(210): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 268 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-641_1989-640d
others(4): Show 
c.1989-641_1989-640dupCA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192598
chr21:46192598 C
C
 G
G
 2 a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0127
a0001c0004t0003g0128
 2 HG00323.hp2
HG01109.hp2
HG00323.hp2
HG01109.hp2
 intron_variant MODIFIER c.1989-639G>C
c.1989-639G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192598
chr21:46192614 C
C
 G
G
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1989-655G>C
c.1989-655G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192614
chr21:46192685 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1989-726C>T
c.1989-726C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192685
chr21:46192719 GTGGCACA
others(227): Show 
GTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTG
CCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCA
TGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGC
ATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGT
ATGTGCATCTGTCTCCATGTACGTATGTCTGTGTA
 G
G
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1989-994_1989-761d
others(2): Show 
c.1989-994_1989-761del
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192719
chr21:46192799 T
T
 C
C
 1 a0002c0012t0002g0020
a0002c0012t0002g0020
 2 NA18979.hp1
NA19068.hp2
NA18979.hp1
NA19068.hp2
 intron_variant MODIFIER c.1989-840A>G
c.1989-840A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192799
chr21:46192800 G
G
 A
A
 1 a0002c0025t0002g0102
a0002c0025t0002g0102
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1989-841C>T
c.1989-841C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192800
chr21:46192806 A
A
 G
G
 7 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
others(4): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
 9 HG00099.hp1
HG01361.hp1
HG01981.hp2
others(6): Show 
HG00099.hp1
HG01361.hp1
HG01981.hp2
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG03239.hp1
HG03688.hp1
HG04184.hp1
 intron_variant MODIFIER c.1989-847T>C
c.1989-847T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192806
chr21:46192857 G
G
 A
A
 2 a0001c0006t0011g0045
a0010c0027t0006g0263
a0001c0006t0011g0045
a0010c0027t0006g0263
 2 HG03540.hp2
HG04204.hp2
HG03540.hp2
HG04204.hp2
 intron_variant MODIFIER c.1989-898C>T
c.1989-898C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192857
chr21:46192868 C
C
 T
T
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1989-909G>A
c.1989-909G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192868
chr21:46192869 A
A
 ATG
ATG
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1989-911_1989-910i
others(4): Show 
c.1989-911_1989-910insCA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192869
chr21:46192877 GCACAGGT
others(110): Show 
GCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCAT
CTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGG
TGCATCTGCATGTGTGTA
 G
G
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.1989-1035_1989-919
others(3): Show 
c.1989-1035_1989-919del
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192877
chr21:46192912 G
G
 A
A
 1 a0003c0003t0001g0236
a0003c0003t0001g0236
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1989-953C>T
c.1989-953C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192912
chr21:46192953 A
A
 G
G
 208 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 263 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
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
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-994T>C
c.1989-994T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192953
chr21:46192973 C
C
 T
T
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1989-1014G>A
c.1989-1014G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46192973
chr21:46193027 T
T
 C
C
 1 a0001c0004t0003g0025
a0001c0004t0003g0025
 2 HG00741.hp2
HG01074.hp2
HG00741.hp2
HG01074.hp2
 intron_variant MODIFIER c.1989-1068A>G
c.1989-1068A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193027
chr21:46193072 G
G
 A
A
 1 a0002c0002t0002g0064
a0002c0002t0002g0064
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1989-1113C>T
c.1989-1113C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193072
chr21:46193090 T
T
 C
C
 215 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(212): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 270 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1989-1131A>G
c.1989-1131A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193090
chr21:46193102 C
C
 T
T
 2 a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0057
a0005c0008t0004g0058
 2 HG01099.hp1
NA20752.hp2
HG01099.hp1
NA20752.hp2
 intron_variant MODIFIER c.1989-1143G>A
c.1989-1143G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193102
chr21:46193179 G
G
 A
A
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1989-1220C>T
c.1989-1220C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193179
chr21:46193195 G
G
 C
C
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.1989-1236C>G
c.1989-1236C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193195
chr21:46193213 T
T
 C
C
 4 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(1): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
 4 HG01109.hp1
HG02615.hp1
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.1989-1254A>G
c.1989-1254A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193213
chr21:46193231 T
T
 C
C
 1 a0003c0003t0001g0211
a0003c0003t0001g0211
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1988+1260A>G
c.1988+1260A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193231
chr21:46193246 G
G
 GTGTA
GTGTA
 74 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0006t0001g0070
a0001c0015t0001g0124
a0001c0015t0025g0183
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 98 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(95): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01099.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.1988+1244_1988+124
others(8): Show 
c.1988+1244_1988+1245insTACA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193246
chr21:46193247 C
C
 CGTAT
CGTAT
 100 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(97): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0015c0017t0009g0271
 127 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(124): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02129.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18994.hp1
NA18999.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1240_1988+124
others(8): Show 
c.1988+1240_1988+1243dupATAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193247
chr21:46193247 C
C
 T
T
 74 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0006t0001g0070
a0001c0015t0001g0124
a0001c0015t0025g0183
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 98 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(95): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01099.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.1988+1244G>A
c.1988+1244G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193247
chr21:46193276 A
A
 ATCTGTCT
others(13): Show 
ATCTGTCTCCATGTACCTACG
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1988+1214_1988+121
others(24): Show 
c.1988+1214_1988+1215insCGTAGGTACATGGAGACAGA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193276
chr21:46193278 G
G
 C
C
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1213C>G
c.1988+1213C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193278
chr21:46193307 T
T
 G
G
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1184A>C
c.1988+1184A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193307
chr21:46193317 C
C
 G
G
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1174G>C
c.1988+1174G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193317
chr21:46193333 C
C
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1988+1158G>A
c.1988+1158G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193333
chr21:46193337 A
A
 ATGTGTGT
others(114): Show 
ATGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGAC
CTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATG
GTATGCTGTGGGTGTATCTGCG
 1 a0002c0002t0002g0083
a0002c0002t0002g0083
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1988+1153_1988+115
others(125): Show 
c.1988+1153_1988+1154insCGCAGATACACCCACAGCATACCATC
TGTGCCACACACAGACGTAGGTACATGGAGACAGATGCACACACAGGTCT
GTGCACACACATACATACGCATGCACAGGCACCTGTGTACACACA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193337
chr21:46193341 G
G
 A
A
 1 a0001c0009t0004g0126
a0001c0009t0004g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1988+1150C>T
c.1988+1150C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193341
chr21:46193350 C
C
 G
G
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1141G>C
c.1988+1141G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193350
chr21:46193371 ATG
ATG
 A
A
 25 a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
others(22): Show 
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 29 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(26): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1988+1118_1988+111
others(6): Show 
c.1988+1118_1988+1119delCA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193371
chr21:46193387 A
A
 C
C
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1104T>G
c.1988+1104T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193387
chr21:46193428 T
T
 G
G
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1988+1063A>C
c.1988+1063A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193428
chr21:46193609 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1988+882C>T
c.1988+882C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193609
chr21:46193725 CGTAT
CGTAT
 C
C
 2 a0001c0006t0005g0049
a0005c0008t0004g0011
a0001c0006t0005g0049
a0005c0008t0004g0011
 3 HG01069.hp1
HG01071.hp1
HG03209.hp2
HG01069.hp1
HG01071.hp1
HG03209.hp2
 intron_variant MODIFIER c.1988+762_1988+765d
others(6): Show 
c.1988+762_1988+765delATAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193725
chr21:46193733 TGTGTGTG
others(112): Show 
TGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTG
TGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACAC
AGGTGCCTGTGCATGCATAC
 T
T
 1 a0016c0026t0001g0199
a0016c0026t0001g0199
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1988+639_1988+757d
others(2): Show 
c.1988+639_1988+757del
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193733
chr21:46193799 G
G
 A
A
 2 a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0197
a0001c0001t0001g0198
 2 NA19004.hp1
NA19080.hp1
NA19004.hp1
NA19080.hp1
 intron_variant MODIFIER c.1988+692C>T
c.1988+692C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193799
chr21:46193835 G
G
 A
A
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1988+656C>T
c.1988+656C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193835
chr21:46193859 G
G
 A
A
 1 a0003c0003t0027g0234
a0003c0003t0027g0234
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.1988+632C>T
c.1988+632C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193859
chr21:46193922 C
C
 T
T
 2 a0008c0013t0016g0043
a0008c0013t0016g0044
a0008c0013t0016g0043
a0008c0013t0016g0044
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.1988+569G>A
c.1988+569G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193922
chr21:46193931 C
C
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1988+560G>A
c.1988+560G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193931
chr21:46193937 T
T
 C
C
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1988+554A>G
c.1988+554A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193937
chr21:46193945 TGG
TGG
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1988+544_1988+545d
others(4): Show 
c.1988+544_1988+545delCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193945
chr21:46193961 TGTGG
TGTGG
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1988+526_1988+529d
others(6): Show 
c.1988+526_1988+529delCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46193961
chr21:46194191 C
C
 G
G
 1 a0001c0005t0001g0282
a0001c0005t0001g0282
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1988+300G>C
c.1988+300G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194191
chr21:46194255 T
T
 C
C
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1988+236A>G
c.1988+236A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194255
chr21:46194280 T
T
 G
G
 8 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
others(5): Show 
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
 10 HG01167.hp2
HG02486.hp1
HG02622.hp1
others(7): Show 
HG01167.hp2
HG02486.hp1
HG02622.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.1988+211A>C
c.1988+211A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194280
chr21:46194377 G
G
 C
C
 3 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
 3 HG01109.hp1
HG02615.hp1
HG03139.hp1
HG01109.hp1
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.1988+114C>G
c.1988+114C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194377
chr21:46194457 A
A
 C
C
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1988+34T>G
c.1988+34T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194457
chr21:46194460 C
C
 A
A
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1988+31G>T
c.1988+31G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194460
chr21:46194462 A
A
 G
G
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1988+29T>C
c.1988+29T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194462
chr21:46194483 G
G
 A
A
 1 a0002c0002t0013g0085
a0002c0002t0013g0085
 1 HG00558.hp2
HG00558.hp2
 splice_region_variant&intron_variant LOW c.1988+8C>T
c.1988+8C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 20/21 chr21 46194483
chr21:46194695 C
C
 G
G
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.1818-34G>C
c.1818-34G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194695
chr21:46194721 T
T
 C
C
 10 a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0129
others(7): Show 
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0129
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0196
a0001c0001t0001g0203
a0001c0001t0001g0205
 12 HG00423.hp1
HG02040.hp2
HG02135.hp1
others(9): Show 
HG00423.hp1
HG02040.hp2
HG02135.hp1
HG02155.hp1
HG03927.hp2
NA18612.hp1
NA18946.hp2
NA18952.hp2
NA18964.hp1
NA18969.hp1
NA18979.hp2
NA19004.hp2
 intron_variant MODIFIER c.1818-60A>G
c.1818-60A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194721
chr21:46194746 G
G
 T
T
 73 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0015t0001g0124
a0001c0015t0025g0183
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 97 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(94): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01099.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.1818-85C>A
c.1818-85C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194746
chr21:46194812 A
A
 C
C
 1 a0001c0004t0019g0251
a0001c0004t0019g0251
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1818-151T>G
c.1818-151T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194812
chr21:46194909 C
C
 T
T
 2 a0001c0004t0011g0244
a0001c0004t0011g0246
a0001c0004t0011g0244
a0001c0004t0011g0246
 2 HG01109.hp1
HG02615.hp1
HG01109.hp1
HG02615.hp1
 intron_variant MODIFIER c.1818-248G>A
c.1818-248G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194909
chr21:46194948 G
G
 A
A
 1 a0002c0002t0002g0073
a0002c0002t0002g0073
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.1818-287C>T
c.1818-287C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194948
chr21:46194954 T
T
 C
C
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1818-293A>G
c.1818-293A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194954
chr21:46194955 C
C
 G
G
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1818-294G>C
c.1818-294G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46194955
chr21:46195057 A
A
 G
G
 2 a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0132
a0001c0004t0003g0133
 2 HG00597.hp2
HG02523.hp1
HG00597.hp2
HG02523.hp1
 intron_variant MODIFIER c.1818-396T>C
c.1818-396T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195057
chr21:46195061 C
C
 T
T
 73 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0015t0001g0124
a0001c0015t0025g0183
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 97 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(94): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01099.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.1818-400G>A
c.1818-400G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195061
chr21:46195124 G
G
 A
A
 1 a0003c0003t0001g0237
a0003c0003t0001g0237
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.1818-463C>T
c.1818-463C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195124
chr21:46195179 C
C
 T
T
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1817+497G>A
c.1817+497G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195179
chr21:46195193 G
G
 A
A
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1817+483C>T
c.1817+483C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195193
chr21:46195350 G
G
 T
T
 2 a0001c0004t0003g0130
a0001c0004t0003g0144
a0001c0004t0003g0130
a0001c0004t0003g0144
 2 HG02922.hp2
NA20300.hp2
HG02922.hp2
NA20300.hp2
 intron_variant MODIFIER c.1817+326C>A
c.1817+326C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195350
chr21:46195489 G
G
 C
C
 2 a0002c0002t0002g0016
a0002c0002t0002g0087
a0002c0002t0002g0016
a0002c0002t0002g0087
 3 HG01167.hp1
HG01175.hp1
HG01346.hp2
HG01167.hp1
HG01175.hp1
HG01346.hp2
 intron_variant MODIFIER c.1817+187C>G
c.1817+187C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195489
chr21:46195563 AAAAC
AAAAC
 A
A
 81 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 107 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(104): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01099.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02622.hp1
HG02717.hp1
HG02818.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03579.hp1
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1817+109_1817+112d
others(6): Show 
c.1817+109_1817+112delGTTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195563
chr21:46195584 A
A
 C
C
 2 a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0108
a0002c0002t0002g0109
 2 NA18975.hp2
NA19012.hp1
NA18975.hp2
NA19012.hp1
 intron_variant MODIFIER c.1817+92T>G
c.1817+92T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 19/21 chr21 46195584
chr21:46195977 G
G
 A
A
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1737-221C>T
c.1737-221C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46195977
chr21:46196018 C
C
 T
T
 1 a0002c0002t0029g0082
a0002c0002t0029g0082
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1736+184G>A
c.1736+184G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46196018
chr21:46196036 T
T
 C
C
 1 a0001c0005t0006g0262
a0001c0005t0006g0262
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1736+166A>G
c.1736+166A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46196036
chr21:46196046 G
G
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.1736+156C>A
c.1736+156C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46196046
chr21:46196157 G
G
 C
C
 181 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1736+45C>G
c.1736+45C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46196157
chr21:46196166 G
G
 A
A
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1736+36C>T
c.1736+36C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 18/21 chr21 46196166
chr21:46196296 T
T
 C
C
 1 a0001c0004t0019g0251
a0001c0004t0019g0251
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1671-29A>G
c.1671-29A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196296
chr21:46196308 A
A
 T
T
 1 a0001c0006t0008g0249
a0001c0006t0008g0249
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1671-41T>A
c.1671-41T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196308
chr21:46196411 A
A
 C
C
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1671-144T>G
c.1671-144T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196411
chr21:46196412 G
G
 A
A
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1671-145C>T
c.1671-145C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196412
chr21:46196415 T
T
 G
G
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1671-148A>C
c.1671-148A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196415
chr21:46196455 G
G
 A
A
 1 a0001c0006t0011g0045
a0001c0006t0011g0045
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1671-188C>T
c.1671-188C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196455
chr21:46196756 C
C
 T
T
 1 a0001c0006t0005g0049
a0001c0006t0005g0049
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1671-489G>A
c.1671-489G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196756
chr21:46196814 C
C
 T
T
 2 a0004c0007t0005g0264
a0004c0007t0005g0284
a0004c0007t0005g0264
a0004c0007t0005g0284
 2 HG02615.hp2
NA18906.hp1
HG02615.hp2
NA18906.hp1
 intron_variant MODIFIER c.1671-547G>A
c.1671-547G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196814
chr21:46196823 T
T
 G
G
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1671-556A>C
c.1671-556A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196823
chr21:46196824 G
G
 C
C
 1 a0005c0008t0004g0060
a0005c0008t0004g0060
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1671-557C>G
c.1671-557C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196824
