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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SON_chr21_33538038_33582481  SON_chr21_33538038_33582481 (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 6651
ensemblid ENSG00000159140.23
hgncid 11183
symbol SON
name SON DNA and RNA binding protein
refseq_nuc NM_138927.4
refseq_prot NP_620305.3
ensembl_nuc ENST00000356577.10
ensembl_prot ENSP00000348984.4
mane_status MANE Select
chr chr21
start 33543038
end 33577481
strand +
ver v1.2
region chr21:33543038-33577481
region5000 chr21:33538038-33582481
regionname0 SON_chr21_33543038_33577481
regionname5000 SON_chr21_33538038_33582481

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 2426 221 57 35 99 6 24 82 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0002 0/0 2426 53 9 4 37 0 3 29 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003 0/1 2426 31 5 6 7 4 8 6 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0004 0/0 2426 13 11 2 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005 0/0 2419 10 1 4 4 0 1 3 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0006 0/0 2426 7 0 7 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0007 0/0 2419 5 0 3 1 1 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008 0/0 2433 4 1 0 2 1 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0009 0/0 2426 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0010 0/0 2426 1 0 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0011 0/0 2426 1 0 0 1 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0012 0/0 2426 1 0 0 1 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0013 0/0 2426 1 0 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0014 0/0 2426 1 0 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0015 0/0 2419 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0016 0/0 2426 1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0017 0/0 2426 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0018 0/0 2426 1 0 0 1 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0019 0/0 2426 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0020 1/0 2426 1 0 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0021 0/0 2426 1 0 0 1 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0022 0/0 2415 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0023 0/0 2419 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0024 0/0 2426 1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0025 0/0 2419 1 0 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0026 0/0 2426 1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0027 0/0 2426 1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0028 0/0 2426 1 0 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 7281 139 46 21 57 1 14 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0002 0/0 7281 56 0 10 34 3 9 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0003 0/0 7281 52 9 4 36 0 3 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0004 0/1 7281 30 5 6 7 4 7 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0005 0/0 7281 13 11 2 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0006 0/0 7281 7 0 7 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0007 0/0 7260 5 0 3 1 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0008 0/0 7260 5 0 3 1 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0009 0/0 7281 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0010 0/0 7281 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0011 0/0 7281 3 0 1 0 2 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0012 0/0 7281 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0013 0/0 7302 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0014 0/0 7281 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0015 0/0 7260 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0016 0/0 7281 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0017 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0018 0/0 7302 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0019 0/0 7281 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0020 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0021 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0022 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0023 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0024 0/0 7302 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0025 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0026 0/0 7260 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0027 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0028 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0029 0/0 7248 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0030 1/0 7281 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0031 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0032 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0033 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0034 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0035 0/0 7260 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0036 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0037 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0038 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0039 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0040 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0041 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0042 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0043 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0044 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0045 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0046 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0047 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0048 0/0 7260 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0049 0/0 7281 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0050 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0051 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0052 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0053 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
c0054 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 1114 355 88 65 156 12 33 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
t0002 0/0 1114 5 0 2 0 0 3 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
t0003 0/0 1114 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
t0004 1/0 1113 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
t0005 0/0 1114 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
t0006 0/0 1114 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 18 0 4 10 0 4 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0002 0/0 11 0 1 7 2 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0003 0/0 7 0 0 7 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0004 0/0 7 0 0 7 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0005 0/0 6 5 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0006 0/0 6 0 2 1 1 2 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0007 0/0 6 0 0 6 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0008 0/0 6 0 4 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0009 0/0 6 1 0 3 2 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0010 0/0 5 0 0 5 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0011 0/0 5 3 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0012 0/0 5 0 0 5 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0013 0/0 5 0 3 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0014 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0015 0/0 4 4 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0016 0/0 4 4 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0017 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0018 0/0 3 2 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0019 0/0 3 2 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0020 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0021 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0022 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0023 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0024 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0025 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0026 0/0 3 0 3 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0027 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0028 0/0 2 0 1 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0029 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0030 0/0 2 0 0 1 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0031 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0032 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0033 0/0 2 0 1 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0034 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0035 0/0 2 0 0 0 2 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0036 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0037 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0038 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0039 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0040 0/0 2 0 1 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0041 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0042 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0043 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0044 0/0 2 0 1 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0045 0/0 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0046 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0047 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0048 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0049 0/0 2 0 1 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0050 0/0 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0051 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0052 0/0 2 1 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0053 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0054 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0055 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0056 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0057 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0058 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0059 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0060 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0061 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0062 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0063 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0064 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0065 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0066 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0067 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0068 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0069 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0070 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0071 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0072 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0073 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0074 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0075 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0076 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0077 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0078 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0079 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0080 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0081 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0082 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0083 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0084 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0085 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0086 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0087 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0088 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0089 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0090 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0091 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0092 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0093 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0094 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0095 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0096 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0097 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0098 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0099 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0100 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0101 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0102 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0103 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0104 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0105 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0106 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0107 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0108 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0109 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0110 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0111 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0112 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0113 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0114 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0115 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0116 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0117 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0118 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0119 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0120 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0121 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0122 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0123 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0124 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0125 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0126 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0127 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0128 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0129 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0130 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0131 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0132 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0133 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0134 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0135 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0136 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0137 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0138 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0139 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0140 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0141 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0142 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0143 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0144 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0145 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0146 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0147 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0148 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0149 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0150 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0151 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0152 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0153 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0154 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0155 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0156 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0157 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0158 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0159 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0160 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0161 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0162 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0163 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0164 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0165 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0166 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0167 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0168 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0169 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0170 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0171 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0172 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0173 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0174 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0175 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0176 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0177 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0178 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0179 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0180 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0181 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0182 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0183 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0184 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0185 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0186 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0187 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0188 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0189 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0190 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0191 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0192 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0193 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0194 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0195 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0196 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0197 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0198 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0199 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0200 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0201 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0202 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0203 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0204 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0205 0/1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0206 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0207 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0208 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0209 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0210 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0211 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0212 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0213 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0214 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0215 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0216 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0217 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0218 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0219 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0220 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0221 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0222 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0223 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0224 1/0 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0225 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0226 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
g0227 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 7281 139 46 21 57 1 14 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0002 0/0 7281 56 0 10 34 3 9 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0009 0/0 7281 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0010 0/0 7281 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0011 0/0 7281 3 0 1 0 2 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0012 0/0 7281 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0014 0/0 7281 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0016 0/0 7281 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0019 0/0 7281 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0021 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0022 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0023 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0025 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0034 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0036 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0038 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0045 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0047 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0053 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0002c0003 0/0 7281 52 9 4 36 0 3 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0002c0031 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003c0004 0/1 7281 30 5 6 7 4 7 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003c0049 0/0 7281 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0004c0005 0/0 7281 13 11 2 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0008 0/0 7260 5 0 3 1 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0015 0/0 7260 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0026 0/0 7260 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0028 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0035 0/0 7260 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0006c0006 0/0 7281 7 0 7 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0007c0007 0/0 7260 5 0 3 1 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0013 0/0 7302 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0018 0/0 7302 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0024 0/0 7302 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0009c0017 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0010c0050 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0011c0046 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0012c0044 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0013c0020 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0014c0032 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0015c0033 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0016c0037 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0017c0039 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0018c0040 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0019c0041 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0020c0030 1/0 7281 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0021c0042 0/0 7281 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0022c0029 0/0 7248 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0023c0043 0/0 7260 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0024c0027 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0025c0048 0/0 7260 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0026c0051 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0027c0052 0/0 7281 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0028c0054 0/0 7281 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 8394 138 46 21 56 1 14 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0001t0003 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0002t0001 0/0 8394 56 0 10 34 3 9 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0009t0001 0/0 8394 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0010t0001 0/0 8394 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0011t0001 0/0 8394 3 0 1 0 2 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0012t0001 0/0 8394 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0014t0001 0/0 8394 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0016t0001 0/0 8394 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0019t0001 0/0 8394 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0021t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0022t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0023t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0025t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0034t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0036t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0038t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0045t0005 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0047t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0001c0053t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0002c0003t0001 0/0 8394 52 9 4 36 0 3 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0002c0031t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003c0004t0001 0/1 8394 26 5 4 7 4 5 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003c0004t0002 0/0 8394 4 0 2 0 0 2 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0003c0049t0002 0/0 8394 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0004c0005t0001 0/0 8394 13 11 2 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0008t0001 0/0 8373 5 0 3 1 0 1 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0015t0001 0/0 8373 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0026t0001 0/0 8373 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0028t0001 0/0 8373 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0005c0035t0001 0/0 8373 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0006c0006t0001 0/0 8394 7 0 7 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0007c0007t0001 0/0 8373 5 0 3 1 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0013t0001 0/0 8415 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0018t0001 0/0 8415 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0008c0024t0001 0/0 8415 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0009c0017t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0010c0050t0006 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0011c0046t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0012c0044t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0013c0020t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0014c0032t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0015c0033t0001 0/0 8373 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0016c0037t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0017c0039t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0018c0040t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0019c0041t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0020c0030t0004 1/0 8393 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0021c0042t0001 0/0 8394 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0022c0029t0001 0/0 8361 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0023c0043t0001 0/0 8373 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0024c0027t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0025c0048t0001 0/0 8373 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0026c0051t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0027c0052t0001 0/0 8394 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481
a0028c0054t0001 0/0 8394 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON copy fasta chr21 33538038 33582481

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 16 0 4 8 0 4 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0003 0/0 6 0 0 6 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0005 0/0 4 4 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0010 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0011 0/0 4 2 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0013 0/0 5 0 3 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0014 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0016 0/0 4 4 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0018 0/0 3 2 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0019 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0020 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0021 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0022 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0028 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0029 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0031 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0032 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0033 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0036 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0037 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0042 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0043 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0044 0/0 2 0 1 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0045 0/0 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0055 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0058 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0060 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0061 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0062 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0063 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0066 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0068 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0074 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0085 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0086 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0087 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0090 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0091 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0092 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0093 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0094 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0096 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0098 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0104 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0105 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0109 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0110 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0112 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0114 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0116 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0118 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0119 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0120 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0121 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0154 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0155 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0156 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0158 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0163 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0166 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0169 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0225 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0001g0227 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0001t0003g0003 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0002 0/0 7 0 1 5 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0006 0/0 6 0 2 1 1 2 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0007 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0012 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0039 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0040 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0041 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0070 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0071 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0073 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0126 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0127 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0128 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0129 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0130 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0131 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0132 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0133 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0134 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0135 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0136 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0137 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0138 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0139 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0140 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0141 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0142 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0143 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0144 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0145 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0146 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0147 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0148 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0150 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0151 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0152 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0002t0001g0159 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0009t0001g0027 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0009t0001g0212 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0010t0001g0034 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0010t0001g0108 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0011t0001g0005 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0011t0001g0035 0/0 2 0 0 0 2 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0012t0001g0082 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0012t0001g0097 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0014t0001g0001 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0016t0001g0123 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0016t0001g0124 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0019t0001g0002 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0021t0001g0010 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0022t0001g0007 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0023t0001g0012 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0025t0001g0149 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0034t0001g0027 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0036t0001g0117 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0038t0001g0122 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0045t0005g0153 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0047t0001g0007 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0001c0053t0001g0057 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0004 0/0 7 0 0 7 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0008 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0017 0/0 4 0 0 4 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0023 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0024 0/0 3 0 0 3 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0046 0/0 2 0 0 2 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0047 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0049 0/0 2 0 1 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0050 0/0 2 1 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0051 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0052 0/0 2 1 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0172 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0173 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0174 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0175 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0176 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0177 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0182 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0183 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0184 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0185 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0186 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0187 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0188 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0189 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0191 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0192 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0202 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0213 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0214 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0218 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0223 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0003t0001g0226 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0002c0031t0001g0047 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0009 0/0 5 1 0 2 2 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0025 0/0 3 3 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0026 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0170 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0193 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0195 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0196 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0197 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0203 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0204 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0205 0/1 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0206 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0207 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0210 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0215 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0216 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0217 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0219 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0001g0220 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0002g0194 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0002g0198 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0002g0200 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0004t0002g0211 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0003c0049t0002g0201 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0015 0/0 4 4 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0038 0/0 2 2 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0099 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0100 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0101 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0102 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0103 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0113 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0004c0005t0001g0125 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0008t0001g0030 0/0 1 0 0 0 0 1 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0008t0001g0089 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0008t0001g0164 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0008t0001g0168 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0008t0001g0222 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0015t0001g0111 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0015t0001g0157 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0026t0001g0002 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0028t0001g0019 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0005c0035t0001g0011 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0006c0006t0001g0008 0/0 4 0 4 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0006c0006t0001g0171 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0006c0006t0001g0181 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0006c0006t0001g0221 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0007c0007t0001g0048 0/0 2 0 2 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0007c0007t0001g0064 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0007c0007t0001g0179 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0007c0007t0001g0180 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0008c0013t0001g0056 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0008c0013t0001g0079 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0008c0018t0001g0002 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0008c0024t0001g0002 0/0 1 0 0 0 1 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0009c0017t0001g0040 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0010c0050t0006g0107 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0011c0046t0001g0190 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0012c0044t0001g0209 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0013c0020t0001g0178 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0014c0032t0001g0009 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0015c0033t0001g0026 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0016c0037t0001g0199 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0017c0039t0001g0053 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0018c0040t0001g0208 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0019c0041t0001g0115 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0020c0030t0004g0224 1/0 1 0 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0021c0042t0001g0167 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0022c0029t0001g0054 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0023c0043t0001g0033 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0024c0027t0001g0005 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0025c0048t0001g0030 0/0 1 0 0 1 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0026c0051t0001g0067 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0027c0052t0001g0069 0/0 1 1 0 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481
a0028c0054t0001g0028 0/0 1 0 1 0 0 0 SON_chr21_33538038_33582481 SON chr21 33538038 33582481