chr21:46196901 C
C
 T
T
 2 a0002c0002t0002g0079
a0002c0002t0002g0115
a0002c0002t0002g0079
a0002c0002t0002g0115
 2 HG02738.hp1
HG04228.hp2
HG02738.hp1
HG04228.hp2
 intron_variant MODIFIER c.1671-634G>A
c.1671-634G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196901
chr21:46196904 T
T
 C
C
 184 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 237 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-637A>G
c.1671-637A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196904
chr21:46196915 T
T
 C
C
 2 a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0277
a0001c0005t0001g0278
 2 HG02965.hp1
NA19043.hp2
HG02965.hp1
NA19043.hp2
 intron_variant MODIFIER c.1671-648A>G
c.1671-648A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196915
chr21:46196936 G
G
 A
A
 15 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
others(12): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
 19 HG00099.hp1
HG01167.hp2
HG01361.hp1
others(16): Show 
HG00099.hp1
HG01167.hp2
HG01361.hp1
HG01981.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03579.hp1
HG03688.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.1671-669C>T
c.1671-669C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196936
chr21:46196990 C
C
 T
T
 4 a0002c0002t0002g0088
a0002c0002t0021g0062
a0002c0018t0002g0046
others(1): Show 
a0002c0002t0002g0088
a0002c0002t0021g0062
a0002c0018t0002g0046
a0002c0025t0002g0102
 4 HG03017.hp2
HG03669.hp2
HG03704.hp2
others(1): Show 
HG03017.hp2
HG03669.hp2
HG03704.hp2
NA20905.hp2
 intron_variant MODIFIER c.1671-723G>A
c.1671-723G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196990
chr21:46196991 G
G
 A
A
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1671-724C>T
c.1671-724C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196991
chr21:46196999 G
G
 A
A
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-732C>T
c.1671-732C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46196999
chr21:46197298 T
T
 C
C
 2 a0001c0001t0001g0202
a0001c0006t0001g0070
a0001c0001t0001g0202
a0001c0006t0001g0070
 2 NA18964.hp2
NA18985.hp1
NA18964.hp2
NA18985.hp1
 intron_variant MODIFIER c.1671-1031A>G
c.1671-1031A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197298
chr21:46197423 T
T
 C
C
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.1671-1156A>G
c.1671-1156A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197423
chr21:46197575 T
T
 G
G
 111 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 149 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(146): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp1
HG01175.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.1671-1308A>C
c.1671-1308A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197575
chr21:46197577 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1671-1310G>A
c.1671-1310G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197577
chr21:46197627 G
G
 A
A
 1 a0010c0027t0006g0263
a0010c0027t0006g0263
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1671-1360C>T
c.1671-1360C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197627
chr21:46197806 G
G
 A
A
 1 a0002c0002t0021g0062
a0002c0002t0021g0062
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1671-1539C>T
c.1671-1539C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197806
chr21:46197813 C
C
 T
T
 2 a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0016t0002g0090
a0002c0016t0002g0092
 2 HG02015.hp2
HG02080.hp1
HG02015.hp2
HG02080.hp1
 intron_variant MODIFIER c.1671-1546G>A
c.1671-1546G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197813
chr21:46197890 A
A
 C
C
 10 a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0159
others(7): Show 
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0240
a0001c0015t0001g0124
a0001c0015t0025g0183
 10 HG01243.hp2
HG02280.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG02280.hp1
HG02717.hp1
HG02818.hp2
HG06807.hp1
NA18951.hp2
NA18989.hp1
NA18994.hp2
NA18998.hp2
NA19005.hp2
 intron_variant MODIFIER c.1671-1623T>G
c.1671-1623T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197890
chr21:46197896 A
A
 AC
AC
 5 a0001c0006t0008g0254
a0002c0002t0002g0017
a0002c0002t0002g0105
others(2): Show 
a0001c0006t0008g0254
a0002c0002t0002g0017
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0023t0002g0095
 6 HG00323.hp1
HG00639.hp1
HG02055.hp1
others(3): Show 
HG00323.hp1
HG00639.hp1
HG02055.hp1
HG03927.hp1
NA18987.hp1
NA19078.hp2
 intron_variant MODIFIER c.1671-1630dupG
c.1671-1630dupG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197896
chr21:46197896 A
A
 C
C
 98 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(95): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 118 HG00140.hp1
HG00544.hp2
HG00558.hp2
others(115): Show 
HG00140.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1671-1629T>G
c.1671-1629T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46197896
chr21:46198031 A
A
 G
G
 10 a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0129
others(7): Show 
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0129
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0196
a0001c0001t0001g0203
a0001c0001t0001g0205
 12 HG00423.hp1
HG02040.hp2
HG02135.hp1
others(9): Show 
HG00423.hp1
HG02040.hp2
HG02135.hp1
HG02155.hp1
HG03927.hp2
NA18612.hp1
NA18946.hp2
NA18952.hp2
NA18964.hp1
NA18969.hp1
NA18979.hp2
NA19004.hp2
 intron_variant MODIFIER c.1671-1764T>C
c.1671-1764T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198031
chr21:46198075 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1671-1808C>T
c.1671-1808C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198075
chr21:46198076 G
G
 A
A
 6 a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0152
others(3): Show 
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0196
a0001c0001t0001g0203
 8 HG02155.hp1
HG03927.hp2
NA18946.hp2
others(5): Show 
HG02155.hp1
HG03927.hp2
NA18946.hp2
NA18952.hp2
NA18964.hp1
NA18969.hp1
NA18979.hp2
NA19004.hp2
 intron_variant MODIFIER c.1671-1809C>T
c.1671-1809C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198076
chr21:46198094 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1671-1827G>A
c.1671-1827G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198094
chr21:46198267 TA
TA
 T
T
 184 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0259
a0001c0004t0011g0245
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0265
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0009c0014t0004g0021
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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.hp2
HG02976.hp1
HG02976.hp2
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-2001delT
c.1671-2001delT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198267
chr21:46198289 G
G
 C
C
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1671-2022C>G
c.1671-2022C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198289
chr21:46198407 A
A
 G
G
 1 a0007c0010t0014g0267
a0007c0010t0014g0267
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1671-2140T>C
c.1671-2140T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198407
chr21:46198524 C
C
 T
T
 1 a0001c0004t0011g0245
a0001c0004t0011g0245
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1671-2257G>A
c.1671-2257G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198524
chr21:46198829 C
C
 CA
CA
 98 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(95): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0155
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0006t0001g0070
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0229
a0003c0003t0001g0230
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 131 HG00099.hp1
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00642.hp2
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1671-2563dupT
c.1671-2563dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198829
chr21:46198829 C
C
 CAA
CAA
 31 a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0149
others(28): Show 
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0170
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0186
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0269
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0003c0003t0001g0243
a0015c0017t0009g0271
 35 HG00099.hp2
HG00423.hp2
HG01175.hp2
others(32): Show 
HG00099.hp2
HG00423.hp2
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02148.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03831.hp1
HG06807.hp1
NA18906.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18978.hp1
NA18989.hp1
NA18991.hp2
NA19082.hp1
 intron_variant MODIFIER c.1671-2564_1671-256
others(6): Show 
c.1671-2564_1671-2563dupTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198829
chr21:46198829 C
C
 CAAA
CAAA
 17 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0142
others(14): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0142
a0001c0004t0026g0138
a0001c0005t0001g0040
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 27 HG00140.hp2
HG01069.hp1
HG01070.hp2
others(24): Show 
HG00140.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01168.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02486.hp2
HG02559.hp1
HG02683.hp2
HG02738.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG06807.hp2
NA19043.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-2565_1671-256
others(7): Show 
c.1671-2565_1671-2563dupTTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198829
chr21:46198829 CA
CA
 C
C
 60 a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
others(57): Show 
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0076
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 78 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(75): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01346.hp2
HG01361.hp2
HG01516.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1671-2563delT
c.1671-2563delT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198829
chr21:46198966 G
G
 A
A
 2 a0002c0002t0002g0079
a0002c0002t0002g0115
a0002c0002t0002g0079
a0002c0002t0002g0115
 2 HG02738.hp1
HG04228.hp2
HG02738.hp1
HG04228.hp2
 intron_variant MODIFIER c.1671-2699C>T
c.1671-2699C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46198966
chr21:46199125 G
G
 A
A
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-2858C>T
c.1671-2858C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46199125
chr21:46199386 G
G
 A
A
 177 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 230 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-3119C>T
c.1671-3119C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46199386
chr21:46199419 C
C
 T
T
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1671-3152G>A
c.1671-3152G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46199419
chr21:46199521 A
A
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1671-3254T>A
c.1671-3254T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46199521
chr21:46199870 G
G
 A
A
 181 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-3603C>T
c.1671-3603C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46199870
chr21:46200032 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1671-3765G>A
c.1671-3765G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200032
chr21:46200108 A
A
 C
C
 6 a0001c0001t0001g0029
a0001c0001t0001g0154
a0001c0001t0001g0168
others(3): Show 
a0001c0001t0001g0029
a0001c0001t0001g0154
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0001g0184
a0001c0001t0001g0187
 7 HG00544.hp1
HG02165.hp1
HG02523.hp2
others(4): Show 
HG00544.hp1
HG02165.hp1
HG02523.hp2
NA18612.hp2
NA18988.hp1
NA18991.hp2
NA19010.hp2
 intron_variant MODIFIER c.1671-3841T>G
c.1671-3841T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200108
chr21:46200125 A
A
 G
G
 1 a0001c0006t0007g0247
a0001c0006t0007g0247
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1671-3858T>C
c.1671-3858T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200125
chr21:46200168 G
G
 A
A
 181 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 234 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671-3901C>T
c.1671-3901C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200168
chr21:46200359 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1671-4092C>T
c.1671-4092C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200359
chr21:46200555 G
G
 A
A
 1 a0006c0011t0001g0218
a0006c0011t0001g0218
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1671-4288C>T
c.1671-4288C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200555
chr21:46200564 G
G
 GA
GA
 12 a0001c0004t0007g0145
a0001c0004t0011g0244
a0001c0004t0011g0245
others(9): Show 
a0001c0004t0007g0145
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0011g0045
a0002c0002t0002g0099
 13 HG01074.hp1
HG01109.hp1
HG01884.hp1
others(10): Show 
HG01074.hp1
HG01109.hp1
HG01884.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG03041.hp1
HG03139.hp1
HG03540.hp2
NA18965.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1671-4298dupT
c.1671-4298dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200564
chr21:46200682 G
G
 A
A
 1 a0002c0002t0002g0068
a0002c0002t0002g0068
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1671-4415C>T
c.1671-4415C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200682
chr21:46200734 A
A
 G
G
 1 a0003c0003t0001g0230
a0003c0003t0001g0230
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1671-4467T>C
c.1671-4467T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200734
chr21:46200840 T
T
 C
C
 17 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(14): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0015c0017t0009g0271
 21 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(18): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1671-4573A>G
c.1671-4573A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200840
chr21:46200937 C
C
 T
T
 1 a0011c0020t0001g0173
a0011c0020t0001g0173
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.1671-4670G>A
c.1671-4670G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200937
chr21:46200994 A
A
 AGACAGGT
others(128): Show 
AGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACA
GGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCA
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAG
 1 a0001c0004t0008g0250
a0001c0004t0008g0250
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1671-4728_1671-472
others(139): Show 
c.1671-4728_1671-4727insCTCCCACGTGATCCAGGCTCTACCCT
CAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGG
CTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCA
TGACCTGTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46200994
chr21:46201002 A
A
 C
C
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1671-4735T>G
c.1671-4735T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201002
chr21:46201020 G
G
 A
A
 1 a0005c0008t0004g0048
a0005c0008t0004g0048
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1671-4753C>T
c.1671-4753C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201020
chr21:46201032 T
T
 C
C
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1671-4765A>G
c.1671-4765A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201032
chr21:46201062 G
G
 A
A
 20 a0001c0001t0001g0187
a0001c0001t0001g0272
a0001c0001t0001g0276
others(17): Show 
a0001c0001t0001g0187
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0008c0013t0016g0043
a0008c0013t0016g0044
a0015c0017t0009g0271
 24 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(21): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG06807.hp2
NA18612.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+4774C>T
c.1670+4774C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201062
chr21:46201099 T
T
 C
C
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4737A>G
c.1670+4737A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201099
chr21:46201103 C
C
 G
G
 14 a0001c0004t0007g0145
a0001c0004t0008g0252
a0001c0004t0008g0255
others(11): Show 
a0001c0004t0007g0145
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 15 HG00639.hp2
HG01074.hp1
HG01515.hp2
others(12): Show 
HG00639.hp2
HG01074.hp1
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4733G>C
c.1670+4733G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201103
chr21:46201122 T
T
 C
C
 24 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(21): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0008c0013t0016g0043
a0008c0013t0016g0044
 27 HG00639.hp2
HG01069.hp1
HG01071.hp1
others(24): Show 
HG00639.hp2
HG01069.hp1
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03225.hp1
HG03540.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+4714A>G
c.1670+4714A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201122
chr21:46201132 A
A
 C
C
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4704T>G
c.1670+4704T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201132
chr21:46201133 G
G
 A
A
 15 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(12): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 16 HG00639.hp2
HG01074.hp1
HG01433.hp2
others(13): Show 
HG00639.hp2
HG01074.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4703C>T
c.1670+4703C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201133
chr21:46201148 G
G
 C
C
 3 a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0006t0008g0096
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0006t0008g0096
 3 HG03710.hp1
HG03942.hp2
HG04199.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp2
 intron_variant MODIFIER c.1670+4688C>G
c.1670+4688C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201148
chr21:46201148 G
G
 GAGGGTAC
others(83): Show 
GAGGGTACAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1670+4687_1670+468
others(94): Show 
c.1670+4687_1670+4688insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTGTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201148
chr21:46201148 G
G
 GAGGGTAG
others(83): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 3 a0001c0006t0007g0038
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0038
a0001c0006t0007g0256
a0001c0006t0007g0257
 4 HG02630.hp1
HG02723.hp1
NA19043.hp1
others(1): Show 
HG02630.hp1
HG02723.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4687_1670+468
others(94): Show 
c.1670+4687_1670+4688insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201148
chr21:46201148 G
G
 GAGGGTAG
others(263): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG
AGGACAGGTCATGAAGCCCTC
 1 a0001c0004t0003g0259
a0001c0004t0003g0259
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1670+4687_1670+468
others(274): Show 
c.1670+4687_1670+4688insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTC
AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201148
chr21:46201148 G
G
 GAGGGTAG
others(83): Show 
GAGGGTAGAGCCTGGATCATGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 1 a0001c0005t0009g0273
a0001c0005t0009g0273
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1670+4687_1670+468
others(94): Show 
c.1670+4687_1670+4688insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACATGAT
CCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201148
chr21:46201178 A
A
 G
G
 1 a0001c0004t0012g0207
a0001c0004t0012g0207
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1670+4658T>C
c.1670+4658T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201178
chr21:46201193 G
G
 C
C
 3 a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0006t0008g0096
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0006t0008g0096
 3 HG03710.hp1
HG03942.hp2
HG04199.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp2
 intron_variant MODIFIER c.1670+4643C>G
c.1670+4643C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201193
chr21:46201193 G
G
 GAGGGTAG
others(83): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 67 a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
others(64): Show 
a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0015t0001g0124
a0001c0015t0025g0183
a0011c0020t0001g0173
a0016c0026t0001g0199
 89 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(86): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01975.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp2
HG06807.hp1
NA18612.hp1
NA18943.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.1670+4642_1670+464
others(94): Show 
c.1670+4642_1670+4643insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201193
chr21:46201197 G
G
 A
A
 1 a0001c0004t0008g0250
a0001c0004t0008g0250
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1670+4639C>T
c.1670+4639C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201197
chr21:46201197 G
G
 GTAGAGCC
others(308): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGA
 1 a0003c0003t0001g0228
a0003c0003t0001g0228
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1670+4638_1670+463
others(319): Show 
c.1670+4638_1670+4639insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC
CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA
GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201197
chr21:46201238 G
G
 C
C
 36 a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
others(33): Show 
a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0007g0145
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0003c0003t0001g0211
a0008c0013t0016g0043
a0008c0013t0016g0044
a0012c0022t0001g0188
a0015c0017t0009g0271
 42 HG00099.hp1
HG00639.hp2
HG01074.hp1
others(39): Show 
HG00099.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02055.hp1
HG02148.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18612.hp2
NA18950.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+4598C>G