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0001 c0002 t0001 g0137 EUR FIN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00280 hp2 a0003 c0004 t0001 g0220 EUR FIN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00323 hp1 a0007 c0007 t0001 g0179 EUR FIN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00323 hp2 a0001 c0002 t0001 g0002 EUR FIN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00438 hp1 a0002 c0003 t0001 g0046 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00438 hp2 a0002 c0003 t0001 g0186 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00544 hp1 a0001 c0001 t0001 g0045 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00544 hp2 a0002 c0003 t0001 g0017 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00597 hp1 a0010 c0050 t0006 g0107 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00597 hp2 a0001 c0001 t0001 g0078 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00621 hp1 a0002 c0003 t0001 g0183 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00621 hp2 a0001 c0001 t0001 g0001 EAS CHS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00639 hp1 a0001 c0045 t0005 g0153 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00639 hp2 a0005 c0008 t0001 g0164 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00642 hp1 a0001 c0001 t0001 g0011 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00642 hp2 a0001 c0001 t0001 g0104 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00735 hp1 a0001 c0001 t0001 g0011 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00735 hp2 a0001 c0001 t0001 g0061 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00738 hp1 a0019 c0041 t0001 g0115 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00738 hp2 a0023 c0043 t0001 g0033 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00741 hp1 a0002 c0003 t0001 g0052 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG00741 hp2 a0017 c0039 t0001 g0053 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01069 hp1 a0006 c0006 t0001 g0008 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01069 hp2 a0001 c0002 t0001 g0002 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01070 hp1 a0001 c0002 t0001 g0138 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01070 hp2 a0003 c0004 t0001 g0026 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01071 hp1 a0001 c0002 t0001 g0006 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01071 hp2 a0006 c0006 t0001 g0008 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01074 hp1 a0009 c0017 t0001 g0040 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01074 hp2 a0001 c0001 t0001 g0013 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01081 hp1 a0006 c0006 t0001 g0008 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01081 hp2 a0001 c0001 t0001 g0001 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01099 hp1 a0003 c0004 t0002 g0194 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01099 hp2 a0001 c0011 t0001 g0005 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01106 hp1 a0004 c0005 t0001 g0101 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01106 hp2 a0002 c0003 t0001 g0049 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01109 hp1 a0001 c0001 t0001 g0018 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01109 hp2 a0001 c0025 t0001 g0149 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01167 hp1 a0001 c0002 t0001 g0041 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01167 hp2 a0001 c0001 t0001 g0001 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01168 hp1 a0003 c0004 t0001 g0204 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01168 hp2 a0001 c0001 t0001 g0043 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01169 hp1 a0003 c0004 t0001 g0026 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01169 hp2 a0001 c0002 t0001 g0041 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01175 hp1 a0001 c0038 t0001 g0122 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01175 hp2 a0003 c0004 t0002 g0211 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01192 hp1 a0005 c0008 t0001 g0168 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01192 hp2 a0001 c0002 t0001 g0006 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01243 hp1 a0005 c0028 t0001 g0019 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01243 hp2 a0005 c0008 t0001 g0089 AMR PUR SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01255 hp1 a0003 c0004 t0001 g0219 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01255 hp2 a0001 c0001 t0001 g0156 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01256 hp1 a0001 c0002 t0001 g0134 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01256 hp2 a0007 c0007 t0001 g0048 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01257 hp1 a0001 c0001 t0001 g0059 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01257 hp2 a0001 c0001 t0001 g0043 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01258 hp1 a0001 c0001 t0001 g0058 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01258 hp2 a0007 c0007 t0001 g0048 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01261 hp1 a0001 c0001 t0001 g0001 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01261 hp2 a0006 c0006 t0001 g0221 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01346 hp1 a0001 c0001 t0001 g0013 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01346 hp2 a0006 c0006 t0001 g0181 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01358 hp1 a0002 c0003 t0001 g0188 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01358 hp2 a0015 c0033 t0001 g0026 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01433 hp1 a0028 c0054 t0001 g0028 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01433 hp2 a0001 c0002 t0001 g0133 AMR CLM SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01516 hp1 a0003 c0004 t0001 g0009 EUR IBS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01516 hp2 a0001 c0011 t0001 g0035 EUR IBS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01517 hp1 a0001 c0001 t0001 g0166 EUR IBS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01517 hp2 a0001 c0011 t0001 g0035 EUR IBS SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01884 hp1 a0001 c0001 t0001 g0066 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01884 hp2 a0002 c0003 t0001 g0218 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01891 hp1 a0001 c0001 t0001 g0011 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01891 hp2 a0004 c0005 t0001 g0125 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01928 hp1 a0001 c0001 t0001 g0072 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01928 hp2 a0002 c0003 t0001 g0177 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01934 hp1 a0001 c0002 t0001 g0139 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01934 hp2 a0001 c0001 t0001 g0001 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01943 hp1 a0001 c0001 t0001 g0044 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01943 hp2 a0006 c0006 t0001 g0171 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01952 hp1 a0001 c0001 t0001 g0013 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01952 hp2 a0022 c0029 t0001 g0054 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01975 hp1 a0007 c0007 t0001 g0180 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01975 hp2 a0004 c0005 t0001 g0099 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01981 hp1 a0001 c0001 t0001 g0085 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG01981 hp2 a0001 c0002 t0001 g0128 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02015 hp1 a0001 c0001 t0001 g0001 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02015 hp2 a0001 c0001 t0001 g0106 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02027 hp1 a0001 c0001 t0003 g0003 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02027 hp2 a0002 c0003 t0001 g0173 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02040 hp1 a0003 c0004 t0001 g0203 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02040 hp2 a0001 c0001 t0001 g0010 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02055 hp1 a0001 c0001 t0001 g0105 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02055 hp2 a0001 c0001 t0001 g0116 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02071 hp1 a0008 c0018 t0001 g0002 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02071 hp2 a0001 c0001 t0001 g0165 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02074 hp1 a0002 c0003 t0001 g0185 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02074 hp2 a0001 c0002 t0001 g0007 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02083 hp1 a0014 c0032 t0001 g0009 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02083 hp2 a0002 c0003 t0001 g0008 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02129 hp1 a0025 c0048 t0001 g0030 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02129 hp2 a0005 c0026 t0001 g0002 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02135 hp1 a0001 c0001 t0001 g0013 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02135 hp2 a0001 c0002 t0001 g0147 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02145 hp1 a0001 c0009 t0001 g0212 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02145 hp2 a0001 c0001 t0001 g0018 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02155 hp1 a0001 c0001 t0001 g0160 EAS CDX SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02155 hp2 a0013 c0020 t0001 g0178 EAS CDX SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02165 hp1 a0001 c0001 t0001 g0003 EAS CDX SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02165 hp2 a0001 c0001 t0001 g0112 EAS CDX SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02257 hp1 a0001 c0001 t0001 g0045 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02257 hp2 a0001 c0016 t0001 g0124 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02258 hp1 a0001 c0001 t0001 g0019 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02258 hp2 a0001 c0001 t0001 g0068 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02273 hp1 a0006 c0006 t0001 g0008 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02273 hp2 a0001 c0001 t0001 g0096 AMR PEL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02280 hp1 a0001 c0010 t0001 g0108 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02280 hp2 a0004 c0005 t0001 g0015 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02523 hp1 a0001 c0002 t0001 g0127 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02523 hp2 a0001 c0001 t0001 g0013 EAS KHV SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02572 hp1 a0004 c0005 t0001 g0015 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02572 hp2 a0001 c0001 t0001 g0118 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02602 hp1 a0003 c0004 t0002 g0200 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02602 hp2 a0001 c0002 t0001 g0006 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02615 hp1 a0002 c0003 t0001 g0213 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02615 hp2 a0001 c0001 t0001 g0005 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02630 hp1 a0001 c0001 t0001 g0062 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02630 hp2 a0001 c0001 t0001 g0121 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02647 hp1 a0001 c0001 t0001 g0119 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02647 hp2 a0001 c0001 t0001 g0060 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02683 hp1 a0002 c0003 t0001 g0049 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02683 hp2 a0001 c0001 t0001 g0109 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02735 hp1 a0001 c0002 t0001 g0141 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02735 hp2 a0003 c0004 t0001 g0197 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02738 hp1 a0003 c0004 t0001 g0217 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02738 hp2 a0002 c0003 t0001 g0187 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02809 hp1 a0004 c0005 t0001 g0015 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02809 hp2 a0001 c0010 t0001 g0034 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02818 hp1 a0004 c0005 t0001 g0103 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02818 hp2 a0016 c0037 t0001 g0199 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02886 hp1 a0001 c0001 t0001 g0016 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02886 hp2 a0001 c0001 t0001 g0021 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02896 hp1 a0001 c0001 t0001 g0016 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02896 hp2 a0001 c0001 t0001 g0055 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02922 hp1 a0003 c0004 t0001 g0195 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02922 hp2 a0001 c0001 t0001 g0037 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02965 hp1 a0001 c0001 t0001 g0029 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02965 hp2 a0001 c0001 t0001 g0021 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02970 hp1 a0026 c0051 t0001 g0067 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02970 hp2 a0001 c0001 t0001 g0063 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02976 hp1 a0001 c0001 t0001 g0019 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02976 hp2 a0003 c0004 t0001 g0025 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03017 hp1 a0001 c0001 t0001 g0074 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03017 hp2 a0001 c0001 t0001 g0225 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03041 hp1 a0001 c0001 t0001 g0036 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03041 hp2 a0001 c0010 t0001 g0034 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03098 hp1 a0001 c0001 t0001 g0036 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03098 hp2 a0027 c0052 t0001 g0069 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03130 hp1 a0001 c0001 t0001 g0098 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03130 hp2 a0003 c0004 t0001 g0025 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03139 hp1 a0001 c0001 t0001 g0093 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03139 hp2 a0001 c0016 t0001 g0123 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03195 hp1 a0002 c0003 t0001 g0226 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03195 hp2 a0008 c0013 t0001 g0056 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03209 hp1 a0001 c0001 t0001 g0029 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03209 hp2 a0001 c0001 t0001 g0016 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03225 hp1 a0001 c0001 t0001 g0037 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03225 hp2 a0002 c0003 t0001 g0052 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03239 hp1 a0001 c0001 t0001 g0163 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03239 hp2 a0003 c0004 t0002 g0198 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03453 hp1 a0001 c0034 t0001 g0027 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03453 hp2 a0001 c0001 t0001 g0154 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03486 hp1 a0002 c0003 t0001 g0202 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03486 hp2 a0004 c0005 t0001 g0038 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03490 hp1 a0001 c0002 t0001 g0040 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03490 hp2 a0001 c0001 t0001 g0001 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03492 hp1 a0001 c0001 t0001 g0001 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03492 hp2 a0001 c0002 t0001 g0126 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03516 hp1 a0002 c0003 t0001 g0214 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03516 hp2 a0001 c0001 t0001 g0110 AFR ESN SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03540 hp1 a0001 c0053 t0001 g0057 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03540 hp2 a0001 c0001 t0001 g0087 AFR GWD SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03579 hp1 a0001 c0001 t0001 g0155 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03579 hp2 a0001 c0009 t0001 g0027 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03654 hp1 a0001 c0002 t0001 g0159 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03654 hp2 a0001 c0001 t0001 g0001 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03669 hp1 a0001 c0001 t0001 g0227 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03669 hp2 a0001 c0002 t0001 g0071 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03704 hp1 a0002 c0003 t0001 g0182 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03704 hp2 a0005 c0008 t0001 g0030 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03710 hp1 a0001 c0001 t0001 g0158 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03710 hp2 a0001 c0002 t0001 g0132 SAS PJL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03831 hp1 a0003 c0049 t0002 g0201 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03831 hp2 a0001 c0002 t0001 g0131 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03927 hp1 a0003 c0004 t0001 g0170 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03927 hp2 a0001 c0001 t0001 g0169 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03942 hp1 a0001 c0019 t0001 g0002 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03942 hp2 a0001 c0001 t0001 g0092 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG04115 hp1 a0001 c0001 t0001 g0001 SAS STU SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG04115 hp2 a0003 c0004 t0001 g0215 SAS STU SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG04184 hp1 a0003 c0004 t0001 g0210 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG04184 hp2 a0001 c0001 t0001 g0114 SAS BEB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18522 hp1 a0001 c0001 t0001 g0120 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18522 hp2 a0001 c0001 t0001 g0022 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18612 hp1 a0002 c0003 t0001 g0017 EAS CHB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18612 hp2 a0001 c0001 t0001 g0001 EAS CHB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18906 hp1 a0005 c0035 t0001 g0011 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18906 hp2 a0001 c0001 t0001 g0018 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18941 hp1 a0002 c0003 t0001 g0023 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18941 hp2 a0001 c0001 t0001 g0075 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18942 hp1 a0002 c0003 t0001 g0189 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18942 hp2 a0001 c0002 t0001 g0002 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18945 hp1 a0002 c0003 t0001 g0017 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18945 hp2 a0001 c0001 t0001 g0091 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18947 hp1 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18947 hp2 a0001 c0001 t0001 g0077 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18948 hp1 a0001 c0001 t0001 g0094 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18948 hp2 a0002 c0003 t0001 g0047 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18951 hp1 a0003 c0004 t0001 g0193 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18951 hp2 a0001 c0001 t0001 g0081 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18953 hp1 a0001 c0002 t0001 g0002 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18953 hp2 a0021 c0042 t0001 g0167 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18954 hp1 a0001 c0001 t0001 g0095 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18954 hp2 a0001 c0002 t0001 g0130 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18956 hp1 a0001 c0001 t0001 g0033 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18956 hp2 a0003 c0004 t0001 g0206 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18959 hp1 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18959 hp2 a0001 c0001 t0001 g0044 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18960 hp1 a0001 c0001 t0001 g0003 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18960 hp2 a0002 c0003 t0001 g0024 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18962 hp1 a0002 c0003 t0001 g0191 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18962 hp2 a0001 c0001 t0001 g0014 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18963 hp1 a0001 c0001 t0001 g0086 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18963 hp2 a0002 c0003 t0001 g0184 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18964 hp1 a0001 c0002 t0001 g0039 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18964 hp2 a0001 c0001 t0001 g0161 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18967 hp1 a0001 c0001 t0001 g0031 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18967 hp2 a0003 c0004 t0001 g0216 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18968 hp1 a0005 c0008 t0001 g0222 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18968 hp2 a0001 c0002 t0001 g0006 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18970 hp1 a0001 c0001 t0001 g0162 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18970 hp2 a0002 c0003 t0001 g0024 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18971 hp1 a0001 c0002 t0001 g0012 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18971 hp2 a0001 c0001 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18972 hp1 a0001 c0001 t0001 g0003 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18972 hp2 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18973 hp1 a0001 c0001 t0001 g0010 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18973 hp2 a0002 c0003 t0001 g0223 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18974 hp1 a0001 c0002 t0001 g0007 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18974 hp2 a0001 c0014 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18975 hp1 a0001 c0002 t0001 g0142 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18975 hp2 a0002 c0003 t0001 g0050 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18977 hp1 a0003 c0004 t0001 g0009 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18977 hp2 a0001 c0002 t0001 g0150 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18978 hp1 a0001 c0001 t0001 g0083 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18978 hp2 a0002 c0003 t0001 g0192 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18979 hp1 a0001 c0002 t0001 g0007 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18979 hp2 a0018 c0040 t0001 g0208 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18980 hp1 a0002 c0003 t0001 g0174 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18980 hp2 a0001 c0002 t0001 g0012 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18981 hp1 a0001 c0002 t0001 g0135 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18981 hp2 a0001 c0001 t0001 g0042 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18982 hp1 a0002 c0003 t0001 g0023 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18982 hp2 a0001 c0002 t0001 g0144 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18983 hp1 a0002 c0003 t0001 g0008 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18983 hp2 a0001 c0001 t0001 g0003 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18984 hp1 a0001 c0002 t0001 g0145 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18984 hp2 a0001 c0012 t0001 g0082 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18986 hp1 a0001 c0002 t0001 g0143 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18986 hp2 a0001 c0014 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18987 hp1 a0012 c0044 t0001 g0209 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18987 hp2 a0001 c0002 t0001 g0039 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18990 hp1 a0001 c0001 t0001 g0003 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18990 hp2 a0002 c0031 t0001 g0047 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18991 hp1 a0001 c0002 t0001 g0070 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18991 hp2 a0001 c0001 t0001 g0032 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18992 hp1 a0001 c0012 t0001 g0097 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18992 hp2 a0001 c0022 t0001 g0007 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18995 hp1 a0001 c0002 t0001 g0152 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18995 hp2 a0001 c0001 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18998 hp1 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA18998 hp2 a0008 c0013 t0001 g0079 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19000 hp1 a0001 c0002 t0001 g0140 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19000 hp2 a0001 c0001 t0001 g0080 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19002 hp1 a0002 c0003 t0001 g0023 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19002 hp2 a0001 c0001 t0001 g0042 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19004 hp1 a0001 c0001 t0001 g0014 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19004 hp2 a0002 c0003 t0001 g0175 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19006 hp1 a0002 c0003 t0001 g0017 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19006 hp2 a0001 c0002 t0001 g0002 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19009 hp1 a0005 c0015 t0001 g0157 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19009 hp2 a0005 c0015 t0001 g0111 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19011 hp1 a0001 c0001 t0001 g0065 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19011 hp2 a0002 c0003 t0001 g0172 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19030 hp1 a0001 c0001 t0001 g0005 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19030 hp2 a0001 c0036 t0001 g0117 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19043 hp1 a0001 c0001 t0001 g0022 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19043 hp2 a0004 c0005 t0001 g0102 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19054 hp1 a0001 c0047 t0001 g0007 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19054 hp2 a0001 c0001 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19057 hp1 a0001 c0001 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19057 hp2 a0003 c0004 t0001 g0009 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19058 hp1 a0001 c0002 t0001 g0002 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19058 hp2 a0001 c0023 t0001 g0012 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19059 hp1 a0001 c0001 t0001 g0084 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19059 hp2 a0001 c0002 t0001 g0073 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19060 hp1 a0001 c0001 t0001 g0014 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19060 hp2 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19063 hp1 a0001 c0002 t0001 g0129 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19063 hp2 a0001 c0001 t0001 g0076 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19064 hp1 a0001 c0002 t0001 g0007 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19064 hp2 a0001 c0001 t0001 g0020 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19065 hp1 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19065 hp2 a0001 c0021 t0001 g0010 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19067 hp1 a0001 c0001 t0001 g0010 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19067 hp2 a0002 c0003 t0001 g0024 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19068 hp1 a0007 c0007 t0001 g0064 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19068 hp2 a0001 c0001 t0001 g0020 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19076 hp1 a0001 c0002 t0001 g0148 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19076 hp2 a0001 c0001 t0001 g0001 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19079 hp1 a0002 c0003 t0001 g0004 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19079 hp2 a0001 c0001 t0001 g0031 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19080 hp1 a0001 c0001 t0001 g0010 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19080 hp2 a0001 c0002 t0001 g0012 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19081 hp1 a0002 c0003 t0001 g0046 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19081 hp2 a0001 c0002 t0001 g0002 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19082 hp1 a0001 c0002 t0001 g0012 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19082 hp2 a0011 c0046 t0001 g0190 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19084 hp1 a0001 c0001 t0001 g0020 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19084 hp2 a0003 c0004 t0001 g0196 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19085 hp1 a0001 c0001 t0001 g0032 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19085 hp2 a0001 c0002 t0001 g0136 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19086 hp1 a0001 c0001 t0001 g0014 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19086 hp2 a0002 c0003 t0001 g0176 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19088 hp1 a0001 c0002 t0001 g0146 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19088 hp2 a0001 c0001 t0001 g0003 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19091 hp1 a0001 c0002 t0001 g0151 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19091 hp2 a0001 c0001 t0001 g0088 EAS JPT SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19240 hp1 a0001 c0001 t0001 g0021 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA19240 hp2 a0002 c0003 t0001 g0051 AFR YRI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20129 hp1 a0003 c0004 t0001 g0009 AFR ASW SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20129 hp2 a0001 c0001 t0001 g0022 AFR ASW SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20752 hp1 a0001 c0002 t0001 g0006 EUR TSI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20752 hp2 a0003 c0004 t0001 g0009 EUR TSI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20805 hp1 a0003 c0004 t0001 g0207 EUR TSI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20805 hp2 a0008 c0024 t0001 g0002 EUR TSI SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20905 hp1 a0001 c0001 t0001 g0028 SAS GIH SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20905 hp2 a0001 c0002 t0001 g0006 SAS GIH SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02109 hp1 a0001 c0001 t0001 g0090 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02109 hp2 a0004 c0005 t0001 g0015 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02486 hp1 a0004 c0005 t0001 g0100 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02486 hp2 a0024 c0027 t0001 g0005 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02559 hp1 a0001 c0009 t0001 g0027 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG02559 hp2 a0001 c0001 t0001 g0011 AFR ACB SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03471 hp1 a0002 c0003 t0001 g0051 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG03471 hp2 a0001 c0001 t0001 g0005 AFR MSL SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG06807 hp1 a0004 c0005 t0001 g0113 AFR USA SON_chr21_33538038_33582481 SON chr21 33538038 33582481
HG06807 hp2 a0003 c0004 t0001 g0025 AFR USA SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20300 hp1 a0002 c0003 t0001 g0050 AFR USA SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA20300 hp2 a0001 c0001 t0001 g0005 AFR USA SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA21309 hp1 a0001 c0001 t0001 g0016 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
NA21309 hp2 a0004 c0005 t0001 g0038 AFR LWK SON_chr21_33538038_33582481 SON chr21 33538038 33582481
homoSapiens_chm13v2 hp1 a0003 c0004 t0001 g0205 REF REF SON_chr21_33538038_33582481 SON chr21 33538038 33582481
homoSapiens_grch38 hp1 a0020 c0030 t0004 g0224 REF REF SON_chr21_33538038_33582481 SON chr21 33538038 33582481

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
chr21:33546256 A
A
G
G
1 a0028
a0028
1 HG01433.hp1
HG01433.hp1
missense_variant MODERATE c.121A>G
c.121A>G
p.Ile41Val
p.Ile41Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/12 176/8393 121/7281 41/2426 chr21 33546256
chr21:33549728 C
C
T
T
1 a0027
a0027
1 HG03098.hp2
HG03098.hp2
missense_variant MODERATE c.497C>T
c.497C>T
p.Ala166Val
p.Ala166Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 552/8393 497/7281 166/2426 chr21 33549728
chr21:33550209 G
G
A
A
1 a0009
a0009
1 HG01074.hp1
HG01074.hp1
missense_variant MODERATE c.978G>A
c.978G>A
p.Met326Ile
p.Met326Ile
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1033/8393 978/7281 326/2426 chr21 33550209
chr21:33550238 C
C
T
T
1 a0026
a0026
1 HG02970.hp1
HG02970.hp1
missense_variant MODERATE c.1007C>T
c.1007C>T
p.Ala336Val
p.Ala336Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1062/8393 1007/7281 336/2426 chr21 33550238
chr21:33550358 C
C
T
T
1 a0010
a0010
1 HG00597.hp1
HG00597.hp1
missense_variant MODERATE c.1127C>T
c.1127C>T
p.Ser376Leu
p.Ser376Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1182/8393 1127/7281 376/2426 chr21 33550358
chr21:33550883 A
A
G
G
1 a0025
a0025
1 HG02129.hp1
HG02129.hp1
missense_variant MODERATE c.1652A>G
c.1652A>G
p.Gln551Arg
p.Gln551Arg
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1707/8393 1652/7281 551/2426 chr21 33550883
chr21:33551356 A
A
T
T
1 a0011
a0011
1 NA19082.hp2
NA19082.hp2
missense_variant MODERATE c.2125A>T
c.2125A>T
p.Met709Leu
p.Met709Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2180/8393 2125/7281 709/2426 chr21 33551356
chr21:33551593 A
A
G
G
1 a0012
a0012
1 NA18987.hp1
NA18987.hp1
missense_variant MODERATE c.2362A>G
c.2362A>G
p.Thr788Ala
p.Thr788Ala
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2417/8393 2362/7281 788/2426 chr21 33551593
chr21:33551706 G
G
A
A
1 a0013
a0013
1 HG02155.hp2
HG02155.hp2
missense_variant MODERATE c.2475G>A
c.2475G>A
p.Met825Ile
p.Met825Ile
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2530/8393 2475/7281 825/2426 chr21 33551706
chr21:33551839 A
A
G
G
1 a0004
a0004
13 HG01106.hp1
HG01891.hp2
HG01975.hp2
others(10): Show 
HG01106.hp1
HG01891.hp2
HG01975.hp2
HG02109.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02818.hp1
HG03486.hp2
HG06807.hp1
NA19043.hp2
NA21309.hp2
missense_variant MODERATE c.2608A>G
c.2608A>G
p.Thr870Ala
p.Thr870Ala
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2663/8393 2608/7281 870/2426 chr21 33551839
chr21:33552325 T
T
A
A
1 a0024
a0024
1 HG02486.hp2
HG02486.hp2
missense_variant MODERATE c.3094T>A
c.3094T>A
p.Ser1032Thr
p.Ser1032Thr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3149/8393 3094/7281 1032/2426 chr21 33552325
chr21:33552451 A
A
G
G
1 a0023
a0023
1 HG00738.hp2
HG00738.hp2
missense_variant MODERATE c.3220A>G
c.3220A>G
p.Met1074Val
p.Met1074Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3275/8393 3220/7281 1074/2426 chr21 33552451
chr21:33552491 GTGCTGAC
others(26): Show 
GTGCTGACCGGTCTATGATGTCGTCATACTCTGC
G
G
1 a0022
a0022
1 HG01952.hp2
HG01952.hp2
disruptive_inframe_deletion MODERATE c.3282_3314delGTCATA
others(27): Show 
c.3282_3314delGTCATACTCTGCTGCTGACCGGTCTATGATGTC
p.Ser1095_Ser1105del
p.Ser1095_Ser1105del
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3337/8393 3282/7281 1094/2426 INFO_REALIGN_3_PRIME chr21 33552491
chr21:33552730 A
A
G
G
1 a0021
a0021
1 NA18953.hp2
NA18953.hp2
missense_variant MODERATE c.3499A>G
c.3499A>G
p.Met1167Val
p.Met1167Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3554/8393 3499/7281 1167/2426 chr21 33552730
chr21:33552836 C
C
T
T
27 a0001
a0002
a0003
others(24): Show 
a0001
a0002
a0003
a0004
a0005
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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
missense_variant MODERATE c.3605C>T
c.3605C>T
p.Ser1202Leu
p.Ser1202Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3660/8393 3605/7281 1202/2426 chr21 33552836
chr21:33552871 C
C
T
T
1 a0019
a0019
1 HG00738.hp1
HG00738.hp1
missense_variant MODERATE c.3640C>T
c.3640C>T
p.Pro1214Ser
p.Pro1214Ser
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3695/8393 3640/7281 1214/2426 chr21 33552871
chr21:33552998 A
A
G
G
1 a0006
a0006
7 HG01069.hp1
HG01071.hp2
HG01081.hp1
others(4): Show 
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp2
HG01943.hp2
HG02273.hp1
missense_variant MODERATE c.3767A>G
c.3767A>G
p.Glu1256Gly
p.Glu1256Gly
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3822/8393 3767/7281 1256/2426 chr21 33552998
chr21:33553190 A
A
G
G
1 a0018
a0018
1 NA18979.hp2
NA18979.hp2
missense_variant MODERATE c.3959A>G
c.3959A>G
p.His1320Arg
p.His1320Arg
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4014/8393 3959/7281 1320/2426 chr21 33553190
chr21:33553258 A
A
C
C
1 a0022
a0022
1 HG01952.hp2
HG01952.hp2
missense_variant MODERATE c.4027A>C
c.4027A>C
p.Ile1343Leu
p.Ile1343Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4082/8393 4027/7281 1343/2426 chr21 33553258
chr21:33553694 A
A
G
G
2 a0017
a0022
a0017
a0022
2 HG00741.hp2
HG01952.hp2
HG00741.hp2
HG01952.hp2
missense_variant MODERATE c.4463A>G
c.4463A>G
p.Asn1488Ser
p.Asn1488Ser
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4518/8393 4463/7281 1488/2426 chr21 33553694
chr21:33553737 G
G
A
A
5 a0002
a0006
a0007
others(2): Show 
a0002
a0006
a0007
a0011
a0013
67 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(64): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01884.hp2
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02615.hp1
HG02683.hp1
HG02738.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03704.hp1
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
missense_variant MODERATE c.4506G>A
c.4506G>A
p.Met1502Ile
p.Met1502Ile
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4561/8393 4506/7281 1502/2426 chr21 33553737
chr21:33553756 T
T
G
G
1 a0014
a0014
1 HG02083.hp1
HG02083.hp1
missense_variant MODERATE c.4525T>G
c.4525T>G
p.Ser1509Ala
p.Ser1509Ala
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4580/8393 4525/7281 1509/2426 chr21 33553756
chr21:33553764 A
A
C
C
1 a0014
a0014
1 HG02083.hp1
HG02083.hp1
missense_variant MODERATE c.4533A>C
c.4533A>C
p.Glu1511Asp
p.Glu1511Asp
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4588/8393 4533/7281 1511/2426 chr21 33553764
chr21:33553765 G
G
A
A
1 a0014
a0014
1 HG02083.hp1
HG02083.hp1
missense_variant MODERATE c.4534G>A
c.4534G>A
p.Glu1512Lys
p.Glu1512Lys
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4589/8393 4534/7281 1512/2426 chr21 33553765
chr21:33553766 A
A
T
T
1 a0014
a0014
1 HG02083.hp1
HG02083.hp1
missense_variant MODERATE c.4535A>T
c.4535A>T
p.Glu1512Val
p.Glu1512Val
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4590/8393 4535/7281 1512/2426 chr21 33553766
chr21:33553767 A
A
T
T
1 a0014
a0014
1 HG02083.hp1
HG02083.hp1
missense_variant MODERATE c.4536A>T
c.4536A>T
p.Glu1512Asp
p.Glu1512Asp
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4591/8393 4536/7281 1512/2426 chr21 33553767
chr21:33553814 A
A
G
G
1 a0016
a0016
1 HG02818.hp2
HG02818.hp2
missense_variant MODERATE c.4583A>G
c.4583A>G
p.His1528Arg
p.His1528Arg
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4638/8393 4583/7281 1528/2426 chr21 33553814
chr21:33553954 C
C
T
T
16 a0001
a0004
a0005
others(13): Show 
a0001
a0004
a0005
a0008
a0009
a0010
a0017
a0019
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
260 HG00280.hp1
HG00323.hp2
HG00544.hp1
others(257): Show 
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
missense_variant MODERATE c.4723C>T
c.4723C>T
p.Arg1575Cys
p.Arg1575Cys
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4778/8393 4723/7281 1575/2426 chr21 33553954
chr21:33555090 A
A
AAGCCGCC
others(14): Show 
AAGCCGCCGCAGCCGCACCCCC
1 a0008
a0008
4 HG02071.hp1
HG03195.hp2
NA18998.hp2
others(1): Show 
HG02071.hp1
HG03195.hp2
NA18998.hp2
NA20805.hp2
disruptive_inframe_insertion MODERATE c.5931_5951dupCAGCCG
others(15): Show 
c.5931_5951dupCAGCCGCACCCCCAGCCGCCG
p.Arg1984_Ser1985ins
others(21): Show 
p.Arg1984_Ser1985insSerArgThrProSerArgArg
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 6007/8393 5952/7281 1984/2426 INFO_REALIGN_3_PRIME chr21 33555090
chr21:33555090 AAGCCGCC
others(14): Show 
AAGCCGCCGCAGCCGCACCCCC
A
A
5 a0005
a0007
a0015
others(2): Show 
a0005
a0007
a0015
a0023
a0025
17 HG00323.hp1
HG00639.hp2
HG00738.hp2
others(14): Show 
HG00323.hp1
HG00639.hp2
HG00738.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01358.hp2
HG01975.hp1
HG02129.hp1
HG02129.hp2
HG03704.hp2
NA18968.hp1
NA19009.hp1
NA19009.hp2
NA19068.hp1
disruptive_inframe_deletion MODERATE c.5931_5951delCAGCCG
others(15): Show 
c.5931_5951delCAGCCGCACCCCCAGCCGCCG
p.Ser1978_Arg1984del
p.Ser1978_Arg1984del
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 5986/8393 5931/7281 1977/2426 INFO_REALIGN_3_PRIME chr21 33555090
chr21:33555174 CAGCCGCC
others(14): Show 
CAGCCGCCGGAGCCGCACCCCT
C
C
1 a0005
a0005
1 NA18906.hp1
NA18906.hp1
disruptive_inframe_deletion MODERATE c.5949_5969delCCGGAG
others(15): Show 
c.5949_5969delCCGGAGCCGCACCCCTAGCCG
p.Arg1984_Arg1990del
p.Arg1984_Arg1990del
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 6004/8393 5949/7281 1983/2426 INFO_REALIGN_3_PRIME chr21 33555174
chr21:33576378 G
G
GA
GA
27 a0001
a0002
a0003
others(24): Show 
a0001
a0002
a0003
a0004
a0005
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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
frameshift_variant HIGH c.7236dupA
c.7236dupA
p.Ala2413fs
p.Ala2413fs
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 7292/8393 7237/7281 2413/2426 INFO_REALIGN_3_PRIME chr21 33576378
chr21:33576390 GA
GA
G
G
27 a0001
a0002
a0003
others(24): Show 
a0001
a0002
a0003
a0004
a0005
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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
frameshift_variant HIGH c.7248delA
c.7248delA
p.Arg2416fs
p.Arg2416fs
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 7303/8393 7248/7281 2416/2426 chr21 33576390

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
chr21:33546246 A
A
G
G
1 a0001c0016
a0001c0016
2 HG02257.hp2
HG03139.hp2
HG02257.hp2
HG03139.hp2
synonymous_variant LOW c.111A>G
c.111A>G
p.Thr37Thr
p.Thr37Thr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/12 166/8393 111/7281 37/2426 chr21 33546246
chr21:33546378 A
A
T
T
1 a0001c0053
a0001c0053
1 HG03540.hp1
HG03540.hp1
splice_region_variant&synonymous_variant LOW c.243A>T
c.243A>T
p.Pro81Pro
p.Pro81Pro
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/12 298/8393 243/7281 81/2426 chr21 33546378
chr21:33549867 A
A
G
G
1 a0001c0011
a0001c0011
3 HG01099.hp2
HG01516.hp2
HG01517.hp2
HG01099.hp2
HG01516.hp2
HG01517.hp2
synonymous_variant LOW c.636A>G
c.636A>G
p.Ala212Ala
p.Ala212Ala
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 691/8393 636/7281 212/2426 chr21 33549867
chr21:33550317 G
G
A
A
1 a0008c0018
a0008c0018
1 HG02071.hp1
HG02071.hp1
synonymous_variant LOW c.1086G>A
c.1086G>A
p.Pro362Pro
p.Pro362Pro
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1141/8393 1086/7281 362/2426 chr21 33550317
chr21:33550383 G
G
A
A
1 a0001c0019
a0001c0019
1 HG03942.hp1
HG03942.hp1
synonymous_variant LOW c.1152G>A
c.1152G>A
p.Pro384Pro
p.Pro384Pro
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1207/8393 1152/7281 384/2426 chr21 33550383
chr21:33550629 A
A
T
T
1 a0003c0049
a0003c0049
1 HG03831.hp1
HG03831.hp1
synonymous_variant LOW c.1398A>T
c.1398A>T
p.Pro466Pro
p.Pro466Pro
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 1453/8393 1398/7281 466/2426 chr21 33550629
chr21:33551268 A
A
G
G
1 a0001c0047
a0001c0047
1 NA19054.hp1
NA19054.hp1
synonymous_variant LOW c.2037A>G
c.2037A>G
p.Thr679Thr
p.Thr679Thr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2092/8393 2037/7281 679/2426 chr21 33551268
chr21:33551475 C
C
G
G
1 a0001c0045
a0001c0045
1 HG00639.hp1
HG00639.hp1
synonymous_variant LOW c.2244C>G
c.2244C>G
p.Ser748Ser
p.Ser748Ser
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2299/8393 2244/7281 748/2426 chr21 33551475
chr21:33551892 G
G
A
A
1 a0001c0021
a0001c0021
1 NA19065.hp2
NA19065.hp2
synonymous_variant LOW c.2661G>A
c.2661G>A
p.Ala887Ala
p.Ala887Ala
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2716/8393 2661/7281 887/2426 chr21 33551892
chr21:33551937 T
T
C
C
10 a0001c0002
a0001c0019
a0001c0022
others(7): Show 
a0001c0002
a0001c0019
a0001c0022
a0001c0023
a0001c0025
a0001c0047
a0005c0026
a0008c0018
a0008c0024
a0009c0017
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
synonymous_variant LOW c.2706T>C
c.2706T>C
p.Asp902Asp
p.Asp902Asp
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 2761/8393 2706/7281 902/2426 chr21 33551937