c.1670+4598C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201238
chr21:46201242 G
G
 A
A
 77 a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
others(74): Show 
a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0006t0007g0038
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0015t0001g0124
a0001c0015t0025g0183
a0010c0027t0006g0263
a0011c0020t0001g0173
a0016c0026t0001g0199
 104 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(101): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01975.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG03139.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1670+4594C>T
c.1670+4594C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201242 G
G
 GTAGAGCC
others(83): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGA
 15 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0007g0145
others(12): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0007g0145
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0015c0017t0009g0271
 18 HG01074.hp1
HG01884.hp2
HG01891.hp1
others(15): Show 
HG01074.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+4593_1670+459
others(94): Show 
c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201242 G
G
 GTAGAGCC
others(218): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCA
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGA
 5 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(2): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0004c0007t0005g0012
a0004c0007t0005g0059
 6 HG01109.hp1
HG02615.hp1
HG02622.hp2
others(3): Show 
HG01109.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG03139.hp1
NA18522.hp2
 intron_variant MODIFIER c.1670+4593_1670+459
others(229): Show 
c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201242 G
G
 GTAGAGCC
others(308): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGA
 5 a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
others(2): Show 
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0267
a0007c0010t0014g0268
 5 HG01167.hp2
HG02280.hp2
HG02886.hp1
others(2): Show 
HG01167.hp2
HG02280.hp2
HG02886.hp1
HG03098.hp1
NA18522.hp1
 intron_variant MODIFIER c.1670+4593_1670+459
others(319): Show 
c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC
CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA
GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201242 G
G
 GTAGAGCC
others(263): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGA
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1670+4593_1670+459
others(274): Show 
c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC
CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201242 G
G
 GTAGAGCC
others(308): Show 
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGA
 1 a0007c0010t0014g0266
a0007c0010t0014g0266
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1670+4593_1670+459
others(319): Show 
c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC
CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA
GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201242
chr21:46201274 T
T
 TGAAGCCC
others(263): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGGT
AGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCAC
 2 a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0012t0002g0020
a0002c0012t0002g0111
 3 NA18979.hp1
NA19068.hp2
NA19082.hp2
NA18979.hp1
NA19068.hp2
NA19082.hp2
 intron_variant MODIFIER c.1670+4561_1670+456
others(274): Show 
c.1670+4561_1670+4562insGTGACCTGTCCTCCCACGTGATCCAG
GCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCT
ATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
GAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTGAGGG
CTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCA
TGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201274
chr21:46201274 T
T
 TGAAGCCC
others(263): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGT
AGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGC
CTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCAC
 6 a0002c0002t0002g0075
a0002c0002t0002g0077
a0002c0002t0002g0078
others(3): Show 
a0002c0002t0002g0075
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0088
a0002c0016t0002g0090
a0002c0016t0002g0092
 6 HG01346.hp1
HG01515.hp1
HG01516.hp2
others(3): Show 
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG02015.hp2
HG02080.hp1
HG03669.hp2
 intron_variant MODIFIER c.1670+4561_1670+456
others(274): Show 
c.1670+4561_1670+4562insGTGACCTGTCCTCCCACGTGATCCAG
GCTCTACCCTCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCT
ATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
CAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTGAGGG
CTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCA
TGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201274
chr21:46201274 T
T
 TGAAGCCC
others(263): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGT
AGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCAC
 50 a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
others(47): Show 
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0073
a0002c0002t0002g0076
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0110
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 64 HG00323.hp1
HG00544.hp2
HG00558.hp2
others(61): Show 
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01167.hp1
HG01175.hp1
HG01346.hp2
HG01361.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18987.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+4561_1670+456
others(274): Show 
c.1670+4561_1670+4562insGTGACCTGTCCTCCCACGTGATCCAG
GCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCT
ATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
CAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTGAGGG
CTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCA
TGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201274
chr21:46201283 G
G
 C
C
 6 a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
a0001c0001t0001g0187
a0001c0001t0001g0189
a0012c0022t0001g0188
 8 HG01099.hp2
HG01496.hp2
HG01952.hp1
others(5): Show 
HG01099.hp2
HG01496.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02148.hp1
NA18612.hp2
NA18950.hp1
 intron_variant MODIFIER c.1670+4553C>G
c.1670+4553C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201283
chr21:46201302 T
T
 C
C
 225 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(222): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0018
a0002c0002t0002g0068
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0097
a0002c0002t0002g0104
a0002c0002t0002g0109
a0002c0002t0002g0113
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 283 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(280): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+4534A>G
c.1670+4534A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201302
chr21:46201328 G
G
 C
C
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+4508C>G
c.1670+4508C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201328
chr21:46201328 G
G
 GAGGATAG
others(83): Show 
GAGGATAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1670+4507_1670+450
others(94): Show 
c.1670+4507_1670+4508insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTATCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201328
chr21:46201332 G
G
 A
A
 21 a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
others(18): Show 
a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
a0001c0001t0001g0189
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0006t0001g0070
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0008c0013t0016g0043
a0008c0013t0016g0044
a0012c0022t0001g0188
 23 HG00639.hp2
HG01099.hp2
HG01496.hp2
others(20): Show 
HG00639.hp2
HG01099.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02055.hp1
HG02148.hp1
HG02451.hp1
HG02486.hp2
HG02630.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03540.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA18950.hp1
NA18985.hp1
NA19030.hp2
 intron_variant MODIFIER c.1670+4504C>T
c.1670+4504C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201332
chr21:46201347 C
C
 CGTGGGAG
others(218): Show 
CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA
AGCCCTGAGGGTAGAGCCTGGATCAT
 11 a0001c0006t0005g0049
a0001c0006t0010g0120
a0001c0006t0010g0121
others(8): Show 
a0001c0006t0005g0049
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0123
a0001c0006t0011g0045
a0004c0007t0005g0047
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0264
a0004c0007t0005g0284
 11 HG01106.hp2
HG01192.hp2
HG02451.hp2
others(8): Show 
HG01106.hp2
HG01192.hp2
HG02451.hp2
HG02615.hp2
HG02886.hp2
HG03098.hp2
HG03209.hp2
HG03540.hp2
NA18906.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1670+4488_1670+448
others(229): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTCATGACCTG
TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201347 C
C
 CGTGGGAG
others(173): Show 
CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGGTAGAGCCTGGATCAT
 1 a0001c0006t0010g0122
a0001c0006t0010g0122
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.1670+4488_1670+448
others(184): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG
TCCTCCCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTC
CCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201347 C
C
 CGTGGGAG
others(218): Show 
CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA
AGCCCTGAGGGTAGAGCCTGGATCAT
 1 a0004c0007t0005g0051
a0004c0007t0005g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1670+4488_1670+448
others(229): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG
TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201347 C
C
 CGTGGGAG
others(398): Show 
CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA
AGCCCTGAGGGTAGAGCCTGGATCATGTGGGAGGACAGGTCATGAAGCCC
TGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGG
GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA
GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG
GATCAT
 1 a0004c0007t0005g0052
a0004c0007t0005g0052
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1670+4488_1670+448
others(409): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG
TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC
CCACATGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG
TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC
CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC
TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC
CCTGAGGGCTTCATGACCTGTCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201347 C
C
 CGTGGGAG
others(218): Show 
CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT
CATGAAGCCCTGAGGGTAGAGCCTGGATCATGTGGGAGGACAGGTCATGA
AGCCCTGAGGGTAGAGCCTGGATCAT
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1670+4488_1670+448
others(229): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACATGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG
TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC
CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201347 C
C
 CGTGGGAG
others(83): Show 
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAT
 10 a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
others(7): Show 
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 10 HG00639.hp2
HG01515.hp2
HG01884.hp1
others(7): Show 
HG00639.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp2
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
 intron_variant MODIFIER c.1670+4488_1670+448
others(94): Show 
c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201347
chr21:46201373 G
G
 C
C
 104 a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
others(101): Show 
a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0056
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0018
a0002c0002t0002g0068
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0104
a0002c0002t0002g0109
a0002c0002t0002g0113
a0010c0027t0006g0263
a0011c0020t0001g0173
a0015c0017t0009g0271
a0016c0026t0001g0199
 136 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(133): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01069.hp2
HG01106.hp2
HG01123.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1670+4463C>G
c.1670+4463C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(263): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG
AGGACAGGTCATGAAGCCCTC
 19 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(16): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0026g0138
 25 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(22): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03710.hp2
NA18949.hp1
NA18994.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+4462_1670+446
others(274): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTG
AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(83): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 5 a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
others(2): Show 
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0008c0013t0016g0043
a0008c0013t0016g0044
 5 HG02451.hp1
HG02486.hp2
HG02970.hp2
others(2): Show 
HG02451.hp1
HG02486.hp2
HG02970.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.1670+4462_1670+446
others(94): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(308): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG
AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC
AGGTCATGAAGCCCTC
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.1670+4462_1670+446
others(319): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTG
AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC
TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(128): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTC
 7 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
others(4): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
 9 HG00099.hp1
HG01361.hp1
HG01981.hp2
others(6): Show 
HG00099.hp1
HG01361.hp1
HG01981.hp2
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG03239.hp1
HG03688.hp1
HG04184.hp1
 intron_variant MODIFIER c.1670+4462_1670+446
others(139): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(308): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG
AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC
AGGTCATGAAGCCCTC
 18 a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
others(15): Show 
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0221
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 20 HG00558.hp1
HG00609.hp1
HG01123.hp1
others(17): Show 
HG00558.hp1
HG00609.hp1
HG01123.hp1
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04184.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18978.hp2
NA18986.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1670+4462_1670+446
others(319): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
TCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTC
AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC
TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(173): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTC
 12 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
others(9): Show 
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 16 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(13): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp2
HG02976.hp1
HG03130.hp1
HG03225.hp1
HG03579.hp1
NA18906.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.1670+4462_1670+446
others(184): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(218): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTC
 2 a0001c0004t0003g0026
a0001c0004t0003g0141
a0001c0004t0003g0026
a0001c0004t0003g0141
 3 NA18957.hp2
NA19065.hp2
NA19070.hp1
NA18957.hp2
NA19065.hp2
NA19070.hp1
 intron_variant MODIFIER c.1670+4462_1670+446
others(229): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201373 G
G
 GAGGGTAG
others(308): Show 
GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG
TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG
CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG
ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC
GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG
AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC
AGGTCATGAAGCCCTC
 6 a0003c0003t0001g0009
a0003c0003t0001g0131
a0003c0003t0001g0222
others(3): Show 
a0003c0003t0001g0009
a0003c0003t0001g0131
a0003c0003t0001g0222
a0003c0003t0001g0229
a0003c0003t0001g0233
a0003c0003t0001g0235
 8 HG00280.hp2
HG00738.hp1
HG01168.hp2
others(5): Show 
HG00280.hp2
HG00738.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG04115.hp2
HG04199.hp1
NA18999.hp1
 intron_variant MODIFIER c.1670+4462_1670+446
others(319): Show 
c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC
GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT
CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG
CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA
CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTC
AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC
TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201373
chr21:46201394 T
T
 TGGGAGGA
others(83): Show 
TGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGA
GGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGG
 5 a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0146
a0001c0001t0001g0177
a0001c0001t0001g0189
a0012c0022t0001g0188
 7 HG01099.hp2
HG01496.hp2
HG01952.hp1
others(4): Show 
HG01099.hp2
HG01496.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02148.hp1
NA18950.hp1
 intron_variant MODIFIER c.1670+4441_1670+444
others(94): Show 
c.1670+4441_1670+4442insCCGTGATCCAGGCTCTACCCTGAGGG
CTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCA
TGACCTGTCCTCCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201394
chr21:46201409 T
T
 TG
TG
 58 a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
others(55): Show 
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0073
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0110
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 73 HG00323.hp1
HG00544.hp2
HG00558.hp2
others(70): Show 
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01167.hp1
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18979.hp1
NA18987.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+4426dupC
c.1670+4426dupC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201409
chr21:46201409 T
T
 TGAAGCCC
others(264): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTG
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGT
AGAGCCTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGTAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCATG
 3 a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
 5 HG02056.hp1
NA18943.hp1
NA18960.hp2
others(2): Show 
HG02056.hp1
NA18943.hp1
NA18960.hp2
NA18991.hp1
NA19066.hp2
 intron_variant MODIFIER c.1670+4426_1670+442
others(275): Show 
c.1670+4426_1670+4427insCATGACCTGTCCTCCCACGTGATCCA
GGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTC
TACCCTCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCTACCC
TCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGG
GCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTC
ATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201409
chr21:46201409 T
T
 TGAAGCCC
others(264): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTG
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGT
AGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCATG
 3 a0002c0002t0002g0018
a0002c0002t0002g0104
a0002c0002t0002g0113
a0002c0002t0002g0018
a0002c0002t0002g0104
a0002c0002t0002g0113
 4 HG00642.hp1
HG01123.hp2
HG02071.hp1
others(1): Show 
HG00642.hp1
HG01123.hp2
HG02071.hp1
HG03491.hp2
 intron_variant MODIFIER c.1670+4426_1670+442
others(275): Show 
c.1670+4426_1670+4427insCATGACCTGTCCTCCCACGTGATCCA
GGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTC
TACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCC
TCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGG
GCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTC
ATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201409
chr21:46201409 T
T
 TGAAGCCC
others(264): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTG
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGT
AGAGCCTGGATCATGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCATG
 3 a0002c0002t0002g0002
a0002c0002t0002g0068
a0002c0002t0002g0097
a0002c0002t0002g0002
a0002c0002t0002g0068
a0002c0002t0002g0097
 3 HG01192.hp1
HG02717.hp2
HG03654.hp2
HG01192.hp1
HG02717.hp2
HG03654.hp2
 intron_variant MODIFIER c.1670+4426_1670+442
others(275): Show 
c.1670+4426_1670+4427insCATGACCTGTCCTCCCACGTGATCCA
GGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTC
TACCCTCAGGGCTTCATGACCTGTCCTCCCACATGATCCAGGCTCTACCC
TCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGG
GCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTC
ATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201409
chr21:46201409 T
T
 TGAAGCCC
others(264): Show 
TGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTG
AGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCACGAAGCCCTGAGGGT
AGAGCCTGGATCATGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGC
CTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGA
TCACGTGGGAGGACAGGTCATG
 2 a0002c0002t0002g0074
a0002c0002t0002g0109
a0002c0002t0002g0074
a0002c0002t0002g0109
 2 HG00140.hp1
NA18975.hp2
HG00140.hp1
NA18975.hp2
 intron_variant MODIFIER c.1670+4426_1670+442
others(275): Show 
c.1670+4426_1670+4427insCATGACCTGTCCTCCCACGTGATCCA
GGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTC
TACCCTCAGGGCTTCATGACCTGTCCTCCCACATGATCCAGGCTCTACCC
TCAGGGCTTCGTGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGG
GCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
ATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201409