chr21:33552291 T
T
C
C
1 a0001c0022
a0001c0022
1 NA18992.hp2
NA18992.hp2
synonymous_variant LOW c.3060T>C
c.3060T>C
p.Tyr1020Tyr
p.Tyr1020Tyr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3115/8393 3060/7281 1020/2426 chr21 33552291
chr21:33552417 T
T
C
C
1 a0005c0028
a0005c0028
1 HG01243.hp1
HG01243.hp1
synonymous_variant LOW c.3186T>C
c.3186T>C
p.Tyr1062Tyr
p.Tyr1062Tyr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3241/8393 3186/7281 1062/2426 chr21 33552417
chr21:33552585 T
T
C
C
1 a0001c0023
a0001c0023
1 NA19058.hp2
NA19058.hp2
synonymous_variant LOW c.3354T>C
c.3354T>C
p.Tyr1118Tyr
p.Tyr1118Tyr
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 3409/8393 3354/7281 1118/2426 chr21 33552585
chr21:33553383 G
G
A
A
10 a0001c0002
a0001c0019
a0001c0022
others(7): Show 
a0001c0002
a0001c0019
a0001c0022
a0001c0023
a0001c0025
a0001c0047
a0005c0026
a0008c0018
a0008c0024
a0009c0017
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
synonymous_variant LOW c.4152G>A
c.4152G>A
p.Leu1384Leu
p.Leu1384Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4207/8393 4152/7281 1384/2426 chr21 33553383
chr21:33553785 C
C
T
T
1 a0001c0038
a0001c0038
1 HG01175.hp1
HG01175.hp1
synonymous_variant LOW c.4554C>T
c.4554C>T
p.His1518His
p.His1518His
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4609/8393 4554/7281 1518/2426 chr21 33553785
chr21:33553794 T
T
C
C
1 a0002c0031
a0002c0031
1 NA18990.hp2
NA18990.hp2
synonymous_variant LOW c.4563T>C
c.4563T>C
p.Gly1521Gly
p.Gly1521Gly
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4618/8393 4563/7281 1521/2426 chr21 33553794
chr21:33553824 T
T
C
C
1 a0024c0027
a0024c0027
1 HG02486.hp2
HG02486.hp2
synonymous_variant LOW c.4593T>C
c.4593T>C
p.Asn1531Asn
p.Asn1531Asn
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4648/8393 4593/7281 1531/2426 chr21 33553824
chr21:33553836 T
T
C
C
1 a0001c0012
a0001c0012
2 NA18984.hp2
NA18992.hp1
NA18984.hp2
NA18992.hp1
synonymous_variant LOW c.4605T>C
c.4605T>C
p.Asn1535Asn
p.Asn1535Asn
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 4660/8393 4605/7281 1535/2426 chr21 33553836
chr21:33554442 A
A
G
G
1 a0001c0036
a0001c0036
1 NA19030.hp2
NA19030.hp2
synonymous_variant LOW c.5211A>G
c.5211A>G
p.Leu1737Leu
p.Leu1737Leu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 5266/8393 5211/7281 1737/2426 chr21 33554442
chr21:33554511 T
T
C
C
1 a0001c0045
a0001c0045
1 HG00639.hp1
HG00639.hp1
synonymous_variant LOW c.5280T>C
c.5280T>C
p.Asp1760Asp
p.Asp1760Asp
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 5335/8393 5280/7281 1760/2426 chr21 33554511
chr21:33555162 C
C
G
G
2 a0001c0010
a0004c0005
a0001c0010
a0004c0005
16 HG01106.hp1
HG01891.hp2
HG01975.hp2
others(13): Show 
HG01106.hp1
HG01891.hp2
HG01975.hp2
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG03041.hp2
HG03486.hp2
HG06807.hp1
NA19043.hp2
NA21309.hp2
synonymous_variant LOW c.5931C>G
c.5931C>G
p.Arg1977Arg
p.Arg1977Arg
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 5986/8393 5931/7281 1977/2426 chr21 33555162
chr21:33555195 T
T
C
C
1 a0005c0015
a0005c0015
2 NA19009.hp1
NA19009.hp2
NA19009.hp1
NA19009.hp2
synonymous_variant LOW c.5964T>C
c.5964T>C
p.Pro1988Pro
p.Pro1988Pro
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/12 6019/8393 5964/7281 1988/2426 chr21 33555195
chr21:33559727 A
A
G
G
1 a0001c0014
a0001c0014
2 NA18974.hp2
NA18986.hp2
NA18974.hp2
NA18986.hp2
synonymous_variant LOW c.6609A>G
c.6609A>G
p.Glu2203Glu
p.Glu2203Glu
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/12 6664/8393 6609/7281 2203/2426 chr21 33559727
chr21:33559760 C
C
T
T
1 a0001c0034
a0001c0034
1 HG03453.hp1
HG03453.hp1
synonymous_variant LOW c.6642C>T
c.6642C>T
p.Ser2214Ser
p.Ser2214Ser
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/12 6697/8393 6642/7281 2214/2426 chr21 33559760
chr21:33567261 G
G
A
A
1 a0001c0025
a0001c0025
1 HG01109.hp2
HG01109.hp2
synonymous_variant LOW c.6762G>A
c.6762G>A
p.Gln2254Gln
p.Gln2254Gln
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/12 6817/8393 6762/7281 2254/2426 chr21 33567261
chr21:33573415 T
T
C
C
15 a0001c0009
a0001c0034
a0002c0003
others(12): Show 
a0001c0009
a0001c0034
a0002c0003
a0002c0031
a0003c0004
a0003c0049
a0006c0006
a0007c0007
a0011c0046
a0012c0044
a0013c0020
a0014c0032
a0015c0033
a0016c0037
a0018c0040
107 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(104): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01516.hp1
HG01884.hp2
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03579.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18987.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19057.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19086.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.6993T>C
c.6993T>C
p.Asn2331Asn
p.Asn2331Asn
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/12 7048/8393 6993/7281 2331/2426 chr21 33573415

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
chr21:33576619 C
C
T
T
1 a0010c0050t0006
a0010c0050t0006
1 HG00597.hp1
HG00597.hp1
3_prime_UTR_variant MODIFIER c.*195C>T
c.*195C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 195 chr21 33576619
chr21:33576902 T
T
C
C
2 a0003c0004t0002
a0003c0049t0002
a0003c0004t0002
a0003c0049t0002
5 HG01099.hp1
HG01175.hp2
HG02602.hp1
others(2): Show 
HG01099.hp1
HG01175.hp2
HG02602.hp1
HG03239.hp2
HG03831.hp1
3_prime_UTR_variant MODIFIER c.*478T>C
c.*478T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 478 chr21 33576902
chr21:33576948 C
C
T
T
1 a0001c0045t0005
a0001c0045t0005
1 HG00639.hp1
HG00639.hp1
3_prime_UTR_variant MODIFIER c.*524C>T
c.*524C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 524 chr21 33576948
chr21:33577190 C
C
CA
CA
55 a0001c0001t0001
a0001c0001t0003
a0001c0002t0001
others(52): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0002t0001
a0001c0009t0001
a0001c0010t0001
a0001c0011t0001
a0001c0012t0001
a0001c0014t0001
a0001c0016t0001
a0001c0019t0001
a0001c0021t0001
a0001c0022t0001
a0001c0023t0001
a0001c0025t0001
a0001c0034t0001
a0001c0036t0001
a0001c0038t0001
a0001c0045t0005
a0001c0047t0001
a0001c0053t0001
a0002c0003t0001
a0002c0031t0001
a0003c0004t0001
a0003c0004t0002
a0003c0049t0002
a0004c0005t0001
a0005c0008t0001
a0005c0015t0001
a0005c0026t0001
a0005c0028t0001
a0005c0035t0001
a0006c0006t0001
a0007c0007t0001
a0008c0013t0001
a0008c0018t0001
a0008c0024t0001
a0009c0017t0001
a0010c0050t0006
a0011c0046t0001
a0012c0044t0001
a0013c0020t0001
a0014c0032t0001
a0015c0033t0001
a0016c0037t0001
a0017c0039t0001
a0018c0040t0001
a0019c0041t0001
a0021c0042t0001
a0022c0029t0001
a0023c0043t0001
a0024c0027t0001
a0025c0048t0001
a0026c0051t0001
a0027c0052t0001
a0028c0054t0001
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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
3_prime_UTR_variant MODIFIER c.*767dupA
c.*767dupA
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 768 INFO_REALIGN_3_PRIME chr21 33577190
chr21:33577213 G
G
A
A
1 a0001c0001t0003
a0001c0001t0003
1 HG02027.hp1
HG02027.hp1
3_prime_UTR_variant MODIFIER c.*789G>A
c.*789G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 12/12 789 chr21 33577213

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
chr21:33543313 G
G
C
C
2 a0017c0039t0001g0053
a0022c0029t0001g0054
a0017c0039t0001g0053
a0022c0029t0001g0054
2 HG00741.hp2
HG01952.hp2
HG00741.hp2
HG01952.hp2
intron_variant MODIFIER c.77+144G>C
c.77+144G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543313
chr21:33543325 C
C
T
T
1 a0001c0001t0001g0227
a0001c0001t0001g0227
1 HG03669.hp1
HG03669.hp1
intron_variant MODIFIER c.77+156C>T
c.77+156C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543325
chr21:33543379 G
G
A
A
2 a0001c0001t0001g0028
a0028c0054t0001g0028
a0001c0001t0001g0028
a0028c0054t0001g0028
2 HG01433.hp1
NA20905.hp1
HG01433.hp1
NA20905.hp1
intron_variant MODIFIER c.77+210G>A
c.77+210G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543379
chr21:33543429 C
C
G
G
2 a0002c0003t0001g0052
a0002c0003t0001g0226
a0002c0003t0001g0052
a0002c0003t0001g0226
3 HG00741.hp1
HG03195.hp1
HG03225.hp2
HG00741.hp1
HG03195.hp1
HG03225.hp2
intron_variant MODIFIER c.77+260C>G
c.77+260C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543429
chr21:33543437 T
T
C
C
13 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0029
others(10): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0029
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0053t0001g0057
a0005c0028t0001g0019
a0008c0013t0001g0056
17 HG00735.hp2
HG01109.hp1
HG01243.hp1
others(14): Show 
HG00735.hp2
HG01109.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp1
HG02145.hp2
HG02258.hp1
HG02630.hp1
HG02647.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03540.hp1
NA18906.hp2
intron_variant MODIFIER c.77+268T>C
c.77+268T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543437
chr21:33543468 G
G
GCTCCAGG
others(6): Show 
GCTCCAGGTCCGTC
1 a0001c0001t0001g0225
a0001c0001t0001g0225
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.77+300_77+301insTC
others(11): Show 
c.77+300_77+301insTCCAGGTCCGTCC
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 INFO_REALIGN_3_PRIME chr21 33543468
chr21:33543473 G
G
C
C
1 a0001c0001t0001g0225
a0001c0001t0001g0225
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.77+304G>C
c.77+304G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543473
chr21:33543516 T
T
G
G
2 a0005c0008t0001g0030
a0025c0048t0001g0030
a0005c0008t0001g0030
a0025c0048t0001g0030
2 HG02129.hp1
HG03704.hp2
HG02129.hp1
HG03704.hp2
intron_variant MODIFIER c.77+347T>G
c.77+347T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543516
chr21:33543543 T
T
TC
TC
249 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(246): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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.77+375dupC
c.77+375dupC
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 INFO_REALIGN_3_PRIME chr21 33543543
chr21:33543727 A
A
G
G
1 a0002c0003t0001g0223
a0002c0003t0001g0223
1 NA18973.hp2
NA18973.hp2
intron_variant MODIFIER c.77+558A>G
c.77+558A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543727
chr21:33543873 T
T
C
C
1 a0007c0007t0001g0064
a0007c0007t0001g0064
1 NA19068.hp1
NA19068.hp1
intron_variant MODIFIER c.77+704T>C
c.77+704T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33543873
chr21:33544025 C
C
G
G
1 a0005c0008t0001g0222
a0005c0008t0001g0222
1 NA18968.hp1
NA18968.hp1
intron_variant MODIFIER c.77+856C>G
c.77+856C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544025
chr21:33544030 T
T
C
C
1 a0001c0001t0001g0065
a0001c0001t0001g0065
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.77+861T>C
c.77+861T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544030
chr21:33544103 G
G
C
C
1 a0001c0001t0001g0065
a0001c0001t0001g0065
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.77+934G>C
c.77+934G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544103
chr21:33544113 G
G
A
A
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG01884.hp1
HG01884.hp1
intron_variant MODIFIER c.77+944G>A
c.77+944G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544113
chr21:33544307 T
T
C
C
173 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(170): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
256 HG00280.hp1
HG00323.hp2
HG00544.hp1
others(253): Show 
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.77+1138T>C
c.77+1138T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544307
chr21:33544545 T
T
TC
TC
17 a0001c0001t0001g0013
a0001c0001t0001g0042
a0001c0001t0001g0043
others(14): Show 
a0001c0001t0001g0013
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0005c0008t0001g0030
a0005c0008t0001g0164
a0005c0008t0001g0168
a0021c0042t0001g0167
a0025c0048t0001g0030
25 HG00544.hp1
HG00639.hp2
HG01074.hp2
others(22): Show 
HG00544.hp1
HG00639.hp2
HG01074.hp2
HG01168.hp2
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01517.hp1
HG01943.hp1
HG01952.hp1
HG02071.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp1
HG02523.hp2
HG03239.hp1
HG03704.hp2
HG03927.hp2
NA18953.hp2
NA18959.hp2
NA18964.hp2
NA18970.hp1
NA18981.hp2
NA19002.hp2
intron_variant MODIFIER c.77+1384dupC
c.77+1384dupC
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 INFO_REALIGN_3_PRIME chr21 33544545
chr21:33544550 C
C
A
A
1 a0026c0051t0001g0067
a0026c0051t0001g0067
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.77+1381C>A
c.77+1381C>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544550
chr21:33544656 C
C
T
T
1 a0006c0006t0001g0221
a0006c0006t0001g0221
1 HG01261.hp2
HG01261.hp2
intron_variant MODIFIER c.77+1487C>T
c.77+1487C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33544656
chr21:33545008 T
T
G
G
1 a0003c0004t0001g0170
a0003c0004t0001g0170
1 HG03927.hp1
HG03927.hp1
intron_variant MODIFIER c.78-1205T>G
c.78-1205T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545008
chr21:33545131 C
C
T
T
1 a0001c0001t0001g0225
a0001c0001t0001g0225
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.78-1082C>T
c.78-1082C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545131
chr21:33545140 C
C
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.78-1073C>A
c.78-1073C>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545140
chr21:33545170 G
G
C
C
1 a0006c0006t0001g0171
a0006c0006t0001g0171
1 HG01943.hp2
HG01943.hp2
intron_variant MODIFIER c.78-1043G>C
c.78-1043G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545170
chr21:33545174 C
C
G
G
1 a0001c0002t0001g0159
a0001c0002t0001g0159
1 HG03654.hp1
HG03654.hp1
intron_variant MODIFIER c.78-1039C>G
c.78-1039C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545174
chr21:33545389 G
G
A
A
1 a0027c0052t0001g0069
a0027c0052t0001g0069
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.78-824G>A
c.78-824G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545389
chr21:33545443 T
T
A
A
1 a0001c0001t0001g0042
a0001c0001t0001g0042
2 NA18981.hp2
NA19002.hp2
NA18981.hp2
NA19002.hp2
intron_variant MODIFIER c.78-770T>A
c.78-770T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545443
chr21:33545479 A
A
G
G
1 a0001c0001t0001g0158
a0001c0001t0001g0158
1 HG03710.hp1
HG03710.hp1
intron_variant MODIFIER c.78-734A>G
c.78-734A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545479
chr21:33545519 T
T
C
C
2 a0002c0003t0001g0017
a0002c0003t0001g0046
a0002c0003t0001g0017
a0002c0003t0001g0046
6 HG00438.hp1
HG00544.hp2
NA18612.hp1
others(3): Show 
HG00438.hp1
HG00544.hp2
NA18612.hp1
NA18945.hp1
NA19006.hp1
NA19081.hp1
intron_variant MODIFIER c.78-694T>C
c.78-694T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545519
chr21:33545836 C
C
T
T
2 a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0001g0219
a0003c0004t0001g0220
2 HG00280.hp2
HG01255.hp1
HG00280.hp2
HG01255.hp1
intron_variant MODIFIER c.78-377C>T
c.78-377C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545836
chr21:33545858 G
G
GTTTTTTT
others(35): Show 
GTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT
1 a0005c0015t0001g0157
a0005c0015t0001g0157
1 NA19009.hp1
NA19009.hp1
intron_variant MODIFIER c.78-350_78-349insTT
others(40): Show 
c.78-350_78-349insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTT
TTTTTTTTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 INFO_REALIGN_3_PRIME chr21 33545858
chr21:33545864 C
C
T
T
1 a0005c0015t0001g0157
a0005c0015t0001g0157
1 NA19009.hp1
NA19009.hp1
intron_variant MODIFIER c.78-349C>T
c.78-349C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33545864
chr21:33546172 T
T
A
A
1 a0001c0002t0001g0070
a0001c0002t0001g0070
1 NA18991.hp1
NA18991.hp1
intron_variant MODIFIER c.78-41T>A
c.78-41T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33546172
chr21:33546193 C
C
T
T
1 a0001c0001t0001g0156
a0001c0001t0001g0156
1 HG01255.hp2
HG01255.hp2
intron_variant MODIFIER c.78-20C>T
c.78-20C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 1/11 chr21 33546193
chr21:33546407 A
A
G
G
2 a0017c0039t0001g0053
a0022c0029t0001g0054
a0017c0039t0001g0053
a0022c0029t0001g0054
2 HG00741.hp2
HG01952.hp2
HG00741.hp2
HG01952.hp2
intron_variant MODIFIER c.244+28A>G
c.244+28A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546407
chr21:33546696 G
G
A
A
1 a0001c0002t0001g0071
a0001c0002t0001g0071
1 HG03669.hp2
HG03669.hp2
intron_variant MODIFIER c.244+317G>A
c.244+317G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546696
chr21:33546720 G
G
A
A
1 a0001c0001t0001g0072
a0001c0001t0001g0072
1 HG01928.hp1
HG01928.hp1
intron_variant MODIFIER c.244+341G>A
c.244+341G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546720
chr21:33546759 C
C
A
A
37 a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
others(34): Show 
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0223
a0002c0031t0001g0047
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0011c0046t0001g0190
a0013c0020t0001g0178
58 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(55): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02683.hp1
HG02738.hp2
HG03704.hp1
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA20300.hp1
intron_variant MODIFIER c.244+380C>A
c.244+380C>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546759
chr21:33546787 A
A
T
T
5 a0002c0003t0001g0024
a0002c0003t0001g0189
a0002c0003t0001g0191
others(2): Show 
a0002c0003t0001g0024
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0011c0046t0001g0190
7 NA18942.hp1
NA18960.hp2
NA18962.hp1
others(4): Show 
NA18942.hp1
NA18960.hp2
NA18962.hp1
NA18970.hp2
NA18978.hp2
NA19067.hp2
NA19082.hp2
intron_variant MODIFIER c.244+408A>T
c.244+408A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546787
chr21:33546792 T
T
C
C
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.244+413T>C
c.244+413T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546792
chr21:33546939 T
T
G
G
1 a0001c0002t0001g0073
a0001c0002t0001g0073
1 NA19059.hp2
NA19059.hp2
intron_variant MODIFIER c.244+560T>G
c.244+560T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33546939
chr21:33547179 G
G
A
A
1 a0001c0001t0001g0074
a0001c0001t0001g0074
1 HG03017.hp1
HG03017.hp1
intron_variant MODIFIER c.244+800G>A
c.244+800G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547179
chr21:33547224 C
C
T
T
5 a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0154
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0045t0005g0153
9 HG00639.hp1
HG02886.hp2
HG02965.hp2
others(6): Show 
HG00639.hp1
HG02886.hp2
HG02965.hp2
HG03453.hp2
HG03579.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.244+845C>T
c.244+845C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547224
chr21:33547287 A
A
C
C
46 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(43): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.244+908A>C
c.244+908A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547287
chr21:33547347 C
C
G
G
1 a0002c0003t0001g0188
a0002c0003t0001g0188
1 HG01358.hp1
HG01358.hp1
intron_variant MODIFIER c.244+968C>G
c.244+968C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547347
chr21:33547364 C
C
T
T
1 a0027c0052t0001g0069
a0027c0052t0001g0069
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.244+985C>T
c.244+985C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547364
chr21:33547578 A
A
G
G
1 a0004c0005t0001g0125
a0004c0005t0001g0125
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.244+1199A>G
c.244+1199A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547578
chr21:33547596 A
A
ATTGAAGT
others(16): Show 
ATTGAAGTATGACTTATCTAACAT
1 a0001c0002t0001g0070
a0001c0002t0001g0070
1 NA18991.hp1
NA18991.hp1
intron_variant MODIFIER c.244+1220_244+1242d
others(25): Show 
c.244+1220_244+1242dupGAAGTATGACTTATCTAACATTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547596
chr21:33547638 CAATT
CAATT
C
C
47 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(44): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0003c0004t0001g0193
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
66 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(63): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18951.hp1
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.244+1263_244+1266d
others(6): Show 
c.244+1263_244+1266delTAAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547638
chr21:33547671 C
C
G
G
2 a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0016t0001g0123
a0001c0016t0001g0124
2 HG02257.hp2
HG03139.hp2
HG02257.hp2
HG03139.hp2
intron_variant MODIFIER c.244+1292C>G
c.244+1292C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547671
chr21:33547705 C
C
CT
CT
59 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0013
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0154
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0003g0003
a0001c0002t0001g0007
a0001c0002t0001g0073
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0022t0001g0007
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0047t0001g0007
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0211
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0164
a0005c0015t0001g0111
a0005c0015t0001g0157
a0017c0039t0001g0053
a0019c0041t0001g0115
a0022c0029t0001g0054
a0024c0027t0001g0005
a0025c0048t0001g0030
84 HG00280.hp2
HG00639.hp2
HG00738.hp1
others(81): Show 
HG00280.hp2
HG00639.hp2
HG00738.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01346.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02027.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02738.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03704.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18972.hp1
NA18974.hp1
NA18977.hp2
NA18979.hp1
NA18981.hp2
NA18983.hp2
NA18990.hp1
NA18992.hp2
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19059.hp2
NA19064.hp1
NA19076.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.244+1353dupT
c.244+1353dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547705
chr21:33547705 C
C
CTT
CTT
19 a0001c0001t0001g0016
a0001c0001t0001g0037
a0001c0001t0001g0045
others(16): Show 
a0001c0001t0001g0016
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0068
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0155
a0001c0002t0001g0152
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0174
a0002c0003t0001g0189
a0002c0003t0001g0223
a0004c0005t0001g0038
a0005c0008t0001g0168
a0011c0046t0001g0190
a0021c0042t0001g0167
a0026c0051t0001g0067
a0027c0052t0001g0069
28 HG00438.hp1
HG00544.hp1
HG01192.hp1
others(25): Show 
HG00438.hp1
HG00544.hp1
HG01192.hp1
HG02257.hp1
HG02258.hp2
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03579.hp1
NA18522.hp1
NA18942.hp1
NA18953.hp2
NA18960.hp2
NA18970.hp2
NA18973.hp2
NA18980.hp1
NA18995.hp1
NA19067.hp2
NA19081.hp1
NA19082.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.244+1352_244+1353d
others(4): Show 
c.244+1352_244+1353dupTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547705
chr21:33547705 C
C
CTTT
CTTT
21 a0001c0001t0001g0121
a0001c0001t0001g0169
a0001c0038t0001g0122
others(18): Show 
a0001c0001t0001g0121
a0001c0001t0001g0169
a0001c0038t0001g0122
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0191
a0002c0003t0001g0192
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0013c0020t0001g0178
37 HG00323.hp1
HG00544.hp2
HG01069.hp1
others(34): Show 
HG00323.hp1
HG00544.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp2
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02630.hp2
HG03704.hp1
HG03927.hp2
NA18612.hp1
NA18941.hp1
NA18945.hp1
NA18947.hp1
NA18959.hp1
NA18962.hp1
NA18972.hp2
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19060.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA19086.hp2
intron_variant MODIFIER c.244+1351_244+1353d
others(5): Show 
c.244+1351_244+1353dupTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547705
chr21:33547705 C
C
CTTTT
CTTTT
9 a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0183
others(6): Show 
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0006c0006t0001g0221
11 HG00438.hp2
HG00621.hp1
HG01106.hp2
others(8): Show 
HG00438.hp2
HG00621.hp1
HG01106.hp2
HG01261.hp2
HG01358.hp1
HG02074.hp1
HG02683.hp1
HG02738.hp2
NA18963.hp2
NA18975.hp2
NA20300.hp1
intron_variant MODIFIER c.244+1350_244+1353d
others(6): Show 
c.244+1350_244+1353dupTTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547705
chr21:33547705 CT
CT
C
C
19 a0001c0001t0001g0010
a0001c0001t0001g0018
a0001c0001t0001g0020
others(16): Show 
a0001c0001t0001g0010
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0072
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0002t0001g0070
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0021t0001g0010
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0002g0194
a0008c0013t0001g0079
26 HG00597.hp2
HG01099.hp1
HG01109.hp1
others(23): Show 
HG00597.hp2
HG01099.hp1
HG01109.hp1
HG01928.hp1
HG01981.hp2
HG02040.hp2
HG02145.hp2
HG02523.hp1
HG02922.hp1
HG03492.hp2
NA18906.hp2
NA18941.hp2
NA18947.hp2
NA18973.hp1
NA18991.hp1
NA18998.hp2
NA19000.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
intron_variant MODIFIER c.244+1353delT
c.244+1353delT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547705
chr21:33547745 C
C
G
G
2 a0002c0003t0001g0052
a0002c0003t0001g0226
a0002c0003t0001g0052
a0002c0003t0001g0226
3 HG00741.hp1
HG03195.hp1
HG03225.hp2
HG00741.hp1
HG03195.hp1
HG03225.hp2
intron_variant MODIFIER c.244+1366C>G
c.244+1366C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547745
chr21:33547787 T
T
C
C
1 a0026c0051t0001g0067
a0026c0051t0001g0067
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.244+1408T>C
c.244+1408T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547787
chr21:33547797 C
C
G
G
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG01884.hp1
HG01884.hp1
intron_variant MODIFIER c.244+1418C>G
c.244+1418C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547797
chr21:33547875 C
C
T
T
3 a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0038t0001g0122
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0038t0001g0122
3 HG01175.hp1
HG02257.hp2
HG03139.hp2
HG01175.hp1
HG02257.hp2
HG03139.hp2
intron_variant MODIFIER c.244+1496C>T
c.244+1496C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33547875
chr21:33547890 AT
AT
A
A
59 a0001c0001t0001g0109
a0001c0001t0001g0118
a0001c0009t0001g0027
others(56): Show 
a0001c0001t0001g0109
a0001c0001t0001g0118
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0034t0001g0027
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0025
a0003c0004t0001g0195
a0003c0004t0001g0197
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0011c0046t0001g0190
a0013c0020t0001g0178
a0016c0037t0001g0199
85 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(82): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03579.hp2
HG03704.hp1
HG03831.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.244+1525delT
c.244+1525delT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547890
chr21:33547890 ATT
ATT
A
A
124 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(121): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0129
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0021t0001g0010
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0053t0001g0057
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0010c0050t0006g0107
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0027c0052t0001g0069
a0028c0054t0001g0028
188 HG00544.hp1
HG00597.hp1
HG00597.hp2
others(185): Show 
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18978.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.244+1524_244+1525d
others(4): Show 
c.244+1524_244+1525delTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547890
chr21:33547890 ATTT
ATTT
A
A
47 a0001c0001t0001g0081
a0001c0002t0001g0002
a0001c0002t0001g0006
others(44): Show 
a0001c0001t0001g0081
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0003c0004t0001g0193
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
66 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(63): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.244+1523_244+1525d
others(5): Show 
c.244+1523_244+1525delTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33547890
chr21:33548115 AAATC
AAATC
A
A
44 a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
others(41): Show 
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0011c0046t0001g0190
a0013c0020t0001g0178
67 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(64): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01884.hp2
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02615.hp1
HG02683.hp1
HG02738.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03704.hp1
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.245-1360_245-1357d
others(6): Show 
c.245-1360_245-1357delAATC
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548115
chr21:33548176 CTTCTTAA
others(142): Show 
CTTCTTAAGTTGTAAATTAAGGACTAAGAATTTCCTCTCTAAAATCAGTA
TTCTTTTCTAAAATAGAAACATTTGAAAAGTTATTTATTAGTGGTTTTAG
AATAGTATTGGGGGAAAATGTTATCTCTTTAGGGTATGTAAATTCAAACT
C
C
2 a0001c0001t0001g0029
a0001c0001t0001g0062
a0001c0001t0001g0029
a0001c0001t0001g0062
3 HG02630.hp1
HG02965.hp1
HG03209.hp1
HG02630.hp1
HG02965.hp1
HG03209.hp1
intron_variant MODIFIER c.245-1289_245-1141d
others(2): Show 
c.245-1289_245-1141del
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33548176
chr21:33548298 A
A
C
C
2 a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0010t0001g0034
a0001c0010t0001g0108
3 HG02280.hp1
HG02809.hp2
HG03041.hp2
HG02280.hp1
HG02809.hp2
HG03041.hp2
intron_variant MODIFIER c.245-1178A>C
c.245-1178A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548298
chr21:33548403 T
T
C
C
2 a0001c0009t0001g0027
a0001c0034t0001g0027
a0001c0009t0001g0027
a0001c0034t0001g0027
3 HG02559.hp1
HG03453.hp1
HG03579.hp2
HG02559.hp1
HG03453.hp1
HG03579.hp2
intron_variant MODIFIER c.245-1073T>C
c.245-1073T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548403
chr21:33548575 A
A
G
G
1 a0001c0036t0001g0117
a0001c0036t0001g0117
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.245-901A>G
c.245-901A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548575
chr21:33548754 G
G
T
T
1 a0010c0050t0006g0107
a0010c0050t0006g0107
1 HG00597.hp1
HG00597.hp1
intron_variant MODIFIER c.245-722G>T
c.245-722G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548754
chr21:33548880 G
G
A
A
1 a0003c0004t0001g0219
a0003c0004t0001g0219
1 HG01255.hp1
HG01255.hp1
intron_variant MODIFIER c.245-596G>A
c.245-596G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33548880
chr21:33549001 A
A
G
G
1 a0001c0002t0001g0041
a0001c0002t0001g0041
2 HG01167.hp1
HG01169.hp2
HG01167.hp1
HG01169.hp2
intron_variant MODIFIER c.245-475A>G
c.245-475A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33549001
chr21:33549081 G
G
GT
GT
27 a0001c0001t0001g0011
a0001c0001t0001g0061
a0001c0001t0001g0066
others(24): Show 
a0001c0001t0001g0011
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0154
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0002t0001g0151
a0002c0003t0001g0008
a0002c0003t0001g0182
a0002c0003t0001g0187
a0003c0004t0001g0210
a0003c0004t0001g0217
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0012c0044t0001g0209
a0019c0041t0001g0115
34 HG00642.hp1
HG00642.hp2
HG00735.hp1
others(31): Show 
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02273.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp2
HG03453.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
NA18906.hp1
NA18983.hp1
NA18987.hp1
NA19000.hp2
NA19091.hp1
intron_variant MODIFIER c.245-380dupT
c.245-380dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33549081
chr21:33549081 G
G
T
T
1 a0001c0045t0005g0153
a0001c0045t0005g0153
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.245-395G>T
c.245-395G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33549081
chr21:33549101 C
C
T
T
1 a0001c0001t0001g0106
a0001c0001t0001g0106
1 HG02015.hp2
HG02015.hp2
intron_variant MODIFIER c.245-375C>T
c.245-375C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33549101
chr21:33549183 A
A
ATTGT
ATTGT
221 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0195
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0013c0020t0001g0178
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
328 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(325): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.245-292_245-291ins
others(4): Show 
c.245-292_245-291insTGTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 INFO_REALIGN_3_PRIME chr21 33549183
chr21:33549238 C
C
G
G
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.245-238C>G
c.245-238C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 2/11 chr21 33549238
chr21:33555445 A
A
AT
AT
49 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(46): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
69 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(66): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02735.hp1
HG03453.hp1
HG03490.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6160+61dupT
c.6160+61dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 INFO_REALIGN_3_PRIME chr21 33555445
chr21:33555528 A
A
G
G
1 a0001c0002t0001g0147
a0001c0002t0001g0147
1 HG02135.hp2
HG02135.hp2
intron_variant MODIFIER c.6160+137A>G
c.6160+137A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33555528
chr21:33556023 G
G
A
A
104 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(101): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0021t0001g0010
a0001c0053t0001g0057
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0010c0050t0006g0107
a0019c0041t0001g0115
a0021c0042t0001g0167
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0028c0054t0001g0028
163 HG00544.hp1
HG00597.hp1
HG00597.hp2
others(160): Show 
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18978.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
intron_variant MODIFIER c.6160+632G>A
c.6160+632G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556023
chr21:33556049 C
C
T
T
127 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(124): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0021t0001g0010
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0053t0001g0057
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0010c0050t0006g0107
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
191 HG00544.hp1
HG00597.hp1
HG00597.hp2
others(188): Show 
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18978.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.6160+658C>T
c.6160+658C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556049
chr21:33556050 G
G
A
A
1 a0002c0003t0001g0175
a0002c0003t0001g0175
1 NA19004.hp2
NA19004.hp2
intron_variant MODIFIER c.6160+659G>A
c.6160+659G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556050
chr21:33556104 C
C
G
G
1 a0003c0049t0002g0201
a0003c0049t0002g0201
1 HG03831.hp1
HG03831.hp1
intron_variant MODIFIER c.6160+713C>G
c.6160+713C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556104
chr21:33556114 C
C
T
T
1 a0005c0008t0001g0168
a0005c0008t0001g0168
1 HG01192.hp1
HG01192.hp1
intron_variant MODIFIER c.6160+723C>T
c.6160+723C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556114
chr21:33556148 G
G
A
A
1 a0001c0012t0001g0082
a0001c0012t0001g0082
1 NA18984.hp2
NA18984.hp2
intron_variant MODIFIER c.6160+757G>A
c.6160+757G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556148
chr21:33556276 T
T
C
C
3 a0002c0003t0001g0023
a0002c0003t0001g0176
a0002c0003t0001g0188
a0002c0003t0001g0023
a0002c0003t0001g0176
a0002c0003t0001g0188
5 HG01358.hp1
NA18941.hp1
NA18982.hp1
others(2): Show 
HG01358.hp1
NA18941.hp1
NA18982.hp1
NA19002.hp1
NA19086.hp2
intron_variant MODIFIER c.6161-880T>C
c.6161-880T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556276
chr21:33556465 C
C
A
A
1 a0001c0011t0001g0035
a0001c0011t0001g0035
2 HG01516.hp2
HG01517.hp2
HG01516.hp2
HG01517.hp2
intron_variant MODIFIER c.6161-691C>A
c.6161-691C>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556465
chr21:33556586 C
C
T
T
6 a0001c0002t0001g0012
a0001c0002t0001g0144
a0001c0002t0001g0145
others(3): Show 
a0001c0002t0001g0012
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0150
a0001c0023t0001g0012
9 NA18971.hp1
NA18977.hp2
NA18980.hp2
others(6): Show 
NA18971.hp1
NA18977.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA19058.hp2
NA19080.hp2
NA19082.hp1
NA19088.hp1
intron_variant MODIFIER c.6161-570C>T
c.6161-570C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556586
chr21:33556606 C
C
T
T
3 a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
3 HG02818.hp1
HG06807.hp1
NA19043.hp2
HG02818.hp1
HG06807.hp1
NA19043.hp2
intron_variant MODIFIER c.6161-550C>T
c.6161-550C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556606
chr21:33556711 CA
CA
C
C
101 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(98): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0143
a0001c0011t0001g0005
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0021t0001g0010
a0001c0038t0001g0122
a0001c0053t0001g0057
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0010c0050t0006g0107
a0019c0041t0001g0115
a0021c0042t0001g0167
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0028c0054t0001g0028
159 HG00544.hp1
HG00597.hp1
HG00597.hp2
others(156): Show 
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19060.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
intron_variant MODIFIER c.6161-428delA
c.6161-428delA
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 INFO_REALIGN_3_PRIME chr21 33556711
chr21:33556790 A
A
G
G
37 a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
others(34): Show 
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0223
a0002c0031t0001g0047
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0011c0046t0001g0190
a0013c0020t0001g0178
58 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(55): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02683.hp1
HG02738.hp2
HG03704.hp1
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA20300.hp1
intron_variant MODIFIER c.6161-366A>G
c.6161-366A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556790
chr21:33556842 T
T
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.6161-314T>A
c.6161-314T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556842
chr21:33556938 T
T
A
A
1 a0027c0052t0001g0069
a0027c0052t0001g0069
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.6161-218T>A
c.6161-218T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556938
chr21:33556949 T
T
G
G
37 a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
others(34): Show 
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0223
a0002c0031t0001g0047
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0011c0046t0001g0190
a0013c0020t0001g0178
58 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(55): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01928.hp2
HG01943.hp2
HG01975.hp1
HG02027.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02273.hp1
HG02683.hp1
HG02738.hp2
HG03704.hp1
NA18612.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19011.hp2
NA19060.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19086.hp2
NA20300.hp1
intron_variant MODIFIER c.6161-207T>G
c.6161-207T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33556949
chr21:33557013 C
C
CT
CT
3 a0004c0005t0001g0015
a0004c0005t0001g0101
a0008c0013t0001g0079
a0004c0005t0001g0015
a0004c0005t0001g0101
a0008c0013t0001g0079
6 HG01106.hp1
HG02109.hp2
HG02280.hp2
others(3): Show 
HG01106.hp1
HG02109.hp2
HG02280.hp2
HG02572.hp1
HG02809.hp1
NA18998.hp2
intron_variant MODIFIER c.6161-132dupT
c.6161-132dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 INFO_REALIGN_3_PRIME chr21 33557013
chr21:33557116 T
T
C
C
51 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(48): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
71 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(68): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02735.hp1
HG03139.hp2
HG03453.hp1
HG03490.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6161-40T>C
c.6161-40T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 3/11 chr21 33557116
chr21:33557426 G
G
A
A
1 a0001c0001t0001g0086
a0001c0001t0001g0086
1 NA18963.hp1
NA18963.hp1
intron_variant MODIFIER c.6321+110G>A
c.6321+110G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33557426
chr21:33557625 C
C
T
T
1 a0001c0002t0001g0142
a0001c0002t0001g0142
1 NA18975.hp1
NA18975.hp1
intron_variant MODIFIER c.6321+309C>T
c.6321+309C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33557625
chr21:33557636 T
T
C
C
1 a0002c0003t0001g0189
a0002c0003t0001g0189
1 NA18942.hp1
NA18942.hp1
intron_variant MODIFIER c.6321+320T>C
c.6321+320T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33557636
chr21:33557683 T
T
A
A
2 a0003c0004t0001g0197
a0003c0004t0001g0215
a0003c0004t0001g0197
a0003c0004t0001g0215
2 HG02735.hp2
HG04115.hp2
HG02735.hp2
HG04115.hp2
intron_variant MODIFIER c.6321+367T>A
c.6321+367T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33557683
chr21:33557795 C
C
T
T
1 a0021c0042t0001g0167
a0021c0042t0001g0167
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.6321+479C>T
c.6321+479C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33557795
chr21:33558158 T
T
A
A
1 a0002c0003t0001g0183
a0002c0003t0001g0183
1 HG00621.hp1
HG00621.hp1
intron_variant MODIFIER c.6321+842T>A
c.6321+842T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33558158
chr21:33558244 T
T
C
C
1 a0008c0013t0001g0079
a0008c0013t0001g0079
1 NA18998.hp2
NA18998.hp2
intron_variant MODIFIER c.6321+928T>C
c.6321+928T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33558244
chr21:33558427 A
A
G
G
1 a0004c0005t0001g0101
a0004c0005t0001g0101
1 HG01106.hp1
HG01106.hp1
intron_variant MODIFIER c.6322-803A>G
c.6322-803A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33558427
chr21:33558529 T
T
A
A
1 a0001c0002t0001g0159
a0001c0002t0001g0159
1 HG03654.hp1
HG03654.hp1
intron_variant MODIFIER c.6322-701T>A
c.6322-701T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33558529
chr21:33558959 C
C
CT
CT
11 a0001c0001t0001g0033
a0001c0001t0001g0061
a0001c0001t0001g0084
others(8): Show 
a0001c0001t0001g0033
a0001c0001t0001g0061
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0105
a0001c0001t0001g0169
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0049t0002g0201
a0008c0013t0001g0079
a0023c0043t0001g0033
11 HG00280.hp2
HG00735.hp2
HG00738.hp2
others(8): Show 
HG00280.hp2
HG00735.hp2
HG00738.hp2
HG01255.hp1
HG01981.hp1
HG02055.hp1
HG03831.hp1
HG03927.hp2
NA18956.hp1
NA18998.hp2
NA19059.hp1
intron_variant MODIFIER c.6322-248dupT
c.6322-248dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 INFO_REALIGN_3_PRIME chr21 33558959
chr21:33558959 CT
CT
C
C
88 a0001c0001t0001g0011
a0001c0001t0001g0044
a0001c0001t0001g0055
others(85): Show 
a0001c0001t0001g0011
a0001c0001t0001g0044
a0001c0001t0001g0055
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0225
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0172
a0002c0003t0001g0174
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0031t0001g0047
a0003c0004t0002g0198
a0005c0026t0001g0002
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0018t0001g0002
a0008c0024t0001g0002
a0013c0020t0001g0178
a0019c0041t0001g0115
a0026c0051t0001g0067
a0027c0052t0001g0069
128 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(125): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01981.hp2
HG02015.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02129.hp2
HG02135.hp2
HG02155.hp2
HG02273.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02738.hp2
HG02896.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03492.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03942.hp1