chr21:46201437 C
C
 CGTGGGAG
others(128): Show 
CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG
GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA
CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAT
 1 a0001c0006t0005g0056
a0001c0006t0005g0056
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1670+4398_1670+439
others(139): Show 
c.1670+4398_1670+4399insATGATCCAGGCTCTACCCTCAGGGCT
TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG
ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG
TCCTCCCAC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201437
chr21:46201454 T
T
 TGAAGCCC
others(83): Show 
TGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAG
CCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCAC
 1 a0001c0006t0001g0070
a0001c0006t0001g0070
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1670+4381_1670+438
others(94): Show 
c.1670+4381_1670+4382insGTGACCTGTCCTCCCACGTGATCCAG
GCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCT
ATCCTCAGGGCTTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201454
chr21:46201728 T
T
 C
C
 7 a0001c0004t0007g0145
a0001c0006t0007g0038
a0001c0006t0007g0247
others(4): Show 
a0001c0004t0007g0145
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
 8 HG01074.hp1
HG01884.hp1
HG02630.hp1
others(5): Show 
HG01074.hp1
HG01884.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG03041.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1670+4108A>G
c.1670+4108A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201728
chr21:46201770 A
A
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1670+4066T>A
c.1670+4066T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201770
chr21:46201775 A
A
 G
G
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1670+4061T>C
c.1670+4061T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201775
chr21:46201801 C
C
 CT
CT
 58 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(55): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0010c0027t0006g0263
 73 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(70): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG02055.hp2
HG02129.hp2
HG02148.hp2
HG02523.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp2
HG02897.hp1
HG02922.hp2
HG03491.hp1
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18994.hp1
NA18999.hp1
NA19056.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+4034dupA
c.1670+4034dupA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201801
chr21:46201801 CT
CT
 C
C
 20 a0001c0001t0001g0192
a0003c0003t0001g0032
a0003c0003t0001g0033
others(17): Show 
a0001c0001t0001g0192
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0004c0007t0005g0052
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 24 HG00099.hp1
HG01167.hp2
HG01361.hp1
others(21): Show 
HG00099.hp1
HG01167.hp2
HG01361.hp1
HG01981.hp2
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03239.hp1
HG03579.hp1
HG03688.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp2
NA19074.hp2
NA21309.hp2
 intron_variant MODIFIER c.1670+4034delA
c.1670+4034delA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201801
chr21:46201801 CTTT
CTTT
 C
C
 87 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(84): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 107 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(104): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+4032_1670+403
others(7): Show 
c.1670+4032_1670+4034delAAA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201801
chr21:46201837 G
G
 A
A
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1670+3999C>T
c.1670+3999C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201837
chr21:46201899 G
G
 A
A
 2 a0008c0013t0016g0043
a0008c0013t0016g0044
a0008c0013t0016g0043
a0008c0013t0016g0044
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.1670+3937C>T
c.1670+3937C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201899
chr21:46201922 C
C
 T
T
 8 a0002c0002t0002g0066
a0002c0002t0002g0097
a0002c0002t0002g0098
others(5): Show 
a0002c0002t0002g0066
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0106
a0002c0002t0002g0265
a0002c0002t0022g0081
 8 HG03654.hp2
NA18946.hp1
NA18965.hp1
others(5): Show 
HG03654.hp2
NA18946.hp1
NA18965.hp1
NA19065.hp1
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp1
 intron_variant MODIFIER c.1670+3914G>A
c.1670+3914G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201922
chr21:46201954 C
C
 T
T
 2 a0001c0001t0001g0172
a0001c0001t0001g0240
a0001c0001t0001g0172
a0001c0001t0001g0240
 2 HG02717.hp1
HG06807.hp1
HG02717.hp1
HG06807.hp1
 intron_variant MODIFIER c.1670+3882G>A
c.1670+3882G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201954
chr21:46201955 G
G
 A
A
 68 a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
others(65): Show 
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 87 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(84): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+3881C>T
c.1670+3881C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201955
chr21:46201996 G
G
 A
A
 12 a0001c0006t0005g0049
a0001c0006t0005g0056
a0004c0007t0005g0012
others(9): Show 
a0001c0006t0005g0049
a0001c0006t0005g0056
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1670+3840C>T
c.1670+3840C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46201996
chr21:46202029 T
T
 C
C
 16 a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
others(13): Show 
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0009t0004g0024
 21 HG01257.hp2
HG01258.hp1
HG01884.hp2
others(18): Show 
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+3807A>G
c.1670+3807A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202029
chr21:46202086 G
G
 A
A
 1 a0001c0004t0003g0003
a0001c0004t0003g0003
 4 HG01070.hp2
HG01071.hp2
NA20129.hp1
others(1): Show 
HG01070.hp2
HG01071.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+3750C>T
c.1670+3750C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202086
chr21:46202090 G
G
 A
A
 1 a0001c0004t0003g0130
a0001c0004t0003g0130
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1670+3746C>T
c.1670+3746C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202090
chr21:46202123 G
G
 A
A
 1 a0001c0004t0008g0250
a0001c0004t0008g0250
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1670+3713C>T
c.1670+3713C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202123
chr21:46202208 A
A
 G
G
 1 a0003c0003t0001g0035
a0003c0003t0001g0035
 2 NA18954.hp1
NA18959.hp2
NA18954.hp1
NA18959.hp2
 intron_variant MODIFIER c.1670+3628T>C
c.1670+3628T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202208
chr21:46202219 C
C
 A
A
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1670+3617G>T
c.1670+3617G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202219
chr21:46202222 G
G
 A
A
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+3614C>T
c.1670+3614C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202222
chr21:46202286 T
T
 C
C
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1670+3550A>G
c.1670+3550A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202286
chr21:46202380 C
C
 T
T
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1670+3456G>A
c.1670+3456G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202380
chr21:46202403 A
A
 T
T
 1 a0005c0008t0004g0058
a0005c0008t0004g0058
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1670+3433T>A
c.1670+3433T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202403
chr21:46202404 A
A
 AT
AT
 12 a0001c0006t0005g0049
a0001c0006t0005g0056
a0004c0007t0005g0012
others(9): Show 
a0001c0006t0005g0049
a0001c0006t0005g0056
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
 13 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(10): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1670+3431_1670+343
others(5): Show 
c.1670+3431_1670+3432insA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202404
chr21:46202404 A
A
 T
T
 2 a0002c0002t0002g0006
a0003c0003t0001g0242
a0002c0002t0002g0006
a0003c0003t0001g0242
 4 HG00738.hp2
HG02129.hp2
HG02559.hp2
others(1): Show 
HG00738.hp2
HG02129.hp2
HG02559.hp2
HG03516.hp1
 intron_variant MODIFIER c.1670+3432T>A
c.1670+3432T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202404
chr21:46202407 A
A
 T
T
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.1670+3429T>A
c.1670+3429T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202407
chr21:46202408 T
T
 A
A
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.1670+3428A>T
c.1670+3428A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202408
chr21:46202597 A
A
 T
T
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1670+3239T>A
c.1670+3239T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202597
chr21:46202796 G
G
 C
C
 2 a0001c0004t0003g0026
a0001c0004t0003g0141
a0001c0004t0003g0026
a0001c0004t0003g0141
 3 NA18957.hp2
NA19065.hp2
NA19070.hp1
NA18957.hp2
NA19065.hp2
NA19070.hp1
 intron_variant MODIFIER c.1670+3040C>G
c.1670+3040C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202796
chr21:46202813 A
A
 G
G
 109 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(106): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 130 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(127): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1670+3023T>C
c.1670+3023T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202813
chr21:46202956 T
T
 C
C
 22 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(19): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
 29 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(26): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+2880A>G
c.1670+2880A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46202956
chr21:46203005 A
A
 C
C
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1670+2831T>G
c.1670+2831T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203005
chr21:46203067 G
G
 C
C
 208 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(205): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 258 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(255): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+2769C>G
c.1670+2769C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203067
chr21:46203105 A
A
 C
C
 2 a0002c0002t0002g0105
a0013c0019t0002g0112
a0002c0002t0002g0105
a0013c0019t0002g0112
 2 HG03927.hp1
HG03942.hp1
HG03927.hp1
HG03942.hp1
 intron_variant MODIFIER c.1670+2731T>G
c.1670+2731T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203105
chr21:46203154 T
T
 G
G
 42 a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
others(39): Show 
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
 50 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(47): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.1670+2682A>C
c.1670+2682A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203154
chr21:46203252 G
G
 A
A
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1670+2584C>T
c.1670+2584C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203252
chr21:46203264 AAAC
AAAC
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1670+2569_1670+257
others(7): Show 
c.1670+2569_1670+2571delGTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203264
chr21:46203337 T
T
 G
G
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1670+2499A>C
c.1670+2499A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203337
chr21:46203360 T
T
 G
G
 65 a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
others(62): Show 
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 84 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(81): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+2476A>C
c.1670+2476A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203360
chr21:46203423 C
C
 T
T
 17 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(14): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0015c0017t0009g0271
 21 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(18): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+2413G>A
c.1670+2413G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203423
chr21:46203461 T
T
 A
A
 1 a0002c0002t0002g0089
a0002c0002t0002g0089
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1670+2375A>T
c.1670+2375A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203461
chr21:46203626 C
C
 T
T
 1 a0003c0003t0001g0227
a0003c0003t0001g0227
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1670+2210G>A
c.1670+2210G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203626
chr21:46203659 G
G
 A
A
 106 a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
others(103): Show 
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 127 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(124): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1670+2177C>T
c.1670+2177C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203659
chr21:46203668 G
G
 A
A
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1670+2168C>T
c.1670+2168C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203668
chr21:46203701 C
C
 T
T
 17 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(14): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0015c0017t0009g0271
 21 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(18): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1670+2135G>A
c.1670+2135G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203701
chr21:46203754 C
C
 CA
CA
 4 a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0140
others(1): Show 
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0140
a0001c0004t0003g0238
 4 HG00597.hp2
HG02523.hp1
NA18949.hp1
others(1): Show 
HG00597.hp2
HG02523.hp1
NA18949.hp1
NA18994.hp1
 intron_variant MODIFIER c.1670+2081dupT
c.1670+2081dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203754
chr21:46203934 T
T
 G
G
 187 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(184): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0013c0019t0002g0112
a0014c0024t0013g0101
 229 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+1902A>C
c.1670+1902A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203934
chr21:46203936 A
A
 G
G
 1 a0005c0008t0004g0060
a0005c0008t0004g0060
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1670+1900T>C
c.1670+1900T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203936
chr21:46203959 T
T
 C
C
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1670+1877A>G
c.1670+1877A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203959
chr21:46203963 A
A
 C
C
 6 a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
others(3): Show 
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 6 HG01167.hp2
HG02280.hp2
HG02886.hp1
others(3): Show 
HG01167.hp2
HG02280.hp2
HG02886.hp1
HG03098.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.1670+1873T>G
c.1670+1873T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46203963
chr21:46204061 G
G
 C
C
 1 a0002c0002t0002g0061
a0002c0002t0002g0061
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1670+1775C>G
c.1670+1775C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46204061
chr21:46204385 AT
AT
 A
A
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+1450delA
c.1670+1450delA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46204385
chr21:46204508 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1670+1328C>T
c.1670+1328C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46204508
chr21:46204586 G
G
 A
A
 1 a0003c0003t0001g0235
a0003c0003t0001g0235
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1670+1250C>T
c.1670+1250C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46204586
chr21:46204634 A
A
 G
G
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+1202T>C
c.1670+1202T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46204634
chr21:46205013 C
C
 T
T
 1 a0002c0025t0002g0102
a0002c0025t0002g0102
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1670+823G>A
c.1670+823G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205013
chr21:46205152 A
A
 C
C
 1 a0001c0001t0001g0276
a0001c0001t0001g0276
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1670+684T>G
c.1670+684T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205152
chr21:46205166 A
A
 C
C
 1 a0013c0019t0002g0112
a0013c0019t0002g0112
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1670+670T>G
c.1670+670T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205166
chr21:46205267 C
C
 G
G
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1670+569G>C
c.1670+569G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205267
chr21:46205288 C
C
 CGAGCAGG
others(1): Show 
CGAGCAGGA
 7 a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
others(4): Show 
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 9 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA20752.hp2
 intron_variant MODIFIER c.1670+540_1670+547d
others(10): Show 
c.1670+540_1670+547dupTCCTGCTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205288
chr21:46205288 CGAGCAGG
others(1): Show 
CGAGCAGGA
 C
C
 106 a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0240
others(103): Show 
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0240
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 127 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(124): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1670+540_1670+547d
others(10): Show 
c.1670+540_1670+547delTCCTGCTC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205288
chr21:46205438 T
T
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1670+398A>G
c.1670+398A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205438
chr21:46205630 C
C
 T
T
 208 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(205): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 258 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(255): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1670+206G>A
c.1670+206G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205630
chr21:46205631 A
A
 G
G
 1 a0001c0005t0006g0262
a0001c0005t0006g0262
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1670+205T>C
c.1670+205T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205631
chr21:46205744 T
T
 C
C
 42 a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
others(39): Show 
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
 50 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(47): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.1670+92A>G
c.1670+92A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205744
chr21:46205745 G
G
 A
A
 1 a0003c0003t0001g0224
a0003c0003t0001g0224
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1670+91C>T
c.1670+91C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205745
chr21:46205805 G
G
 A
A
 1 a0001c0015t0001g0124
a0001c0015t0001g0124
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1670+31C>T
c.1670+31C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 17/21 chr21 46205805
chr21:46206007 G
G
 A
A
 1 a0001c0001t0001g0272
a0001c0001t0001g0272
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1565-66C>T
c.1565-66C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/21 chr21 46206007
chr21:46206122 A
A
 G
G
 1 a0001c0005t0001g0279
a0001c0005t0001g0279
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1565-181T>C
c.1565-181T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/21 chr21 46206122
chr21:46206190 G
G
 A
A
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1565-249C>T
c.1565-249C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/21 chr21 46206190
chr21:46206260 C
C
 G
G
 1 a0002c0002t0002g0061
a0002c0002t0002g0061
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1565-319G>C
c.1565-319G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/21 chr21 46206260
chr21:46206395 G
G
 A
A
 1 a0001c0006t0005g0056
a0001c0006t0005g0056
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1564+277C>T
c.1564+277C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 16/21 chr21 46206395
chr21:46206814 C
C
 T
T
 7 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
others(4): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
 9 HG00099.hp1
HG01361.hp1
HG01981.hp2
others(6): Show 
HG00099.hp1
HG01361.hp1
HG01981.hp2
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG03239.hp1
HG03688.hp1
HG04184.hp1
 intron_variant MODIFIER c.1468-46G>A
c.1468-46G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46206814
chr21:46206836 C
C
 A
A
 1 a0002c0023t0002g0095
a0002c0023t0002g0095
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1468-68G>T
c.1468-68G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46206836
chr21:46206845 C
C
 A
A
 17 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(14): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0015c0017t0009g0271
 21 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(18): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1468-77G>T
c.1468-77G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46206845
chr21:46207044 C
C
 T
T
 2 a0001c0005t0006g0262
a0010c0027t0006g0263
a0001c0005t0006g0262
a0010c0027t0006g0263
 2 HG03831.hp1
HG04204.hp2
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.1468-276G>A
c.1468-276G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46207044
chr21:46207176 G
G
 A
A
 1 a0001c0001t0023g0193
a0001c0001t0023g0193
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1467+252C>T
c.1467+252C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46207176
chr21:46207192 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.1467+236C>T
c.1467+236C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46207192
chr21:46207199 G
G
 A
A
 1 a0001c0005t0009g0274
a0001c0005t0009g0274
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1467+229C>T
c.1467+229C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46207199
chr21:46207331 C
C
 A
A
 104 a0001c0004t0003g0130
a0001c0004t0003g0144
a0001c0004t0008g0250
others(101): Show 
a0001c0004t0003g0130
a0001c0004t0003g0144
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 125 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(122): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1467+97G>T
c.1467+97G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 15/21 chr21 46207331
chr21:46207802 CCT
CCT
 C
C
 16 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(13): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0024g0275
a0015c0017t0009g0271
 20 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(17): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1318-227_1318-226d
others(4): Show 
c.1318-227_1318-226delAG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 14/21 chr21 46207802
chr21:46207883 G
G
 A
A
 1 a0001c0004t0019g0251
a0001c0004t0019g0251
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1318-306C>T
c.1318-306C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 14/21 chr21 46207883
chr21:46208003 T
T
 C
C
 1 a0013c0019t0002g0112
a0013c0019t0002g0112
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1317+248A>G
c.1317+248A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 14/21 chr21 46208003
chr21:46208045 C
C
 T
T
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 2 NA18986.hp2
NA18988.hp2
NA18986.hp2
NA18988.hp2
 intron_variant MODIFIER c.1317+206G>A
c.1317+206G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 14/21 chr21 46208045
chr21:46208348 C
C
 T
T
 1 a0001c0004t0012g0206
a0001c0004t0012g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1267-47G>A
c.1267-47G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208348
chr21:46208398 G
G
 A
A
 3 a0001c0006t0007g0038
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0038
a0001c0006t0007g0256
a0001c0006t0007g0257
 4 HG02630.hp1
HG02723.hp1
NA19043.hp1
others(1): Show 
HG02630.hp1
HG02723.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1267-97C>T
c.1267-97C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208398
chr21:46208429 C
C
 T
T
 4 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(1): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
 4 HG01109.hp1
HG02615.hp1
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.1267-128G>A
c.1267-128G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208429
chr21:46208446 G
G
 A
A
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1267-145C>T
c.1267-145C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208446
chr21:46208461 G
G
 T
T
 20 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(17): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
 27 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(24): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1267-160C>A
c.1267-160C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208461
chr21:46208508 C
C
 A
A
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1267-207G>T
c.1267-207G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208508
chr21:46208635 C
C
 G
G
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1267-334G>C
c.1267-334G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208635
chr21:46208647 A
A
 G
G
 1 a0001c0001t0017g0182
a0001c0001t0017g0182
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1267-346T>C
c.1267-346T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208647
chr21:46208797 A
A
 G
G
 209 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(206): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 259 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1267-496T>C
c.1267-496T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208797
chr21:46208801 T
T
 C
C
 1 a0002c0002t0002g0091
a0002c0002t0002g0091
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1267-500A>G
c.1267-500A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208801
chr21:46208980 G
G
 C
C
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1266+574C>G
c.1266+574C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46208980
chr21:46209028 G
G
 A
A
 5 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
others(2): Show 
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
 7 HG02486.hp1
HG02622.hp1
HG02976.hp1
others(4): Show 
HG02486.hp1
HG02622.hp1
HG02976.hp1
HG03130.hp1
HG03579.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.1266+526C>T
c.1266+526C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46209028
chr21:46209143 C
C
 G
G
 1 a0002c0025t0002g0102
a0002c0025t0002g0102
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1266+411G>C
c.1266+411G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46209143
chr21:46209231 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1266+323C>T
c.1266+323C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46209231
chr21:46209354 G
G
 A
A
 127 a0001c0001t0001g0152
a0001c0004t0003g0003
a0001c0004t0003g0007
others(124): Show 
a0001c0001t0001g0152
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0013c0019t0002g0112
a0014c0024t0013g0101
 155 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02155.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1266+200C>T
c.1266+200C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46209354
chr21:46209464 G
G
 A
A
 1 a0001c0006t0005g0056
a0001c0006t0005g0056
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1266+90C>T
c.1266+90C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 13/21 chr21 46209464
chr21:46209656 G
G
 A
A
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1195-31C>T
c.1195-31C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46209656
chr21:46209668 C
C
 T
T
 4 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(1): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
 4 HG01109.hp1
HG02615.hp1
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.1195-43G>A
c.1195-43G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46209668
chr21:46209990 C
C
 G
G
 1 a0001c0015t0001g0124
a0001c0015t0001g0124
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1195-365G>C
c.1195-365G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46209990
chr21:46209999 A
A
 G
G
 1 a0002c0002t0002g0080
a0002c0002t0002g0080
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1195-374T>C
c.1195-374T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46209999
chr21:46210063 C
C
 CT
CT
 93 a0001c0001t0001g0168
a0001c0001t0001g0171
a0001c0001t0001g0181
others(90): Show 
a0001c0001t0001g0168
a0001c0001t0001g0171
a0001c0001t0001g0181
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0130
a0001c0004t0003g0142
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0123
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0018t0002g0046
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0212
a0003c0003t0001g0221
a0003c0003t0001g0242
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0013c0019t0002g0112
a0014c0024t0013g0101
 116 HG00140.hp1
HG00323.hp1
HG00558.hp2
others(113): Show 
HG00140.hp1
HG00323.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02165.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18969.hp2
NA18970.hp1
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1195-439dupA
c.1195-439dupA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210063
chr21:46210063 CT
CT
 C
C
 13 a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0017g0179
others(10): Show 
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0017g0179
a0001c0001t0020g0201
a0001c0004t0003g0128
a0001c0004t0003g0136
a0003c0003t0001g0215
a0003c0003t0001g0232
a0003c0003t0001g0236
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0217
a0006c0011t0001g0218
 13 HG00323.hp2
HG01099.hp1
HG01167.hp2
others(10): Show 
HG00323.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01496.hp1
HG02698.hp1
HG02896.hp1
HG03834.hp1
NA18522.hp1
NA18962.hp1
NA18968.hp1
NA18975.hp1
NA18998.hp2
 intron_variant MODIFIER c.1195-439delA
c.1195-439delA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210063
chr21:46210107 C
C
 T
T
 2 a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0008g0253
a0001c0006t0008g0254
 2 HG02055.hp1
HG02970.hp1
HG02055.hp1
HG02970.hp1
 intron_variant MODIFIER c.1195-482G>A
c.1195-482G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210107
chr21:46210140 C
C
 T
T
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1195-515G>A
c.1195-515G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210140
chr21:46210160 G
G
 A
A
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.1194+528C>T
c.1194+528C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210160
chr21:46210215 G
G
 A
A
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1194+473C>T
c.1194+473C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210215
chr21:46210223 G
G
 A
A
 3 a0004c0007t0005g0047
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0047
a0004c0007t0005g0054
a0004c0007t0005g0055
 3 HG02451.hp2
HG03098.hp2
NA20129.hp2
HG02451.hp2
HG03098.hp2
NA20129.hp2
 intron_variant MODIFIER c.1194+465C>T
c.1194+465C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210223
chr21:46210256 C
C
 T
T
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1194+432G>A
c.1194+432G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210256
chr21:46210320 C
C
 A
A
 1 a0002c0002t0002g0093
a0002c0002t0002g0093
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1194+368G>T
c.1194+368G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210320
chr21:46210526 C
C
 A
A
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.1194+162G>T
c.1194+162G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210526
chr21:46210628 C
C
 T
T
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1194+60G>A
c.1194+60G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210628
chr21:46210636 C
C
 T
T
 73 a0001c0001t0001g0168
a0001c0004t0011g0244
a0001c0004t0011g0245
others(70): Show 
a0001c0001t0001g0168
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0001g0070
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 92 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(89): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1194+52G>A
c.1194+52G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 12/21 chr21 46210636
chr21:46210767 C
C
 T
T
 1 a0001c0004t0003g0132
a0001c0004t0003g0132
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1138-23G>A
c.1138-23G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46210767
chr21:46210822 C
C
 T
T
 1 a0003c0003t0001g0221
a0003c0003t0001g0221
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1138-78G>A
c.1138-78G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46210822
chr21:46210891 C
C
 T
T
 5 a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
others(2): Show 
a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 8 HG02698.hp2
HG03831.hp1
HG04204.hp1
others(5): Show 
HG02698.hp2
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1138-147G>A
c.1138-147G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46210891
chr21:46210948 G
G
 A
A
 85 a0001c0001t0001g0168
a0001c0004t0008g0250
a0001c0004t0008g0252
others(82): Show 
a0001c0001t0001g0168
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0006g0262
a0001c0006t0001g0070
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 104 HG00140.hp1
HG00323.hp1
HG00558.hp2
others(101): Show 
HG00140.hp1
HG00323.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02273.hp1
HG02280.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1138-204C>T
c.1138-204C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46210948
chr21:46211037 T
T
 C
C
 213 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
others(210): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0196
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 263 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-293A>G
c.1138-293A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211037
chr21:46211046 C
C
 T
T
 11 a0001c0006t0005g0056
a0004c0007t0005g0012
a0004c0007t0005g0047
others(8): Show 
a0001c0006t0005g0056
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
 12 HG02451.hp2
HG02615.hp2
HG02622.hp2
others(9): Show 
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03098.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1138-302G>A
c.1138-302G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211046
chr21:46211048 G
G
 A
A
 13 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(10): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0005t0001g0278
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 14 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(11): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02723.hp1
HG02970.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1138-304C>T
c.1138-304C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211048
chr21:46211064 C
C
 T
T
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1138-320G>A
c.1138-320G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211064
chr21:46211128 C
C
 T
T
 1 a0003c0003t0015g0226
a0003c0003t0015g0226
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1138-384G>A
c.1138-384G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211128
chr21:46211251 G
G
 C
C
 1 a0001c0006t0010g0123
a0001c0006t0010g0123
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1138-507C>G
c.1138-507C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211251
chr21:46211285 C
C
 T
T
 68 a0001c0001t0001g0149
a0001c0004t0003g0134
a0001c0004t0003g0137
others(65): Show 
a0001c0001t0001g0149
a0001c0004t0003g0134
a0001c0004t0003g0137
a0001c0004t0003g0143
a0001c0004t0026g0138
a0001c0005t0006g0261
a0001c0006t0001g0070
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0066
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0025t0002g0102
a0003c0003t0001g0032
a0013c0019t0002g0112
a0014c0024t0013g0101
 87 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(84): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1138-541G>A
c.1138-541G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211285
chr21:46211331 A
A
 G
G
 188 a0001c0001t0001g0027
a0001c0001t0001g0129
a0001c0001t0001g0149
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0129
a0001c0001t0001g0149
a0001c0001t0001g0151
a0001c0001t0001g0158
a0001c0001t0001g0163
a0001c0001t0001g0168
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0200
a0001c0001t0001g0240
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0056
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0066
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0047
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0284
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0011c0020t0001g0173
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 232 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(229): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02165.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-587T>C
c.1138-587T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211331
chr21:46211377 C
C
 T
T
 1 a0002c0002t0002g0079
a0002c0002t0002g0079
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1138-633G>A
c.1138-633G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211377
chr21:46211395 T
T
 C
C
 5 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(2): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
a0004c0007t0005g0059
 5 HG01109.hp1
HG02615.hp1
HG02622.hp2
others(2): Show 
HG01109.hp1
HG02615.hp1
HG02622.hp2
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.1138-651A>G
c.1138-651A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211395
chr21:46211396 A
A
 T
T
 5 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(2): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
a0004c0007t0005g0059
 5 HG01109.hp1
HG02615.hp1
HG02622.hp2
others(2): Show 
HG01109.hp1
HG02615.hp1
HG02622.hp2
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.1138-652T>A
c.1138-652T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211396
chr21:46211419 G
G
 A
A
 3 a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
 5 HG02056.hp1
NA18943.hp1
NA18960.hp2
others(2): Show 
HG02056.hp1
NA18943.hp1
NA18960.hp2
NA18991.hp1
NA19066.hp2
 intron_variant MODIFIER c.1138-675C>T
c.1138-675C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211419
chr21:46211421 A
A
 G
G
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1138-677T>C
c.1138-677T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211421
chr21:46211803 A
A
 AACCTTCC
others(3): Show 
AACCTTCCAGG
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 NA19078.hp1
NA19078.hp1
 intron_variant MODIFIER c.1138-1069_1138-106
others(14): Show 
c.1138-1069_1138-1060dupCCTGGAAGGT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211803
chr21:46211870 C
C
 G
G
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1138-1126G>C
c.1138-1126G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46211870
chr21:46212047 G
G
 A
A
 8 a0001c0001t0001g0198
a0005c0008t0004g0010
a0005c0008t0004g0011
others(5): Show 
a0001c0001t0001g0198
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 10 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(7): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02683.hp2
HG03225.hp1
NA19004.hp1
NA20752.hp2
 intron_variant MODIFIER c.1137+978C>T
c.1137+978C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212047
chr21:46212049 TGGGCAGG
others(3): Show 
TGGGCAGGGAG
 T
T
 107 a0001c0001t0001g0147
a0001c0001t0001g0168
a0001c0001t0001g0169
others(104): Show 
a0001c0001t0001g0147
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
 130 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(127): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp2
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1137+966_1137+975d
others(12): Show 
c.1137+966_1137+975delCTCCCTGCCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212049
chr21:46212058 A
A
 AG
AG
 5 a0002c0002t0002g0066
a0002c0002t0002g0097
a0002c0002t0002g0098
others(2): Show 
a0002c0002t0002g0066
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
 5 HG03654.hp2
NA18965.hp1
NA19065.hp1
others(2): Show 
HG03654.hp2
NA18965.hp1
NA19065.hp1
NA19079.hp2
NA19081.hp1
 intron_variant MODIFIER c.1137+966dupC
c.1137+966dupC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212058
chr21:46212061 G
G
 A
A
 7 a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
others(4): Show 
a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0003c0003t0001g0035
a0003c0003t0001g0117
a0010c0027t0006g0263
 11 HG02698.hp2
HG03239.hp2
HG03831.hp1
others(8): Show 
HG02698.hp2
HG03239.hp2
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18965.hp2
 intron_variant MODIFIER c.1137+964C>T
c.1137+964C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212061
chr21:46212153 C
C
 G
G
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.1137+872G>C
c.1137+872G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212153
chr21:46212362 G
G
 A
A
 43 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(40): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0284
a0015c0017t0009g0271
 51 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(48): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02129.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19043.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1137+663C>T
c.1137+663C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212362
chr21:46212452 G
G
 A
A
 1 a0003c0003t0001g0117
a0003c0003t0001g0117
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1137+573C>T
c.1137+573C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212452
chr21:46212590 C
C
 T
T
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1137+435G>A
c.1137+435G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212590
chr21:46212608 C
C
 T
T
 4 a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
others(1): Show 
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0264
 4 HG02886.hp2
HG02922.hp1
NA18906.hp1
others(1): Show 
HG02886.hp2
HG02922.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.1137+417G>A
c.1137+417G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212608
chr21:46212616 C
C
 T
T
 5 a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
others(2): Show 
a0001c0005t0006g0004
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 8 HG02698.hp2
HG03831.hp1
HG04204.hp1
others(5): Show 
HG02698.hp2
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.1137+409G>A
c.1137+409G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212616
chr21:46212635 C
C
 T
T
 1 a0004c0007t0005g0053
a0004c0007t0005g0053
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1137+390G>A
c.1137+390G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212635
chr21:46212666 C
C
 T
T
 45 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(42): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 49 HG00639.hp2
HG01069.hp1
HG01069.hp2
others(46): Show 
HG00639.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03540.hp2
HG03710.hp1
HG03942.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1137+359G>A
c.1137+359G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212666
chr21:46212794 G
G
 T
T
 1 a0002c0002t0002g0078
a0002c0002t0002g0078
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.1137+231C>A
c.1137+231C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212794
chr21:46212970 A
A
 G
G
 6 a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
others(3): Show 
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 6 HG01167.hp2
HG02280.hp2