HG04184.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18990.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA19002.hp1
NA19006.hp2
NA19011.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19076.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6322-248delT
c.6322-248delT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 INFO_REALIGN_3_PRIME chr21 33558959
chr21:33558959 CTT
CTT
C
C
6 a0001c0001t0001g0068
a0001c0002t0001g0039
a0001c0002t0001g0073
others(3): Show 
a0001c0001t0001g0068
a0001c0002t0001g0039
a0001c0002t0001g0073
a0001c0002t0001g0130
a0001c0002t0001g0144
a0002c0003t0001g0175
7 HG02258.hp2
NA18954.hp2
NA18964.hp1
others(4): Show 
HG02258.hp2
NA18954.hp2
NA18964.hp1
NA18982.hp2
NA18987.hp2
NA19004.hp2
NA19059.hp2
intron_variant MODIFIER c.6322-249_6322-248d
others(4): Show 
c.6322-249_6322-248delTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 INFO_REALIGN_3_PRIME chr21 33558959
chr21:33558959 CTTTTTTT
CTTTTTTT
C
C
5 a0001c0001t0001g0020
a0001c0001t0001g0072
a0001c0001t0001g0075
others(2): Show 
a0001c0001t0001g0020
a0001c0001t0001g0072
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0161
7 HG01928.hp1
NA18941.hp2
NA18964.hp2
others(4): Show 
HG01928.hp1
NA18941.hp2
NA18964.hp2
NA19000.hp2
NA19064.hp2
NA19068.hp2
NA19084.hp1
intron_variant MODIFIER c.6322-254_6322-248d
others(9): Show 
c.6322-254_6322-248delTTTTTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 INFO_REALIGN_3_PRIME chr21 33558959
chr21:33558959 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
C
C
1 a0001c0002t0001g0071
a0001c0002t0001g0071
1 HG03669.hp2
HG03669.hp2
intron_variant MODIFIER c.6322-259_6322-248d
others(14): Show 
c.6322-259_6322-248delTTTTTTTTTTTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 INFO_REALIGN_3_PRIME chr21 33558959
chr21:33559109 A
A
G
G
1 a0001c0001t0001g0158
a0001c0001t0001g0158
1 HG03710.hp1
HG03710.hp1
intron_variant MODIFIER c.6322-121A>G
c.6322-121A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33559109
chr21:33559120 T
T
C
C
1 a0001c0001t0001g0075
a0001c0001t0001g0075
1 NA18941.hp2
NA18941.hp2
intron_variant MODIFIER c.6322-110T>C
c.6322-110T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33559120
chr21:33559148 T
T
C
C
2 a0001c0038t0001g0122
a0026c0051t0001g0067
a0001c0038t0001g0122
a0026c0051t0001g0067
2 HG01175.hp1
HG02970.hp1
HG01175.hp1
HG02970.hp1
intron_variant MODIFIER c.6322-82T>C
c.6322-82T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33559148
chr21:33559193 C
C
T
T
1 a0001c0038t0001g0122
a0001c0038t0001g0122
1 HG01175.hp1
HG01175.hp1
intron_variant MODIFIER c.6322-37C>T
c.6322-37C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 4/11 chr21 33559193
chr21:33559446 G
G
A
A
1 a0001c0001t0001g0087
a0001c0001t0001g0087
1 HG03540.hp2
HG03540.hp2
intron_variant MODIFIER c.6468+70G>A
c.6468+70G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 5/11 chr21 33559446
chr21:33559545 A
A
C
C
2 a0001c0001t0001g0112
a0001c0001t0001g0165
a0001c0001t0001g0112
a0001c0001t0001g0165
2 HG02071.hp2
HG02165.hp2
HG02071.hp2
HG02165.hp2
intron_variant MODIFIER c.6469-42A>C
c.6469-42A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 5/11 chr21 33559545
chr21:33560195 G
G
T
T
1 a0019c0041t0001g0115
a0019c0041t0001g0115
1 HG00738.hp1
HG00738.hp1
intron_variant MODIFIER c.6657+420G>T
c.6657+420G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33560195
chr21:33560514 C
C
T
T
1 a0001c0001t0001g0098
a0001c0001t0001g0098
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.6657+739C>T
c.6657+739C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33560514
chr21:33560528 A
A
G
G
1 a0001c0016t0001g0124
a0001c0016t0001g0124
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.6657+753A>G
c.6657+753A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33560528
chr21:33560889 G
G
C
C
2 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0016
a0001c0001t0001g0119
5 HG02647.hp1
HG02886.hp1
HG02896.hp1
others(2): Show 
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG03209.hp2
NA21309.hp1
intron_variant MODIFIER c.6657+1114G>C
c.6657+1114G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33560889
chr21:33561099 A
A
G
G
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG01884.hp1
HG01884.hp1
intron_variant MODIFIER c.6657+1324A>G
c.6657+1324A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561099
chr21:33561150 A
A
C
C
1 a0001c0001t0001g0060
a0001c0001t0001g0060
1 HG02647.hp2
HG02647.hp2
intron_variant MODIFIER c.6657+1375A>C
c.6657+1375A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561150
chr21:33561262 C
C
T
T
1 a0018c0040t0001g0208
a0018c0040t0001g0208
1 NA18979.hp2
NA18979.hp2
intron_variant MODIFIER c.6657+1487C>T
c.6657+1487C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561262
chr21:33561326 ATCT
ATCT
A
A
5 a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0120
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0120
a0001c0001t0001g0154
a0001c0001t0001g0155
9 HG02886.hp2
HG02965.hp2
HG03453.hp2
others(6): Show 
HG02886.hp2
HG02965.hp2
HG03453.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.6657+1556_6657+155
others(7): Show 
c.6657+1556_6657+1558delCTT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 INFO_REALIGN_3_PRIME chr21 33561326
chr21:33561371 C
C
G
G
1 a0001c0002t0001g0139
a0001c0002t0001g0139
1 HG01934.hp1
HG01934.hp1
intron_variant MODIFIER c.6657+1596C>G
c.6657+1596C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561371
chr21:33561622 G
G
T
T
1 a0007c0007t0001g0180
a0007c0007t0001g0180
1 HG01975.hp1
HG01975.hp1
intron_variant MODIFIER c.6657+1847G>T
c.6657+1847G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561622
chr21:33561623 A
A
T
T
1 a0007c0007t0001g0180
a0007c0007t0001g0180
1 HG01975.hp1
HG01975.hp1
intron_variant MODIFIER c.6657+1848A>T
c.6657+1848A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561623
chr21:33561788 A
A
C
C
1 a0004c0005t0001g0103
a0004c0005t0001g0103
1 HG02818.hp1
HG02818.hp1
intron_variant MODIFIER c.6657+2013A>C
c.6657+2013A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561788
chr21:33561836 A
A
T
T
1 a0003c0049t0002g0201
a0003c0049t0002g0201
1 HG03831.hp1
HG03831.hp1
intron_variant MODIFIER c.6657+2061A>T
c.6657+2061A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561836
chr21:33561953 G
G
C
C
1 a0002c0003t0001g0176
a0002c0003t0001g0176
1 NA19086.hp2
NA19086.hp2
intron_variant MODIFIER c.6657+2178G>C
c.6657+2178G>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561953
chr21:33561983 A
A
G
G
1 a0001c0001t0001g0225
a0001c0001t0001g0225
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.6657+2208A>G
c.6657+2208A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33561983
chr21:33562231 T
T
G
G
1 a0001c0001t0001g0088
a0001c0001t0001g0088
1 NA19091.hp2
NA19091.hp2
intron_variant MODIFIER c.6657+2456T>G
c.6657+2456T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33562231
chr21:33562867 C
C
T
T
57 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0010
others(54): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0010
a0001c0001t0001g0014
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0104
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0021t0001g0010
a0001c0053t0001g0057
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0028t0001g0019
a0008c0013t0001g0056
a0008c0013t0001g0079
a0010c0050t0006g0107
a0023c0043t0001g0033
a0028c0054t0001g0028
92 HG00597.hp1
HG00597.hp2
HG00621.hp2
others(89): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01928.hp1
HG01934.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02145.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02630.hp1
HG02647.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03942.hp2
HG04115.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18978.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA20905.hp1
intron_variant MODIFIER c.6657+3092C>T
c.6657+3092C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33562867
chr21:33562894 A
A
G
G
1 a0001c0009t0001g0212
a0001c0009t0001g0212
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.6657+3119A>G
c.6657+3119A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33562894
chr21:33563176 C
C
T
T
5 a0001c0002t0001g0012
a0001c0002t0001g0144
a0001c0002t0001g0146
others(2): Show 
a0001c0002t0001g0012
a0001c0002t0001g0144
a0001c0002t0001g0146
a0001c0002t0001g0150
a0001c0023t0001g0012
8 NA18971.hp1
NA18977.hp2
NA18980.hp2
others(5): Show 
NA18971.hp1
NA18977.hp2
NA18980.hp2
NA18982.hp2
NA19058.hp2
NA19080.hp2
NA19082.hp1
NA19088.hp1
intron_variant MODIFIER c.6657+3401C>T
c.6657+3401C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563176
chr21:33563398 CCTCTTTA
others(42): Show 
CCTCTTTATATTTTAATATTTGCTAAATATTCTAAAATCATGTTTTATAT
C
C
46 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(43): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6657+3624_6657+367
others(53): Show 
c.6657+3624_6657+3672delCTCTTTATATTTTAATATTTGCTAAA
TATTCTAAAATCATGTTTTATAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563398
chr21:33563443 T
T
G
G
2 a0002c0003t0001g0172
a0002c0003t0001g0184
a0002c0003t0001g0172
a0002c0003t0001g0184
2 NA18963.hp2
NA19011.hp2
NA18963.hp2
NA19011.hp2
intron_variant MODIFIER c.6657+3668T>G
c.6657+3668T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563443
chr21:33563449 C
C
G
G
46 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(43): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6657+3674C>G
c.6657+3674C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563449
chr21:33563709 A
A
C
C
1 a0002c0003t0001g0218
a0002c0003t0001g0218
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.6658-3448A>C
c.6658-3448A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563709
chr21:33563800 T
T
C
C
1 a0003c0004t0001g0203
a0003c0004t0001g0203
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.6658-3357T>C
c.6658-3357T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563800
chr21:33563852 T
T
C
C
1 a0001c0045t0005g0153
a0001c0045t0005g0153
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.6658-3305T>C
c.6658-3305T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563852
chr21:33563878 A
A
G
G
1 a0002c0003t0001g0202
a0002c0003t0001g0202
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.6658-3279A>G
c.6658-3279A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33563878
chr21:33564167 C
C
T
T
1 a0005c0008t0001g0164
a0005c0008t0001g0164
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.6658-2990C>T
c.6658-2990C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564167
chr21:33564263 G
G
T
T
1 a0001c0001t0001g0036
a0001c0001t0001g0036
2 HG03041.hp1
HG03098.hp1
HG03041.hp1
HG03098.hp1
intron_variant MODIFIER c.6658-2894G>T
c.6658-2894G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564263
chr21:33564664 C
C
G
G
1 a0007c0007t0001g0179
a0007c0007t0001g0179
1 HG00323.hp1
HG00323.hp1
intron_variant MODIFIER c.6658-2493C>G
c.6658-2493C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564664
chr21:33564717 G
G
A
A
1 a0001c0001t0001g0091
a0001c0001t0001g0091
1 NA18945.hp2
NA18945.hp2
intron_variant MODIFIER c.6658-2440G>A
c.6658-2440G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564717
chr21:33564861 C
C
CA
CA
119 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0013
others(116): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0087
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0105
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0038t0001g0122
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0213
a0002c0003t0001g0214
a0003c0004t0001g0170
a0003c0004t0001g0204
a0003c0004t0001g0216
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0181
a0008c0013t0001g0056
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0016c0037t0001g0199
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
168 HG00280.hp1
HG00323.hp2
HG00544.hp1
others(165): Show 
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18942.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp2
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19002.hp2
NA19006.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.6658-2276dupA
c.6658-2276dupA
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 INFO_REALIGN_3_PRIME chr21 33564861
chr21:33564861 C
C
CAA
CAA
9 a0001c0001t0001g0018
a0001c0002t0001g0131
a0001c0002t0001g0140
others(6): Show 
a0001c0001t0001g0018
a0001c0002t0001g0131
a0001c0002t0001g0140
a0001c0002t0001g0148
a0001c0010t0001g0034
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0036t0001g0117
a0027c0052t0001g0069
12 HG01109.hp1
HG02145.hp2
HG02257.hp2
others(9): Show 
HG01109.hp1
HG02145.hp2
HG02257.hp2
HG02809.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03831.hp2
NA18906.hp2
NA19000.hp1
NA19030.hp2
NA19076.hp1
intron_variant MODIFIER c.6658-2277_6658-227
others(6): Show 
c.6658-2277_6658-2276dupAA
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 INFO_REALIGN_3_PRIME chr21 33564861
chr21:33564882 T
T
A
A
3 a0001c0001t0001g0061
a0001c0001t0001g0063
a0008c0013t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0008c0013t0001g0056
3 HG00735.hp2
HG02970.hp2
HG03195.hp2
HG00735.hp2
HG02970.hp2
HG03195.hp2
intron_variant MODIFIER c.6658-2275T>A
c.6658-2275T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564882
chr21:33564889 A
A
T
T
1 a0001c0001t0001g0106
a0001c0001t0001g0106
1 HG02015.hp2
HG02015.hp2
intron_variant MODIFIER c.6658-2268A>T
c.6658-2268A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564889
chr21:33564965 A
A
G
G
1 a0004c0005t0001g0100
a0004c0005t0001g0100
1 HG02486.hp1
HG02486.hp1
intron_variant MODIFIER c.6658-2192A>G
c.6658-2192A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33564965
chr21:33565153 C
C
T
T
1 a0004c0005t0001g0038
a0004c0005t0001g0038
2 HG03486.hp2
NA21309.hp2
HG03486.hp2
NA21309.hp2
intron_variant MODIFIER c.6658-2004C>T
c.6658-2004C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565153
chr21:33565231 G
G
A
A
12 a0001c0001t0001g0116
a0001c0010t0001g0034
a0001c0010t0001g0108
others(9): Show 
a0001c0001t0001g0116
a0001c0010t0001g0034
a0001c0010t0001g0108
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
17 HG01106.hp1
HG01891.hp2
HG01975.hp2
others(14): Show 
HG01106.hp1
HG01891.hp2
HG01975.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG03041.hp2
HG03486.hp2
HG06807.hp1
NA19043.hp2
NA21309.hp2
intron_variant MODIFIER c.6658-1926G>A
c.6658-1926G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565231
chr21:33565652 A
A
G
G
1 a0001c0001t0001g0032
a0001c0001t0001g0032
2 NA18991.hp2
NA19085.hp1
NA18991.hp2
NA19085.hp1
intron_variant MODIFIER c.6658-1505A>G
c.6658-1505A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565652
chr21:33565703 A
A
G
G
1 a0003c0004t0001g0195
a0003c0004t0001g0195
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.6658-1454A>G
c.6658-1454A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565703
chr21:33565886 T
T
A
A
1 a0001c0002t0001g0146
a0001c0002t0001g0146
1 NA19088.hp1
NA19088.hp1
intron_variant MODIFIER c.6658-1271T>A
c.6658-1271T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565886
chr21:33565909 A
A
G
G
1 a0003c0004t0001g0207
a0003c0004t0001g0207
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.6658-1248A>G
c.6658-1248A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565909
chr21:33565963 G
G
A
A
1 a0001c0025t0001g0149
a0001c0025t0001g0149
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.6658-1194G>A
c.6658-1194G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33565963
chr21:33566035 C
C
T
T
1 a0004c0005t0001g0125
a0004c0005t0001g0125
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.6658-1122C>T
c.6658-1122C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566035
chr21:33566093 C
C
T
T
1 a0001c0001t0001g0065
a0001c0001t0001g0065
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.6658-1064C>T
c.6658-1064C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566093
chr21:33566323 A
A
C
C
1 a0001c0002t0001g0137
a0001c0002t0001g0137
1 HG00280.hp1
HG00280.hp1
intron_variant MODIFIER c.6658-834A>C
c.6658-834A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566323
chr21:33566375 T
T
A
A
1 a0001c0001t0001g0093
a0001c0001t0001g0093
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.6658-782T>A
c.6658-782T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566375
chr21:33566434 C
C
T
T
1 a0001c0001t0001g0163
a0001c0001t0001g0163
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.6658-723C>T
c.6658-723C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566434
chr21:33566536 A
A
ATAT
ATAT
241 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(238): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0204
a0003c0004t0001g0206
a0003c0004t0001g0210
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
354 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(351): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.6658-620_6658-618d
others(5): Show 
c.6658-620_6658-618dupTAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 INFO_REALIGN_3_PRIME chr21 33566536
chr21:33566676 G
G
A
A
1 a0001c0002t0001g0159
a0001c0002t0001g0159
1 HG03654.hp1
HG03654.hp1
intron_variant MODIFIER c.6658-481G>A
c.6658-481G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566676
chr21:33566786 C
C
T
T
2 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0016
a0001c0001t0001g0119
5 HG02647.hp1
HG02886.hp1
HG02896.hp1
others(2): Show 
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG03209.hp2
NA21309.hp1
intron_variant MODIFIER c.6658-371C>T
c.6658-371C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566786
chr21:33566798 C
C
G
G
1 a0001c0001t0001g0161
a0001c0001t0001g0161
1 NA18964.hp2
NA18964.hp2
intron_variant MODIFIER c.6658-359C>G
c.6658-359C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566798
chr21:33566832 A
A
G
G
7 a0002c0003t0001g0047
a0002c0003t0001g0172
a0002c0003t0001g0173
others(4): Show 
a0002c0003t0001g0047
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0031t0001g0047
7 HG00438.hp2
HG02027.hp2
HG02074.hp1
others(4): Show 
HG00438.hp2
HG02027.hp2
HG02074.hp1
NA18948.hp2
NA18963.hp2
NA18990.hp2
NA19011.hp2
intron_variant MODIFIER c.6658-325A>G
c.6658-325A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566832
chr21:33566856 G
G
T
T
1 a0013c0020t0001g0178
a0013c0020t0001g0178
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.6658-301G>T
c.6658-301G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566856
chr21:33566998 T
T
G
G
2 a0002c0003t0001g0182
a0002c0003t0001g0187
a0002c0003t0001g0182
a0002c0003t0001g0187
2 HG02738.hp2
HG03704.hp1
HG02738.hp2
HG03704.hp1
intron_variant MODIFIER c.6658-159T>G
c.6658-159T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33566998
chr21:33567084 A
A
G
G
49 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(46): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
69 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(66): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02735.hp1
HG03453.hp1
HG03490.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6658-73A>G
c.6658-73A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 6/11 chr21 33567084
chr21:33567285 A
A
T
T
1 a0002c0003t0001g0214
a0002c0003t0001g0214
1 HG03516.hp1
HG03516.hp1
intron_variant MODIFIER c.6768+18A>T
c.6768+18A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567285
chr21:33567445 C
C
G
G
1 a0001c0011t0001g0035
a0001c0011t0001g0035
2 HG01516.hp2
HG01517.hp2
HG01516.hp2
HG01517.hp2
intron_variant MODIFIER c.6768+178C>G
c.6768+178C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567445
chr21:33567512 C
C
T
T
2 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0058
a0001c0001t0001g0059
2 HG01257.hp1
HG01258.hp1
HG01257.hp1
HG01258.hp1
intron_variant MODIFIER c.6768+245C>T
c.6768+245C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567512
chr21:33567535 C
C
G
G
1 a0001c0001t0001g0022
a0001c0001t0001g0022
3 NA18522.hp2
NA19043.hp1
NA20129.hp2
NA18522.hp2
NA19043.hp1
NA20129.hp2
intron_variant MODIFIER c.6768+268C>G
c.6768+268C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567535
chr21:33567694 C
C
A
A
2 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0058
a0001c0001t0001g0059
2 HG01257.hp1
HG01258.hp1
HG01257.hp1
HG01258.hp1
intron_variant MODIFIER c.6768+427C>A
c.6768+427C>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567694
chr21:33567869 C
C
T
T
46 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(43): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6768+602C>T
c.6768+602C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33567869
chr21:33568003 G
G
T
T
1 a0001c0001t0001g0162
a0001c0001t0001g0162
1 NA18970.hp1
NA18970.hp1
intron_variant MODIFIER c.6768+736G>T
c.6768+736G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568003
chr21:33568214 C
C
T
T
3 a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0038t0001g0122
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0038t0001g0122
3 HG01175.hp1
HG02257.hp2
HG03139.hp2
HG01175.hp1
HG02257.hp2
HG03139.hp2
intron_variant MODIFIER c.6769-757C>T
c.6769-757C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568214
chr21:33568360 C
C
T
T
15 a0001c0001t0001g0066
a0001c0001t0001g0116
a0001c0010t0001g0034
others(12): Show 
a0001c0001t0001g0066
a0001c0001t0001g0116
a0001c0010t0001g0034
a0001c0010t0001g0108
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0017c0039t0001g0053
a0022c0029t0001g0054
20 HG00741.hp2
HG01106.hp1
HG01884.hp1
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG03041.hp2
HG03486.hp2
HG06807.hp1
NA19043.hp2
NA21309.hp2
intron_variant MODIFIER c.6769-611C>T
c.6769-611C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568360
chr21:33568364 T
T
C
C
1 a0003c0004t0001g0206
a0003c0004t0001g0206
1 NA18956.hp2
NA18956.hp2
intron_variant MODIFIER c.6769-607T>C