HG02886.hp1
others(3): Show 
HG01167.hp2
HG02280.hp2
HG02886.hp1
HG03098.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.1137+55T>C
c.1137+55T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 11/21 chr21 46212970
chr21:46213081 T
T
 C
C
 32 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(29): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0004c0007t0005g0284
a0008c0013t0016g0043
a0008c0013t0016g0044
a0015c0017t0009g0271
 40 HG00099.hp1
HG01361.hp1
HG01884.hp2
others(37): Show 
HG00099.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG04184.hp1
HG06807.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1110-29A>G
c.1110-29A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 10/21 chr21 46213081
chr21:46213240 C
C
 G
G
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1110-188G>C
c.1110-188G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 10/21 chr21 46213240
chr21:46213274 G
G
 C
C
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.1110-222C>G
c.1110-222C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 10/21 chr21 46213274
chr21:46213328 C
C
 T
T
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.1110-276G>A
c.1110-276G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 10/21 chr21 46213328
chr21:46213504 C
C
 T
T
 2 a0001c0004t0003g0026
a0001c0004t0003g0141
a0001c0004t0003g0026
a0001c0004t0003g0141
 3 NA18957.hp2
NA19065.hp2
NA19070.hp1
NA18957.hp2
NA19065.hp2
NA19070.hp1
 intron_variant MODIFIER c.1109+234G>A
c.1109+234G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 10/21 chr21 46213504
chr21:46213875 C
C
 G
G
 66 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(63): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0008c0013t0016g0043
a0008c0013t0016g0044
 81 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(78): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01981.hp2
HG02055.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18994.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-40G>C
c.1012-40G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46213875
chr21:46213937 C
C
 G
G
 1 a0002c0002t0002g0114
a0002c0002t0002g0114
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1012-102G>C
c.1012-102G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46213937
chr21:46214023 G
G
 A
A
 2 a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0197
a0001c0001t0001g0198
 2 NA19004.hp1
NA19080.hp1
NA19004.hp1
NA19080.hp1
 intron_variant MODIFIER c.1012-188C>T
c.1012-188C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214023
chr21:46214241 G
G
 T
T
 1 a0001c0005t0001g0278
a0001c0005t0001g0278
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1012-406C>A
c.1012-406C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214241
chr21:46214366 G
G
 A
A
 1 a0001c0004t0011g0245
a0001c0004t0011g0245
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1012-531C>T
c.1012-531C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214366
chr21:46214431 G
G
 A
A
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1012-596C>T
c.1012-596C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214431
chr21:46214515 G
G
 C
C
 1 a0001c0004t0011g0245
a0001c0004t0011g0245
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1011+665C>G
c.1011+665C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214515
chr21:46214535 G
G
 A
A
 4 a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
others(1): Show 
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0264
 4 HG02886.hp2
HG02922.hp1
NA18906.hp1
others(1): Show 
HG02886.hp2
HG02922.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.1011+645C>T
c.1011+645C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214535
chr21:46214563 G
G
 A
A
 23 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(20): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
a0002c0018t0002g0046
 30 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(27): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+617C>T
c.1011+617C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214563
chr21:46214585 T
T
 C
C
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+595A>G
c.1011+595A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214585
chr21:46214599 G
G
 A
A
 6 a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
others(3): Show 
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 6 HG01167.hp2
HG02280.hp2
HG02886.hp1
others(3): Show 
HG01167.hp2
HG02280.hp2
HG02886.hp1
HG03098.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.1011+581C>T
c.1011+581C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214599
chr21:46214656 G
G
 C
C
 13 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(10): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 14 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(11): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1011+524C>G
c.1011+524C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214656
chr21:46214658 A
A
 G
G
 201 a0001c0001t0001g0147
a0001c0001t0001g0272
a0001c0001t0001g0276
others(198): Show 
a0001c0001t0001g0147
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0009c0014t0004g0021
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 247 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(244): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+522T>C
c.1011+522T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214658
chr21:46214739 C
C
 G
G
 2 a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0269
a0001c0005t0001g0270
 2 HG02451.hp1
HG02486.hp2
HG02451.hp1
HG02486.hp2
 intron_variant MODIFIER c.1011+441G>C
c.1011+441G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214739
chr21:46214815 C
C
 T
T
 1 a0001c0015t0001g0124
a0001c0015t0001g0124
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1011+365G>A
c.1011+365G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214815
chr21:46214946 GT
GT
 G
G
 25 a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
others(22): Show 
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 29 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(26): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1011+233delA
c.1011+233delA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214946
chr21:46214948 G
G
 A
A
 25 a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
others(22): Show 
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 29 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(26): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1011+232C>T
c.1011+232C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46214948
chr21:46215001 G
G
 A
A
 23 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(20): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
a0002c0018t0002g0046
 30 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(27): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+179C>T
c.1011+179C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 9/21 chr21 46215001
chr21:46215305 G
G
 T
T
 1 a0005c0008t0004g0048
a0005c0008t0004g0048
 1 HG01261.hp1
HG01261.hp1
 splice_region_variant&intron_variant LOW c.893-7C>A
c.893-7C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215305
chr21:46215306 G
G
 A
A
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 splice_region_variant&intron_variant LOW c.893-8C>T
c.893-8C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215306
chr21:46215388 T
T
 TC
TC
 283 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.893-91dupG
c.893-91dupG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215388
chr21:46215536 G
G
 C
C
 1 a0003c0003t0001g0233
a0003c0003t0001g0233
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.892+149C>G
c.892+149C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215536
chr21:46215631 G
G
 A
A
 35 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(32): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0005t0001g0270
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 39 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(36): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.892+54C>T
c.892+54C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215631
chr21:46215663 C
C
 T
T
 4 a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
others(1): Show 
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
 4 HG00140.hp1
HG00741.hp1
HG01346.hp1
others(1): Show 
HG00140.hp1
HG00741.hp1
HG01346.hp1
HG01515.hp1
 intron_variant MODIFIER c.892+22G>A
c.892+22G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 8/21 chr21 46215663
chr21:46215799 G
G
 A
A
 139 a0001c0001t0001g0147
a0001c0004t0003g0003
a0001c0004t0003g0007
others(136): Show 
a0001c0001t0001g0147
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0066
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
 176 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(173): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.784-6C>T
c.784-6C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215799
chr21:46215942 C
C
 G
G
 210 a0001c0001t0001g0147
a0001c0001t0001g0167
a0001c0001t0001g0272
others(207): Show 
a0001c0001t0001g0147
a0001c0001t0001g0167
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 260 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(257): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.784-149G>C
c.784-149G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215942
chr21:46215969 C
C
 T
T
 18 a0001c0005t0001g0277
a0001c0006t0005g0049
a0001c0006t0005g0056
others(15): Show 
a0001c0005t0001g0277
a0001c0006t0005g0049
a0001c0006t0005g0056
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 21 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(18): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02451.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.784-176G>A
c.784-176G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215969
chr21:46215970 G
G
 A
A
 1 a0002c0002t0002g0103
a0002c0002t0002g0103
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.784-177C>T
c.784-177C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215970
chr21:46215985 C
C
 A
A
 1 a0001c0001t0001g0276
a0001c0001t0001g0276
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.784-192G>T
c.784-192G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215985
chr21:46215986 C
C
 G
G
 1 a0001c0001t0001g0276
a0001c0001t0001g0276
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.784-193G>C
c.784-193G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46215986
chr21:46216237 A
A
 G
G
 1 a0001c0004t0003g0141
a0001c0004t0003g0141
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.783+152T>C
c.783+152T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46216237
chr21:46216277 C
C
 T
T
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.783+112G>A
c.783+112G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46216277
chr21:46216359 C
C
 T
T
 1 a0003c0003t0001g0239
a0003c0003t0001g0239
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.783+30G>A
c.783+30G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 7/21 chr21 46216359
chr21:46216613 G
G
 A
A
 1 a0002c0002t0002g0104
a0002c0002t0002g0104
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.648-89C>T
c.648-89C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216613
chr21:46216642 C
C
 T
T
 1 a0001c0006t0008g0249
a0001c0006t0008g0249
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.648-118G>A
c.648-118G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216642
chr21:46216643 G
G
 A
A
 25 a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
others(22): Show 
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 29 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(26): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.648-119C>T
c.648-119C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216643
chr21:46216672 G
G
 A
A
 2 a0001c0001t0001g0200
a0001c0004t0007g0145
a0001c0001t0001g0200
a0001c0004t0007g0145
 2 HG01074.hp1
NA21309.hp1
HG01074.hp1
NA21309.hp1
 intron_variant MODIFIER c.648-148C>T
c.648-148C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216672
chr21:46216702 G
G
 T
T
 2 a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0135
a0001c0004t0003g0136
 2 HG02698.hp1
HG03654.hp1
HG02698.hp1
HG03654.hp1
 intron_variant MODIFIER c.648-178C>A
c.648-178C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216702
chr21:46216764 G
G
 A
A
 3 a0004c0007t0005g0047
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0047
a0004c0007t0005g0054
a0004c0007t0005g0055
 3 HG02451.hp2
HG03098.hp2
NA20129.hp2
HG02451.hp2
HG03098.hp2
NA20129.hp2
 intron_variant MODIFIER c.648-240C>T
c.648-240C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216764
chr21:46216793 C
C
 T
T
 5 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
others(2): Show 
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
 7 HG02486.hp1
HG02622.hp1
HG02976.hp1
others(4): Show 
HG02486.hp1
HG02622.hp1
HG02976.hp1
HG03130.hp1
HG03579.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.648-269G>A
c.648-269G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216793
chr21:46216849 G
G
 C
C
 2 a0002c0002t0002g0105
a0013c0019t0002g0112
a0002c0002t0002g0105
a0013c0019t0002g0112
 2 HG03927.hp1
HG03942.hp1
HG03927.hp1
HG03942.hp1
 intron_variant MODIFIER c.648-325C>G
c.648-325C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46216849
chr21:46217056 G
G
 A
A
 2 a0008c0013t0016g0043
a0008c0013t0016g0044
a0008c0013t0016g0043
a0008c0013t0016g0044
 2 HG03540.hp1
NA19030.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.648-532C>T
c.648-532C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217056
chr21:46217140 G
G
 A
A
 1 a0001c0006t0011g0045
a0001c0006t0011g0045
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.648-616C>T
c.648-616C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217140
chr21:46217243 C
C
 CA
CA
 21 a0001c0001t0001g0157
a0001c0001t0001g0272
a0001c0001t0001g0276
others(18): Show 
a0001c0001t0001g0157
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0004c0007t0005g0055
a0004c0007t0005g0284
a0015c0017t0009g0271
 25 HG01884.hp2
HG01891.hp1
HG02258.hp1
others(22): Show 
HG01884.hp2
HG01891.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA18957.hp2
NA19009.hp2
NA19043.hp2
 intron_variant MODIFIER c.648-720dupT
c.648-720dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217243
chr21:46217255 AAAG
AAAG
 A
A
 5 a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
others(2): Show 
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0265
 7 HG02056.hp1
NA18943.hp1
NA18946.hp1
others(4): Show 
HG02056.hp1
NA18943.hp1
NA18946.hp1
NA18960.hp1
NA18960.hp2
NA18991.hp1
NA19066.hp2
 intron_variant MODIFIER c.648-734_648-732del
others(3): Show 
c.648-734_648-732delCTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217255
chr21:46217256 AAG
AAG
 A
A
 61 a0001c0006t0008g0096
a0002c0002t0002g0002
a0002c0002t0002g0006
others(58): Show 
a0001c0006t0008g0096
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 78 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(75): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp2
NA18944.hp1
NA18951.hp1
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18979.hp1
NA18987.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.648-734_648-733del
others(2): Show 
c.648-734_648-733delCT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217256
chr21:46217257 AG
AG
 A
A
 24 a0001c0001t0001g0147
a0001c0001t0001g0163
a0001c0001t0001g0164
others(21): Show 
a0001c0001t0001g0147
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0241
a0001c0004t0003g0134
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0002c0002t0002g0106
a0002c0002t0002g0109
a0003c0003t0001g0221
a0004c0007t0005g0047
a0007c0010t0014g0266
 25 HG00639.hp2
HG01109.hp1
HG01433.hp2
others(22): Show 
HG00639.hp2
HG01109.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02451.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03195.hp2
HG03710.hp1
HG03710.hp2
HG04184.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18987.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19240.hp1
 intron_variant MODIFIER c.648-734delC
c.648-734delC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217257
chr21:46217258 G
G
 A
A
 190 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(187): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0004c0007t0005g0012
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 243 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(240): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18970.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.648-734C>T
c.648-734C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217258
chr21:46217263 G
G
 A
A
 1 a0001c0004t0011g0246
a0001c0004t0011g0246
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.648-739C>T
c.648-739C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217263
chr21:46217283 A
A
 ACTGTAGG
others(1): Show 
ACTGTAGGT
 71 a0001c0001t0001g0147
a0001c0006t0001g0070
a0001c0006t0008g0096
others(68): Show 
a0001c0001t0001g0147
a0001c0006t0001g0070
a0001c0006t0008g0096
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0211
a0013c0019t0002g0112
a0014c0024t0013g0101
 90 HG00099.hp1
HG00140.hp1
HG00323.hp1
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.648-767_648-760dup
others(8): Show 
c.648-767_648-760dupACCTACAG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217283
chr21:46217286 G
G
 A
A
 2 a0001c0004t0003g0026
a0001c0004t0003g0141
a0001c0004t0003g0026
a0001c0004t0003g0141
 3 NA18957.hp2
NA19065.hp2
NA19070.hp1
NA18957.hp2
NA19065.hp2
NA19070.hp1
 intron_variant MODIFIER c.648-762C>T
c.648-762C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217286
chr21:46217360 T
T
 C
C
 1 a0001c0001t0020g0201
a0001c0001t0020g0201
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.648-836A>G
c.648-836A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217360
chr21:46217502 C
C
 A
A
 3 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0243
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0243
 5 HG02486.hp1
HG02622.hp1
HG03130.hp1
others(2): Show 
HG02486.hp1
HG02622.hp1
HG03130.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.648-978G>T
c.648-978G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217502
chr21:46217555 T
T
 C
C
 1 a0003c0003t0001g0233
a0003c0003t0001g0233
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.648-1031A>G
c.648-1031A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217555
chr21:46217555 T
T
 TC
TC
 3 a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
 3 HG00544.hp2
NA18975.hp2
NA19012.hp1
HG00544.hp2
NA18975.hp2
NA19012.hp1
 intron_variant MODIFIER c.648-1032dupG
c.648-1032dupG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217555
chr21:46217586 C
C
 T
T
 4 a0001c0001t0001g0129
a0001c0001t0001g0151
a0001c0001t0001g0162
others(1): Show 
a0001c0001t0001g0129
a0001c0001t0001g0151
a0001c0001t0001g0162
a0001c0001t0001g0205
 4 HG00423.hp1
HG02040.hp2
HG02135.hp1
others(1): Show 
HG00423.hp1
HG02040.hp2
HG02135.hp1
NA18612.hp1
 intron_variant MODIFIER c.648-1062G>A
c.648-1062G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217586
chr21:46217675 C
C
 T
T
 5 a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0159
others(2): Show 
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
 5 NA18951.hp2
NA18989.hp1
NA18994.hp2
others(2): Show 
NA18951.hp2
NA18989.hp1
NA18994.hp2
NA18998.hp2
NA19005.hp2
 intron_variant MODIFIER c.648-1151G>A
c.648-1151G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217675
chr21:46217829 C
C
 T
T
 1 a0002c0002t0002g0072
a0002c0002t0002g0072
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.648-1305G>A
c.648-1305G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217829
chr21:46217846 C
C
 T
T
 127 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(124): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0071
a0002c0018t0002g0046
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 166 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(163): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00642.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.648-1322G>A
c.648-1322G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217846
chr21:46217853 T
T
 C
C
 62 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(59): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0069
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0009c0014t0004g0021
a0015c0017t0009g0271
 74 HG00639.hp2
HG01069.hp1
HG01069.hp2
others(71): Show 
HG00639.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02055.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG03942.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.648-1329A>G
c.648-1329A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217853
chr21:46217990 A
A
 G
G
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.648-1466T>C
c.648-1466T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217990
chr21:46217992 C
C
 T
T
 3 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
 3 HG01109.hp1
HG02615.hp1
HG03139.hp1
HG01109.hp1
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.648-1468G>A
c.648-1468G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46217992
chr21:46218065 C
C
 T
T
 2 a0003c0003t0001g0037
a0003c0003t0001g0243
a0003c0003t0001g0037
a0003c0003t0001g0243
 3 HG02486.hp1
NA18906.hp2
NA21309.hp2
HG02486.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.647+1411G>A
c.647+1411G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218065
chr21:46218105 C
C
 T
T
 24 a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
others(21): Show 
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 28 HG00280.hp2
HG00558.hp1
HG00738.hp1
others(25): Show 
HG00280.hp2
HG00558.hp1
HG00738.hp1
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.647+1371G>A
c.647+1371G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218105
chr21:46218114 G
G
 A
A
 1 a0001c0009t0004g0126
a0001c0009t0004g0126
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.647+1362C>T
c.647+1362C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218114
chr21:46218166 T
T
 C
C
 1 a0002c0002t0002g0118
a0002c0002t0002g0118
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.647+1310A>G
c.647+1310A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218166
chr21:46218278 G
G
 A
A
 2 a0004c0007t0005g0047
a0004c0007t0005g0055
a0004c0007t0005g0047
a0004c0007t0005g0055
 2 HG02451.hp2
HG03098.hp2
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.647+1198C>T
c.647+1198C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218278
chr21:46218332 C
C
 CAAGACAC
others(6): Show 
CAAGACACTGGTTA
 197 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 251 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(248): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.647+1143_647+1144i
others(15): Show 
c.647+1143_647+1144insTAACCAGTGTCTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218332
chr21:46218480 T
T
 C
C
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.647+996A>G
c.647+996A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218480
chr21:46218549 A
A
 G
G
 219 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(216): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0013
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 275 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.647+927T>C
c.647+927T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218549
chr21:46218588 C
C
 A
A
 3 a0003c0003t0001g0035
a0003c0003t0001g0235
a0003c0003t0027g0234
a0003c0003t0001g0035
a0003c0003t0001g0235
a0003c0003t0027g0234
 4 NA18954.hp1
NA18959.hp2
NA18999.hp1
others(1): Show 
NA18954.hp1
NA18959.hp2
NA18999.hp1
NA19056.hp2
 intron_variant MODIFIER c.647+888G>T
c.647+888G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218588
chr21:46218633 C
C
 G
G
 1 a0003c0003t0001g0036
a0003c0003t0001g0036
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.647+843G>C
c.647+843G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218633
chr21:46218727 C
C
 CT
CT
 22 a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
others(19): Show 
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0006t0005g0049
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
 25 HG01069.hp1
HG01071.hp1
HG01099.hp1
others(22): Show 
HG01069.hp1
HG01071.hp1
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01891.hp2
HG02451.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
NA18522.hp2
NA18906.hp1
NA18949.hp2
NA18978.hp1
NA18991.hp2
NA18994.hp2
NA19009.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.647+748dupA
c.647+748dupA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218727
chr21:46218958 C
C
 T
T
 23 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(20): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
a0002c0018t0002g0046
 30 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(27): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.647+518G>A
c.647+518G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218958
chr21:46218976 C
C
 T
T
 1 a0001c0006t0011g0045
a0001c0006t0011g0045
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.647+500G>A
c.647+500G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46218976
chr21:46219186 G
G
 A
A
 1 a0003c0003t0001g0236
a0003c0003t0001g0236
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.647+290C>T
c.647+290C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46219186
chr21:46219280 A
A
 G
G
 1 a0003c0003t0001g0036
a0003c0003t0001g0036
 2 HG02622.hp1
HG03130.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.647+196T>C
c.647+196T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46219280
chr21:46219444 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.647+32G>A
c.647+32G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 6/21 chr21 46219444
chr21:46219578 C
C
 G
G
 157 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(154): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 204 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(201): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.551-6G>C
c.551-6G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219578
chr21:46219634 C
C
 T
T
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.551-62G>A
c.551-62G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219634
chr21:46219692 C
C
 T
T
 1 a0004c0007t0005g0047
a0004c0007t0005g0047
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.551-120G>A
c.551-120G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219692
chr21:46219700 T
T
 C
C
 1 a0003c0003t0001g0237
a0003c0003t0001g0237
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.551-128A>G
c.551-128A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219700
chr21:46219711 C
C
 T
T
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.551-139G>A
c.551-139G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219711
chr21:46219824 G
G
 C
C
 1 a0003c0003t0001g0237
a0003c0003t0001g0237
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.551-252C>G
c.551-252C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219824
chr21:46219898 C
C
 T
T
 1 a0003c0003t0001g0225
a0003c0003t0001g0225
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.551-326G>A
c.551-326G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219898
chr21:46219908 C
C
 T
T
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.551-336G>A
c.551-336G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219908
chr21:46219962 G
G
 A
A
 23 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(20): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0026g0138
a0002c0018t0002g0046
 30 HG00140.hp2
HG00323.hp2
HG00597.hp2
others(27): Show 
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG02523.hp1
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp2
NA18949.hp1
NA18957.hp2
NA18994.hp1
NA19065.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.551-390C>T
c.551-390C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46219962
chr21:46220078 G
G
 A
A
 153 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(150): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 200 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(197): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.551-506C>T
c.551-506C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220078
chr21:46220082 C
C
 T
T
 1 a0002c0002t0002g0066
a0002c0002t0002g0066
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.551-510G>A
c.551-510G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220082
chr21:46220175 C
C
 G
G
 3 a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
 3 HG00423.hp2
HG02056.hp2
HG02074.hp2
HG00423.hp2
HG02056.hp2
HG02074.hp2
 intron_variant MODIFIER c.551-603G>C
c.551-603G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220175
chr21:46220256 C
C
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.551-684G>A
c.551-684G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220256
chr21:46220445 G
G
 C
C
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.551-873C>G
c.551-873C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220445
chr21:46220524 T
T
 C
C
 13 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(10): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 14 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(11): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03710.hp1
HG03942.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.551-952A>G
c.551-952A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220524
chr21:46220657 A
A
 G
G
 213 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(210): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 268 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.551-1085T>C
c.551-1085T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220657
chr21:46220733 A
A
 AGGAGAGG
others(16): Show 
AGGAGAGGTAGCCAGGCCGGGCAT
 1 a0002c0012t0002g0020
a0002c0012t0002g0020
 2 NA18979.hp1
NA19068.hp2
NA18979.hp1
NA19068.hp2
 intron_variant MODIFIER c.550+1098_550+1120d
others(25): Show 
c.550+1098_550+1120dupATGCCCGGCCTGGCTACCTCTCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220733
chr21:46220733 AGGAGAGG
others(16): Show 
AGGAGAGGTAGCCAGGCCGGGCAT
 A
A
 16 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(13): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 17 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(14): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02280.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02886.hp1
HG02970.hp1
HG03041.hp1
HG03195.hp2
HG03710.hp1
HG03942.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.550+1098_550+1120d
others(25): Show 
c.550+1098_550+1120delATGCCCGGCCTGGCTACCTCTCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220733
chr21:46220758 G
G
 A
A
 1 a0002c0002t0002g0110
a0002c0002t0002g0110
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.550+1096C>T
c.550+1096C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220758
chr21:46220798 C
C
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.550+1056G>A
c.550+1056G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46220798
chr21:46221054 AGGGCTTG
others(16): Show 
AGGGCTTGGAGAAGTAGACAGTTG
 A
A
 1 a0001c0004t0003g0142
a0001c0004t0003g0142
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.550+777_550+799del
others(23): Show 
c.550+777_550+799delCAACTGTCTACTTCTCCAAGCCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221054
chr21:46221066 A
A
 G
G
 156 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(153): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 203 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(200): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.550+788T>C
c.550+788T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221066
chr21:46221126 G
G
 GGGGCTTG
others(17): Show 
GGGGCTTGGAGAGGTGGACAGCCCC
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.550+704_550+727dup
others(24): Show 
c.550+704_550+727dupGGGGCTGTCCACCTCTCCAAGCCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221126
chr21:46221126 GGGGCTTG
others(17): Show 
GGGGCTTGGAGAGGTGGACAGCCCC
 G
G
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.550+704_550+727del
others(24): Show 
c.550+704_550+727delGGGGCTGTCCACCTCTCCAAGCCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221126
chr21:46221258 G
G
 A
A
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.550+596C>T
c.550+596C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221258
chr21:46221263 C
C
 A
A
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.550+591G>T
c.550+591G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221263
chr21:46221282 G
G
 A
A
 84 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(81): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0007g0145
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 116 HG00099.hp2
HG00280.hp1
HG00423.hp1
others(113): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00642.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03209.hp1
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA21309.hp1
 intron_variant MODIFIER c.550+572C>T
c.550+572C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221282
chr21:46221362 C
C
 CTTT
CTTT
 282 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(279): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
a0016c0026t0001g0199
 356 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(353): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.550+489_550+491dup
others(3): Show 
c.550+489_550+491dupAAA
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221362
chr21:46221412 G
G
 A
A
 153 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(150): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 200 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(197): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.550+442C>T
c.550+442C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221412
chr21:46221459 T
T
 A
A
 153 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(150): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0016c0026t0001g0199
 200 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(197): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.550+395A>T
c.550+395A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221459
chr21:46221577 C
C
 T
T
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.550+277G>A
c.550+277G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221577
chr21:46221638 G
G
 C
C
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.550+216C>G
c.550+216C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221638
chr21:46221786 G
G
 T
T
 214 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
others(211): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0210
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0001t0017g0179
a0001c0001t0017g0182
a0001c0001t0020g0201
a0001c0001t0023g0193
a0001c0001t0028g0185
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0007g0145
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0001c0015t0001g0124
a0001c0015t0025g0183
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0011c0020t0001g0173
a0012c0022t0001g0188
a0015c0017t0009g0271
a0016c0026t0001g0199
 269 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
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
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
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.550+68C>A
c.550+68C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 5/21 chr21 46221786
chr21:46222082 C
C
 G
G
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.429-107G>C
c.429-107G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222082
chr21:46222102 C
C
 T
T
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.429-127G>A
c.429-127G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222102
chr21:46222123 C
C
 G
G
 1 a0001c0006t0007g0256
a0001c0006t0007g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.429-148G>C
c.429-148G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222123
chr21:46222139 C
C
 T
T
 2 a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0132
a0001c0004t0003g0133
 2 HG00597.hp2
HG02523.hp1
HG00597.hp2
HG02523.hp1
 intron_variant MODIFIER c.429-164G>A
c.429-164G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222139
chr21:46222358 C
C
 T
T
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.428+272G>A
c.428+272G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222358
chr21:46222372 A
A
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.428+258T>C
c.428+258T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222372
chr21:46222409 C
C
 G
G
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.428+221G>C
c.428+221G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222409
chr21:46222467 C
C
 T
T
 1 a0001c0004t0007g0145
a0001c0004t0007g0145
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.428+163G>A
c.428+163G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222467
chr21:46222483 C
C
 T
T
 69 a0001c0006t0001g0070
a0001c0006t0008g0096
a0002c0002t0002g0002
others(66): Show 
a0001c0006t0001g0070
a0001c0006t0008g0096
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0013c0019t0002g0112
a0014c0024t0013g0101
 88 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(85): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.428+147G>A
c.428+147G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222483
chr21:46222500 C
C
 T
T
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.428+130G>A
c.428+130G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 4/21 chr21 46222500
chr21:46222899 T
T
 G
G
 1 a0002c0002t0002g0064
a0002c0002t0002g0064
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.320-161A>C
c.320-161A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46222899
chr21:46222903 G
G
 T
T
 2 a0002c0002t0002g0013
a0002c0002t0002g0065
a0002c0002t0002g0013
a0002c0002t0002g0065
 3 HG01975.hp1
HG03704.hp1
NA20752.hp1
HG01975.hp1
HG03704.hp1
NA20752.hp1
 intron_variant MODIFIER c.320-165C>A
c.320-165C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46222903
chr21:46222908 G
G
 C
C
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.320-170C>G
c.320-170C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46222908
chr21:46223000 A
A
 T
T
 204 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(201): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0260
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 250 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(247): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.320-262T>A
c.320-262T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223000
chr21:46223077 C
C
 A
A
 1 a0001c0004t0003g0143
a0001c0004t0003g0143
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.320-339G>T
c.320-339G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223077
chr21:46223119 G
G
 A
A
 2 a0001c0004t0003g0130
a0001c0004t0003g0144
a0001c0004t0003g0130
a0001c0004t0003g0144
 2 HG02922.hp2
NA20300.hp2
HG02922.hp2
NA20300.hp2
 intron_variant MODIFIER c.320-381C>T
c.320-381C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223119
chr21:46223254 G
G
 A
A
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.320-516C>T
c.320-516C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223254
chr21:46223468 A
A
 G
G
 42 a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
others(39): Show 
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
 50 HG00099.hp1
HG00280.hp2
HG00558.hp1
others(47): Show 
HG00099.hp1
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.320-730T>C
c.320-730T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223468
chr21:46223528 G
G
 A
A
 69 a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
others(66): Show 
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0026g0138
a0002c0018t0002g0046
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0008c0013t0016g0043
a0008c0013t0016g0044
 84 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(81): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01981.hp2
HG02055.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18994.hp1
NA18999.hp1
NA19030.hp2
NA19056.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.320-790C>T
c.320-790C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223528
chr21:46223552 G
G
 A
A
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.320-814C>T
c.320-814C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223552
chr21:46223552 G
G
 C
C
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.320-814C>G
c.320-814C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223552
chr21:46223670 T
T
 C
C
 1 a0013c0019t0002g0112
a0013c0019t0002g0112
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.320-932A>G
c.320-932A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223670
chr21:46223695 AC
AC
 A
A
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.320-958delG
c.320-958delG
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223695
chr21:46223749 G
G
 A
A
 1 a0003c0003t0001g0239
a0003c0003t0001g0239
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.320-1011C>T
c.320-1011C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223749
chr21:46223770 G
G
 A
A
 6 a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
others(3): Show 
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
 7 HG01884.hp1
HG02630.hp1
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG03041.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.320-1032C>T
c.320-1032C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223770
chr21:46223845 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.320-1107G>A
c.320-1107G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223845
chr21:46223856 G
G
 C
C
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.320-1118C>G
c.320-1118C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223856
chr21:46223874 C
C
 T
T
 1 a0001c0004t0003g0130
a0001c0004t0003g0130
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.320-1136G>A
c.320-1136G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223874
chr21:46223919 C
C
 G
G
 2 a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0273
a0001c0005t0009g0274
 2 HG02258.hp1
HG03486.hp2
HG02258.hp1
HG03486.hp2
 intron_variant MODIFIER c.320-1181G>C
c.320-1181G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46223919
chr21:46224098 T
T
 C
C
 2 a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0057
a0005c0008t0004g0058
 2 HG01099.hp1
NA20752.hp2
HG01099.hp1
NA20752.hp2
 intron_variant MODIFIER c.320-1360A>G
c.320-1360A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224098
chr21:46224116 A
A
 G
G
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.320-1378T>C
c.320-1378T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224116
chr21:46224178 G
G
 T
T
 125 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(122): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 152 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(149): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.320-1440C>A
c.320-1440C>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224178
chr21:46224255 C
C
 T
T
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.320-1517G>A
c.320-1517G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224255
chr21:46224276 A
A
 G
G
 1 a0001c0006t0007g0248
a0001c0006t0007g0248
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.320-1538T>C
c.320-1538T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224276
chr21:46224365 G
G
 A
A
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.320-1627C>T
c.320-1627C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224365
chr21:46224406 A
A
 T
T
 1 a0003c0003t0001g0224
a0003c0003t0001g0224
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.320-1668T>A
c.320-1668T>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224406
chr21:46224407 T
T
 G
G
 1 a0003c0003t0001g0224
a0003c0003t0001g0224
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.320-1669A>C
c.320-1669A>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224407
chr21:46224408 C
C
 G
G
 1 a0003c0003t0001g0224
a0003c0003t0001g0224
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.320-1670G>C
c.320-1670G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224408
chr21:46224409 T
T
 C
C
 1 a0003c0003t0001g0224
a0003c0003t0001g0224
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.320-1671A>G
c.320-1671A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224409
chr21:46224420 C
C
 T
T
 209 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(206): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0010c0027t0006g0263
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 259 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.320-1682G>A
c.320-1682G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224420
chr21:46224438 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.320-1700G>A
c.320-1700G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224438
chr21:46224489 C
C
 T
T
 1 a0001c0004t0012g0206
a0001c0004t0012g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.320-1751G>A
c.320-1751G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224489
chr21:46224514 A
A
 G
G
 203 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
others(200): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0003g0003
a0001c0004t0003g0007
a0001c0004t0003g0025
a0001c0004t0003g0026
a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0130
a0001c0004t0003g0132
a0001c0004t0003g0133
a0001c0004t0003g0134
a0001c0004t0003g0135
a0001c0004t0003g0136
a0001c0004t0003g0137
a0001c0004t0003g0139
a0001c0004t0003g0140
a0001c0004t0003g0141
a0001c0004t0003g0142
a0001c0004t0003g0143
a0001c0004t0003g0144
a0001c0004t0003g0238
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
a0001c0004t0019g0251
a0001c0004t0026g0138
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0018t0002g0046
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0009
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0131
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0009c0014t0004g0021
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 249 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(246): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18991.hp1
NA18994.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.320-1776T>C
c.320-1776T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224514
chr21:46224753 T
T
 C
C
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.320-2015A>G
c.320-2015A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224753
chr21:46224800 C
C
 G
G
 1 a0001c0001t0001g0129
a0001c0001t0001g0129
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.320-2062G>C
c.320-2062G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224800
chr21:46224894 G
G
 GA
GA
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.320-2157dupT
c.320-2157dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46224894
chr21:46225085 T
T
 C
C
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.320-2347A>G
c.320-2347A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225085
chr21:46225089 T
T
 C
C
 1 a0002c0002t0002g0113
a0002c0002t0002g0113
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.320-2351A>G
c.320-2351A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225089
chr21:46225123 A
A
 G
G
 2 a0001c0001t0001g0272
a0015c0017t0009g0271
a0001c0001t0001g0272
a0015c0017t0009g0271
 2 HG03041.hp2
HG03130.hp2
HG03041.hp2
HG03130.hp2
 intron_variant MODIFIER c.320-2385T>C
c.320-2385T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225123
chr21:46225173 C
C
 G
G
 2 a0001c0004t0003g0127
a0001c0004t0003g0128
a0001c0004t0003g0127
a0001c0004t0003g0128
 2 HG00323.hp2
HG01109.hp2
HG00323.hp2
HG01109.hp2
 intron_variant MODIFIER c.319+2379G>C
c.319+2379G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225173
chr21:46225199 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.319+2353G>A
c.319+2353G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225199
chr21:46225282 A
A
 C
C
 1 a0002c0002t0002g0064
a0002c0002t0002g0064
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.319+2270T>G
c.319+2270T>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225282
chr21:46225362 A
A
 AGGCCCGT
others(28): Show 
AGGCCCGTTGCCAAGCGGACCCAACCGTGGTCTAGC
 3 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0243
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0243
 5 HG02486.hp1
HG02622.hp1
HG03130.hp1
others(2): Show 
HG02486.hp1
HG02622.hp1
HG03130.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.319+2155_319+2189d
others(37): Show 
c.319+2155_319+2189dupGCTAGACCACGGTTGGGTCCGCTTGGCA
ACGGGCC
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225362
chr21:46225407 A
A
 G
G
 1 a0001c0004t0003g0259
a0001c0004t0003g0259
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.319+2145T>C
c.319+2145T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225407
chr21:46225427 G
G
 A
A
 1 a0002c0002t0002g0114
a0002c0002t0002g0114
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.319+2125C>T
c.319+2125C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225427
chr21:46225494 C
C
 T
T
 1 a0001c0006t0007g0247
a0001c0006t0007g0247
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.319+2058G>A
c.319+2058G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225494
chr21:46225498 C
C
 T
T
 17 a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
others(14): Show 
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
 18 HG00639.hp2
HG01109.hp1
HG01433.hp2
others(15): Show 
HG00639.hp2
HG01109.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03540.hp2
HG03710.hp1
HG03942.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.319+2054G>A
c.319+2054G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225498
chr21:46225568 T
T
 C
C
 4 a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
others(1): Show 
a0001c0004t0012g0206
a0001c0004t0012g0207
a0001c0004t0012g0208
a0001c0004t0012g0209
 4 HG02055.hp2
HG02895.hp1
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 intron_variant MODIFIER c.319+1984A>G
c.319+1984A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225568
chr21:46225706 T
T
 C
C
 2 a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0219
a0003c0003t0001g0220
 2 HG02976.hp1
HG03579.hp1
HG02976.hp1
HG03579.hp1
 intron_variant MODIFIER c.319+1846A>G
c.319+1846A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225706
chr21:46225738 G
G
 A
A
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.319+1814C>T
c.319+1814C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225738
chr21:46225756 A
A
 G
G
 129 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(126): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 156 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(153): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.319+1796T>C
c.319+1796T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225756
chr21:46225860 C
C
 T
T
 6 a0001c0005t0001g0269
a0001c0005t0001g0270
a0003c0003t0001g0221
others(3): Show 
a0001c0005t0001g0269
a0001c0005t0001g0270
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
 6 HG02451.hp1
HG02486.hp2
HG04115.hp2
others(3): Show 
HG02451.hp1
HG02486.hp2
HG04115.hp2
HG04184.hp2
NA18944.hp2
NA18978.hp2
 intron_variant MODIFIER c.319+1692G>A
c.319+1692G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225860
chr21:46225881 A
A
 G
G
 1 a0002c0002t0002g0063
a0002c0002t0002g0063
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.319+1671T>C
c.319+1671T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225881
chr21:46225911 G
G
 C
C
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.319+1641C>G
c.319+1641C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225911
chr21:46225913 C
C
 T
T
 5 a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
others(2): Show 
a0001c0009t0004g0022
a0001c0009t0004g0023
a0001c0009t0004g0024
a0001c0009t0004g0126
a0009c0014t0004g0021
 9 HG01257.hp2
HG01258.hp1
HG02559.hp1
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp1
HG02572.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.319+1639G>A
c.319+1639G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46225913
chr21:46226006 G
G
 A
A
 7 a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
others(4): Show 
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
 9 HG00099.hp1
HG01361.hp1
HG01981.hp2
others(6): Show 
HG00099.hp1
HG01361.hp1
HG01981.hp2
HG02683.hp1
HG02735.hp2
HG02896.hp1
HG03239.hp1
HG03688.hp1
HG04184.hp1
 intron_variant MODIFIER c.319+1546C>T
c.319+1546C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226006
chr21:46226056 G
G
 C
C
 142 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
others(139): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0001c0006t0011g0045
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0032
a0003c0003t0001g0033
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0008c0013t0016g0043
a0008c0013t0016g0044
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 173 HG00099.hp1
HG00140.hp1
HG00323.hp1
others(170): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.319+1496C>G
c.319+1496C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226056
chr21:46226114 G
G
 A
A
 1 a0003c0003t0001g0242
a0003c0003t0001g0242
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.319+1438C>T
c.319+1438C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226114
chr21:46226124 G
G
 A
A
 8 a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
others(5): Show 
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0243
a0006c0011t0001g0216
a0006c0011t0001g0217
a0006c0011t0001g0218
 10 HG01167.hp2
HG02486.hp1
HG02622.hp1
others(7): Show 
HG01167.hp2
HG02486.hp1
HG02622.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.319+1428C>T
c.319+1428C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226124
chr21:46226127 C
C
 T
T
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.319+1425G>A
c.319+1425G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226127
chr21:46226135 C
C
 CA
CA
 30 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0004t0003g0238
others(27): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0004t0003g0238
a0003c0003t0001g0009
a0003c0003t0001g0034
a0003c0003t0001g0035
a0003c0003t0001g0036
a0003c0003t0001g0037
a0003c0003t0001g0117
a0003c0003t0001g0221
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0224
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0233
a0003c0003t0001g0235
a0003c0003t0001g0236
a0003c0003t0001g0237
a0003c0003t0001g0239
a0003c0003t0001g0242
a0003c0003t0001g0243
a0003c0003t0015g0226
a0003c0003t0015g0231
a0003c0003t0018g0041
a0003c0003t0027g0234
 36 HG00280.hp2
HG00558.hp1
HG00609.hp1
others(33): Show 
HG00280.hp2
HG00558.hp1
HG00609.hp1
HG00738.hp1
HG01123.hp1
HG01256.hp2
HG01261.hp2
HG02129.hp2
HG02148.hp2
HG02486.hp1
HG02622.hp1
HG03130.hp1
HG03239.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18978.hp2
NA18986.hp1
NA18987.hp2
NA18999.hp1
NA19056.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.319+1416dupT
c.319+1416dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226135
chr21:46226135 CA
CA
 C
C
 121 a0001c0001t0001g0125
a0001c0001t0001g0272
a0001c0001t0001g0276
others(118): Show 
a0001c0001t0001g0125
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0004t0019g0251
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0096
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0023t0002g0095
a0002c0025t0002g0102
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 148 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(145): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.319+1416delT
c.319+1416delT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226135
chr21:46226135 CAA
CAA
 C
C
 7 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(4): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0001c0006t0011g0045
a0002c0002t0002g0061
a0002c0002t0021g0062
 7 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(4): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
HG03017.hp1
HG03017.hp2
HG03540.hp2
NA20805.hp2
 intron_variant MODIFIER c.319+1415_319+1416d
others(4): Show 
c.319+1415_319+1416delTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226135
chr21:46226531 G
G
 C
C
 1 a0002c0002t0002g0118
a0002c0002t0002g0118
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.319+1021C>G
c.319+1021C>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226531
chr21:46226726 C
C
 A
A
 4 a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
others(1): Show 
a0001c0004t0011g0244
a0001c0004t0011g0245
a0001c0004t0011g0246
a0001c0006t0011g0045
 4 HG01109.hp1
HG02615.hp1
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG03540.hp2
 intron_variant MODIFIER c.319+826G>T
c.319+826G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226726
chr21:46226869 C
C
 T
T
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.319+683G>A
c.319+683G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226869
chr21:46226870 G
G
 A
A
 2 a0004c0007t0005g0012
a0004c0007t0005g0059
a0004c0007t0005g0012
a0004c0007t0005g0059
 3 HG02622.hp2
HG02647.hp1
NA18522.hp2
HG02622.hp2
HG02647.hp1
NA18522.hp2
 intron_variant MODIFIER c.319+682C>T
c.319+682C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226870
chr21:46226982 C
C
 T
T
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.319+570G>A
c.319+570G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46226982
chr21:46227038 T
T
 C
C
 1 a0005c0008t0004g0060
a0005c0008t0004g0060
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.319+514A>G
c.319+514A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227038
chr21:46227104 C
C
 T
T
 1 a0001c0015t0001g0124
a0001c0015t0001g0124
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.319+448G>A
c.319+448G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227104
chr21:46227113 T
T
 C
C
 14 a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
others(11): Show 
a0001c0004t0003g0259
a0001c0004t0008g0250
a0001c0004t0008g0252
a0001c0004t0008g0255
a0001c0004t0019g0251
a0001c0006t0007g0038
a0001c0006t0007g0247
a0001c0006t0007g0248
a0001c0006t0007g0256
a0001c0006t0007g0257
a0001c0006t0007g0258
a0001c0006t0008g0249
a0001c0006t0008g0253
a0001c0006t0008g0254
 15 HG00639.hp2
HG01433.hp2
HG01515.hp2
others(12): Show 
HG00639.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02970.hp1
HG03041.hp1
HG03669.hp1
HG03710.hp1
HG03942.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.319+439A>G
c.319+439A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227113
chr21:46227163 G
G
 A
A
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.319+389C>T
c.319+389C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227163
chr21:46227346 G
G
 A
A
 1 a0002c0002t0002g0119
a0002c0002t0002g0119
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.319+206C>T
c.319+206C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227346
chr21:46227468 T
T
 A
A
 70 a0001c0006t0001g0070
a0001c0006t0008g0096
a0002c0002t0002g0002
others(67): Show 
a0001c0006t0001g0070
a0001c0006t0008g0096
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0117
a0013c0019t0002g0112
a0014c0024t0013g0101
 89 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(86): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02273.hp1
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.319+84A>T
c.319+84A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227468
chr21:46227525 C
C
 A
A
 4 a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
others(1): Show 
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
 4 HG01069.hp2
HG01106.hp2
HG01192.hp2
others(1): Show 
HG01069.hp2
HG01106.hp2
HG01192.hp2
NA20805.hp2
 intron_variant MODIFIER c.319+27G>T
c.319+27G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 3/21 chr21 46227525
chr21:46227704 G
G
 GA
GA
 6 a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
others(3): Show 
a0001c0005t0006g0004
a0001c0005t0006g0039
a0001c0005t0006g0260
a0001c0005t0006g0261
a0001c0005t0006g0262
a0010c0027t0006g0263
 10 HG02698.hp2
HG03491.hp1
HG03492.hp1
others(7): Show 
HG02698.hp2
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18965.hp2
 intron_variant MODIFIER c.181-15dupT
c.181-15dupT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46227704
chr21:46227704 GAA
GAA
 G
G
 113 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(110): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0001c0006t0001g0070
a0001c0006t0005g0049
a0001c0006t0005g0056
a0001c0006t0008g0096
a0001c0006t0010g0120
a0001c0006t0010g0121
a0001c0006t0010g0122
a0001c0006t0010g0123
a0002c0002t0002g0002
a0002c0002t0002g0006
a0002c0002t0002g0013
a0002c0002t0002g0014
a0002c0002t0002g0015
a0002c0002t0002g0016
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0019
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0073
a0002c0002t0002g0074
a0002c0002t0002g0075
a0002c0002t0002g0076
a0002c0002t0002g0077
a0002c0002t0002g0078
a0002c0002t0002g0079
a0002c0002t0002g0080
a0002c0002t0002g0083
a0002c0002t0002g0086
a0002c0002t0002g0087
a0002c0002t0002g0088
a0002c0002t0002g0089
a0002c0002t0002g0091
a0002c0002t0002g0093
a0002c0002t0002g0094
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0103
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0113
a0002c0002t0002g0114
a0002c0002t0002g0115
a0002c0002t0002g0118
a0002c0002t0002g0119
a0002c0002t0002g0265
a0002c0002t0013g0084
a0002c0002t0013g0085
a0002c0002t0021g0062
a0002c0002t0022g0081
a0002c0002t0029g0082
a0002c0012t0002g0020
a0002c0012t0002g0111
a0002c0016t0002g0090
a0002c0016t0002g0092
a0002c0021t0002g0116
a0002c0023t0002g0095
a0002c0025t0002g0102
a0003c0003t0001g0117
a0004c0007t0005g0012
a0004c0007t0005g0047
a0004c0007t0005g0051
a0004c0007t0005g0052
a0004c0007t0005g0053
a0004c0007t0005g0054
a0004c0007t0005g0055
a0004c0007t0005g0059
a0004c0007t0005g0264
a0004c0007t0005g0284
a0005c0008t0004g0010
a0005c0008t0004g0011
a0005c0008t0004g0048
a0005c0008t0004g0050
a0005c0008t0004g0057
a0005c0008t0004g0058
a0005c0008t0004g0060
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0013c0019t0002g0112
a0014c0024t0013g0101
a0015c0017t0009g0271
 139 HG00140.hp1
HG00323.hp1
HG00544.hp2
others(136): Show 
HG00140.hp1
HG00323.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18951.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18987.hp1
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19072.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.181-16_181-15delTT
c.181-16_181-15delTT
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46227704
chr21:46228083 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.180+351C>T
c.180+351C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228083
chr21:46228084 C
C
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.180+350G>T
c.180+350G>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228084
chr21:46228187 C
C
 G
G
 1 a0002c0018t0002g0046
a0002c0018t0002g0046
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.180+247G>C
c.180+247G>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228187
chr21:46228189 T
T
 C
C
 1 a0004c0007t0005g0264
a0004c0007t0005g0264
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.180+245A>G
c.180+245A>G
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228189
chr21:46228244 T
T
 A
A
 1 a0002c0002t0002g0265
a0002c0002t0002g0265
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.180+190A>T
c.180+190A>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228244
chr21:46228274 G
G
 A
A
 3 a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
a0007c0010t0014g0266
a0007c0010t0014g0267
a0007c0010t0014g0268
 3 HG02280.hp2
HG02886.hp1
HG03195.hp2
HG02280.hp2
HG02886.hp1
HG03195.hp2
 intron_variant MODIFIER c.180+160C>T
c.180+160C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228274
chr21:46228310 G
G
 A
A
 18 a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
others(15): Show 
a0001c0001t0001g0272
a0001c0001t0001g0276
a0001c0005t0001g0005
a0001c0005t0001g0040
a0001c0005t0001g0269
a0001c0005t0001g0270
a0001c0005t0001g0277
a0001c0005t0001g0278
a0001c0005t0001g0279
a0001c0005t0001g0282
a0001c0005t0001g0283
a0001c0005t0009g0273
a0001c0005t0009g0274
a0001c0005t0009g0280
a0001c0005t0009g0281
a0001c0005t0024g0275
a0004c0007t0005g0284
a0015c0017t0009g0271
 22 HG01884.hp2
HG01891.hp1
HG01978.hp1
others(19): Show 
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.180+124C>T
c.180+124C>T
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228310
chr21:46228337 C
C
 T
T
 1 a0001c0006t0011g0045
a0001c0006t0011g0045
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.180+97G>A
c.180+97G>A
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 2/21 chr21 46228337
chr21:46228690 A
A
 G
G
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.14+42T>C
c.14+42T>C
LSS ENSG00000160285.15 transcript ENST00000397728.8 protein_coding 1/21 chr21 46228690

  • 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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