c.6769-607T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568364
chr21:33568450 C
C
T
T
9 a0002c0003t0001g0004
a0002c0003t0001g0023
a0002c0003t0001g0050
others(6): Show 
a0002c0003t0001g0004
a0002c0003t0001g0023
a0002c0003t0001g0050
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0188
a0007c0007t0001g0064
a0013c0020t0001g0178
18 HG01358.hp1
HG01928.hp2
HG02155.hp2
others(15): Show 
HG01358.hp1
HG01928.hp2
HG02155.hp2
NA18941.hp1
NA18947.hp1
NA18959.hp1
NA18972.hp2
NA18975.hp2
NA18982.hp1
NA18998.hp1
NA19002.hp1
NA19004.hp2
NA19060.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA19086.hp2
NA20300.hp1
intron_variant MODIFIER c.6769-521C>T
c.6769-521C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568450
chr21:33568757 G
G
A
A
46 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(43): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
65 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(62): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6769-214G>A
c.6769-214G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568757
chr21:33568948 C
C
T
T
9 a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
others(6): Show 
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
13 HG01106.hp1
HG01891.hp2
HG01975.hp2
others(10): Show 
HG01106.hp1
HG01891.hp2
HG01975.hp2
HG02109.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02818.hp1
HG03486.hp2
HG06807.hp1
NA19043.hp2
NA21309.hp2
intron_variant MODIFIER c.6769-23C>T
c.6769-23C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 7/11 chr21 33568948
chr21:33569183 A
A
C
C
2 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0058
a0001c0001t0001g0059
2 HG01257.hp1
HG01258.hp1
HG01257.hp1
HG01258.hp1
intron_variant MODIFIER c.6885+96A>C
c.6885+96A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569183
chr21:33569194 A
A
C
C
1 a0003c0004t0002g0194
a0003c0004t0002g0194
1 HG01099.hp1
HG01099.hp1
intron_variant MODIFIER c.6885+107A>C
c.6885+107A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569194
chr21:33569517 A
A
G
G
2 a0001c0001t0001g0028
a0028c0054t0001g0028
a0001c0001t0001g0028
a0028c0054t0001g0028
2 HG01433.hp1
NA20905.hp1
HG01433.hp1
NA20905.hp1
intron_variant MODIFIER c.6885+430A>G
c.6885+430A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569517
chr21:33569555 G
G
A
A
1 a0026c0051t0001g0067
a0026c0051t0001g0067
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.6885+468G>A
c.6885+468G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569555
chr21:33569783 G
G
A
A
1 a0001c0001t0001g0094
a0001c0001t0001g0094
1 NA18948.hp1
NA18948.hp1
intron_variant MODIFIER c.6885+696G>A
c.6885+696G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569783
chr21:33569850 G
G
A
A
1 a0001c0045t0005g0153
a0001c0045t0005g0153
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.6885+763G>A
c.6885+763G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33569850
chr21:33570386 T
T
A
A
1 a0001c0001t0001g0083
a0001c0001t0001g0083
1 NA18978.hp1
NA18978.hp1
intron_variant MODIFIER c.6885+1299T>A
c.6885+1299T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33570386
chr21:33570613 A
A
G
G
1 a0001c0001t0001g0078
a0001c0001t0001g0078
1 HG00597.hp2
HG00597.hp2
intron_variant MODIFIER c.6885+1526A>G
c.6885+1526A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33570613
chr21:33570894 A
A
C
C
51 a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
others(48): Show 
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0027c0052t0001g0069
71 HG00280.hp1
HG00323.hp2
HG01069.hp2
others(68): Show 
HG00280.hp1
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01433.hp2
HG01934.hp1
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02735.hp1
HG03098.hp2
HG03453.hp1
HG03490.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19030.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19064.hp1
NA19076.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
intron_variant MODIFIER c.6885+1807A>C
c.6885+1807A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33570894
chr21:33571012 T
T
TAAGTA
TAAGTA
221 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0195
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0013c0020t0001g0178
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
328 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(325): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.6885+1927_6885+192
others(9): Show 
c.6885+1927_6885+1928insGTAAA
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33571012
chr21:33571177 C
C
G
G
1 a0027c0052t0001g0069
a0027c0052t0001g0069
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.6885+2090C>G
c.6885+2090C>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33571177
chr21:33571237 G
G
T
T
176 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(173): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0017c0039t0001g0053
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
260 HG00280.hp1
HG00323.hp2
HG00544.hp1
others(257): Show 
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.6886-2071G>T
c.6886-2071G>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33571237
chr21:33571616 G
G
A
A
3 a0001c0001t0001g0031
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0031
a0001c0001t0001g0076
a0001c0001t0001g0077
4 NA18947.hp2
NA18967.hp1
NA19063.hp2
others(1): Show 
NA18947.hp2
NA18967.hp1
NA19063.hp2
NA19079.hp2
intron_variant MODIFIER c.6886-1692G>A
c.6886-1692G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33571616
chr21:33571753 G
G
A
A
1 a0001c0002t0001g0132
a0001c0002t0001g0132
1 HG03710.hp2
HG03710.hp2
intron_variant MODIFIER c.6886-1555G>A
c.6886-1555G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33571753
chr21:33572181 T
T
A
A
1 a0017c0039t0001g0053
a0017c0039t0001g0053
1 HG00741.hp2
HG00741.hp2
intron_variant MODIFIER c.6886-1127T>A
c.6886-1127T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33572181
chr21:33572181 T
T
TTA
TTA
4 a0001c0002t0001g0071
a0001c0002t0001g0126
a0001c0002t0001g0133
others(1): Show 
a0001c0002t0001g0071
a0001c0002t0001g0126
a0001c0002t0001g0133
a0001c0002t0001g0143
4 HG01433.hp2
HG03492.hp2
HG03669.hp2
others(1): Show 
HG01433.hp2
HG03492.hp2
HG03669.hp2
NA18986.hp1
intron_variant MODIFIER c.6886-1105_6886-110
others(6): Show 
c.6886-1105_6886-1104dupAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572181
chr21:33572181 T
T
TTATA
TTATA
2 a0001c0002t0001g0039
a0001c0002t0001g0073
a0001c0002t0001g0039
a0001c0002t0001g0073
3 NA18964.hp1
NA18987.hp2
NA19059.hp2
NA18964.hp1
NA18987.hp2
NA19059.hp2
intron_variant MODIFIER c.6886-1107_6886-110
others(8): Show 
c.6886-1107_6886-1104dupATAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572181
chr21:33572181 TTA
TTA
T
T
159 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(156): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0065
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0021t0001g0010
a0001c0036t0001g0117
a0001c0038t0001g0122
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0223
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0005c0008t0001g0030
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0079
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
244 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(241): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19059.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.6886-1105_6886-110
others(6): Show 
c.6886-1105_6886-1104delAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572181
chr21:33572181 TTATA
TTATA
T
T
3 a0001c0001t0001g0066
a0001c0016t0001g0124
a0001c0045t0005g0153
a0001c0001t0001g0066
a0001c0016t0001g0124
a0001c0045t0005g0153
3 HG00639.hp1
HG01884.hp1
HG02257.hp2
HG00639.hp1
HG01884.hp1
HG02257.hp2
intron_variant MODIFIER c.6886-1107_6886-110
others(8): Show 
c.6886-1107_6886-1104delATAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572181
chr21:33572181 TTATATA
TTATATA
T
T
11 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0029
others(8): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0029
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0005c0028t0001g0019
a0008c0013t0001g0056
15 HG00735.hp2
HG01109.hp1
HG01243.hp1
others(12): Show 
HG00735.hp2
HG01109.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp1
HG02145.hp2
HG02258.hp1
HG02647.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
NA18906.hp2
intron_variant MODIFIER c.6886-1109_6886-110
others(10): Show 
c.6886-1109_6886-1104delATATAT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572181
chr21:33572183 A
A
T
T
7 a0001c0002t0001g0012
a0001c0002t0001g0136
a0001c0002t0001g0144
others(4): Show 
a0001c0002t0001g0012
a0001c0002t0001g0136
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0150
a0001c0023t0001g0012
10 NA18971.hp1
NA18977.hp2
NA18980.hp2
others(7): Show 
NA18971.hp1
NA18977.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA19058.hp2
NA19080.hp2
NA19082.hp1
NA19085.hp2
NA19088.hp1
intron_variant MODIFIER c.6886-1125A>T
c.6886-1125A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33572183
chr21:33572278 A
A
G
G
1 a0001c0001t0001g0110
a0001c0001t0001g0110
1 HG03516.hp2
HG03516.hp2
intron_variant MODIFIER c.6886-1030A>G
c.6886-1030A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33572278
chr21:33572699 T
T
A
A
1 a0001c0001t0001g0096
a0001c0001t0001g0096
1 HG02273.hp2
HG02273.hp2
intron_variant MODIFIER c.6886-609T>A
c.6886-609T>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 chr21 33572699
chr21:33572768 G
G
GT
GT
9 a0001c0001t0001g0032
a0001c0002t0001g0135
a0001c0009t0001g0027
others(6): Show 
a0001c0001t0001g0032
a0001c0002t0001g0135
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0034t0001g0027
a0002c0003t0001g0192
a0003c0004t0001g0216
11 HG02145.hp1
HG02559.hp1
HG03453.hp1
others(8): Show 
HG02145.hp1
HG02559.hp1
HG03453.hp1
HG03579.hp2
NA18967.hp2
NA18978.hp2
NA18981.hp1
NA18984.hp2
NA18991.hp2
NA18992.hp1
NA19085.hp1
intron_variant MODIFIER c.6886-525dupT
c.6886-525dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572768
chr21:33572768 GT
GT
G
G
14 a0001c0001t0001g0116
a0001c0002t0001g0134
a0001c0010t0001g0034
others(11): Show 
a0001c0001t0001g0116
a0001c0002t0001g0134
a0001c0010t0001g0034
a0001c0010t0001g0108
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0012c0044t0001g0209
19 HG01106.hp1
HG01256.hp1
HG01891.hp2
others(16): Show 
HG01106.hp1
HG01256.hp1
HG01891.hp2
HG01975.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG03041.hp2
HG03486.hp2
HG06807.hp1
NA18987.hp1
NA19043.hp2
NA21309.hp2
intron_variant MODIFIER c.6886-525delT
c.6886-525delT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 8/11 INFO_REALIGN_3_PRIME chr21 33572768
chr21:33573589 A
A
T
T
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.7033+134A>T
c.7033+134A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33573589
chr21:33573820 T
T
G
G
1 a0001c0001t0001g0086
a0001c0001t0001g0086
1 NA18963.hp1
NA18963.hp1
intron_variant MODIFIER c.7033+365T>G
c.7033+365T>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33573820
chr21:33573871 TG
TG
T
T
249 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(246): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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.7033+418delG
c.7033+418delG
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 INFO_REALIGN_3_PRIME chr21 33573871
chr21:33573976 C
C
T
T
1 a0003c0004t0001g0203
a0003c0004t0001g0203
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.7033+521C>T
c.7033+521C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33573976
chr21:33574593 A
A
G
G
1 a0002c0003t0001g0049
a0002c0003t0001g0049
2 HG01106.hp2
HG02683.hp1
HG01106.hp2
HG02683.hp1
intron_variant MODIFIER c.7034-1003A>G
c.7034-1003A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33574593
chr21:33574703 G
G
A
A
2 a0003c0004t0001g0205
a0003c0004t0001g0207
a0003c0004t0001g0205
a0003c0004t0001g0207
2 NA20805.hp1
homoSapiens_chm13v2.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.7034-893G>A
c.7034-893G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33574703
chr21:33574932 C
C
T
T
3 a0001c0001t0001g0014
a0001c0001t0001g0085
a0005c0015t0001g0111
a0001c0001t0001g0014
a0001c0001t0001g0085
a0005c0015t0001g0111
6 HG01981.hp1
NA18962.hp2
NA19004.hp1
others(3): Show 
HG01981.hp1
NA18962.hp2
NA19004.hp1
NA19009.hp2
NA19060.hp1
NA19086.hp1
intron_variant MODIFIER c.7034-664C>T
c.7034-664C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33574932
chr21:33575236 A
A
T
T
1 a0004c0005t0001g0101
a0004c0005t0001g0101
1 HG01106.hp1
HG01106.hp1
intron_variant MODIFIER c.7034-360A>T
c.7034-360A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33575236
chr21:33575282 C
C
T
T
27 a0001c0002t0001g0002
a0001c0002t0001g0007
a0001c0002t0001g0039
others(24): Show 
a0001c0002t0001g0002
a0001c0002t0001g0007
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0128
a0001c0002t0001g0130
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0140
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0147
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0019t0001g0002
a0001c0022t0001g0007
a0001c0047t0001g0007
a0005c0026t0001g0002
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
37 HG00323.hp2
HG01069.hp2
HG01074.hp1
others(34): Show 
HG00323.hp2
HG01069.hp2
HG01074.hp1
HG01433.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03942.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp2
NA18964.hp1
NA18974.hp1
NA18975.hp1
NA18979.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp2
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA19000.hp1
NA19006.hp2
NA19054.hp1
NA19058.hp1
NA19059.hp2
NA19064.hp1
NA19081.hp2
NA19091.hp1
NA20805.hp2
intron_variant MODIFIER c.7034-314C>T
c.7034-314C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33575282
chr21:33575283 G
G
A
A
2 a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0016t0001g0123
a0001c0016t0001g0124
2 HG02257.hp2
HG03139.hp2
HG02257.hp2
HG03139.hp2
intron_variant MODIFIER c.7034-313G>A
c.7034-313G>A
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33575283
chr21:33575396 T
T
C
C
1 a0001c0045t0005g0153
a0001c0045t0005g0153
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.7034-200T>C
c.7034-200T>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33575396
chr21:33575550 A
A
C
C
44 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0010
others(41): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0010
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0065
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0104
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0021t0001g0010
a0005c0008t0001g0222
a0005c0015t0001g0111
a0008c0013t0001g0079
a0010c0050t0006g0107
a0023c0043t0001g0033
a0028c0054t0001g0028
75 HG00597.hp1
HG00597.hp2
HG00621.hp2
others(72): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00738.hp2
HG01081.hp2
HG01167.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01928.hp1
HG01934.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02165.hp1
HG02273.hp2
HG03017.hp1
HG03139.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03942.hp2
HG04115.hp1
NA18612.hp2
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18974.hp2
NA18978.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19076.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA20905.hp1
intron_variant MODIFIER c.7034-46A>C
c.7034-46A>C
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 9/11 chr21 33575550
chr21:33575721 A
A
T
T
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.7105+54A>T
c.7105+54A>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 10/11 chr21 33575721
chr21:33576112 A
A
G
G
1 a0001c0001t0001g0098
a0001c0001t0001g0098
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.7221+219A>G
c.7221+219A>G
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 11/11 chr21 33576112
chr21:33576152 C
C
T
T
1 a0026c0051t0001g0067
a0026c0051t0001g0067
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.7222-213C>T
c.7222-213C>T
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 11/11 chr21 33576152
chr21:33576188 C
C
CT
CT
249 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(246): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
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HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
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HG01243.hp1
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HG01257.hp1
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HG01261.hp1
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HG01346.hp1
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HG02165.hp1
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HG02258.hp1
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HG02486.hp1
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HG02602.hp1
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HG02683.hp1
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HG02922.hp1
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HG04184.hp1
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NA18906.hp1
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NA18960.hp1
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NA18964.hp1
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NA18967.hp1
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NA18968.hp1
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NA18970.hp1
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NA18972.hp1
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NA18978.hp1
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NA18980.hp1
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NA19079.hp1
NA19079.hp2
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NA19081.hp1
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NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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.7222-176dupT
c.7222-176dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 11/11 INFO_REALIGN_3_PRIME chr21 33576188
chr21:33576202 C
C
CT
CT
249 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(246): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
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NA18948.hp1
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NA18951.hp1
NA18951.hp2
NA18953.hp1
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NA18954.hp1
NA18954.hp2
NA18956.hp1
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NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
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NA18974.hp1
NA18974.hp2
NA18975.hp1
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NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
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NA18984.hp1
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NA18986.hp1
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NA18987.hp1
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NA18990.hp1
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NA18991.hp1
NA18991.hp2
NA18992.hp1
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NA18995.hp1
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NA19000.hp1
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NA19002.hp1
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NA19004.hp1
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NA19011.hp1
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NA19057.hp1
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NA19058.hp1
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NA19059.hp1
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NA19060.hp1
NA19060.hp2
NA19063.hp1
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NA19064.hp1
NA19064.hp2
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NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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.7222-160dupT
c.7222-160dupT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 11/11 INFO_REALIGN_3_PRIME chr21 33576202
chr21:33576225 C
C
CT
CT
249 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
others(246): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0003g0003
a0001c0002t0001g0002
a0001c0002t0001g0006
a0001c0002t0001g0007
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0041
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0129
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0132
a0001c0002t0001g0133
a0001c0002t0001g0134
a0001c0002t0001g0135
a0001c0002t0001g0136
a0001c0002t0001g0137
a0001c0002t0001g0138
a0001c0002t0001g0139
a0001c0002t0001g0140
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0143
a0001c0002t0001g0144
a0001c0002t0001g0145
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0148
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0152
a0001c0002t0001g0159
a0001c0009t0001g0027
a0001c0009t0001g0212
a0001c0010t0001g0034
a0001c0010t0001g0108
a0001c0011t0001g0005
a0001c0011t0001g0035
a0001c0012t0001g0082
a0001c0012t0001g0097
a0001c0014t0001g0001
a0001c0016t0001g0123
a0001c0016t0001g0124
a0001c0019t0001g0002
a0001c0021t0001g0010
a0001c0022t0001g0007
a0001c0023t0001g0012
a0001c0025t0001g0149
a0001c0034t0001g0027
a0001c0036t0001g0117
a0001c0038t0001g0122
a0001c0045t0005g0153
a0001c0047t0001g0007
a0001c0053t0001g0057
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0017
a0002c0003t0001g0023
a0002c0003t0001g0024
a0002c0003t0001g0046
a0002c0003t0001g0047
a0002c0003t0001g0049
a0002c0003t0001g0050
a0002c0003t0001g0051
a0002c0003t0001g0052
a0002c0003t0001g0172
a0002c0003t0001g0173
a0002c0003t0001g0174
a0002c0003t0001g0175
a0002c0003t0001g0176
a0002c0003t0001g0177
a0002c0003t0001g0182
a0002c0003t0001g0183
a0002c0003t0001g0184
a0002c0003t0001g0185
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0188
a0002c0003t0001g0189
a0002c0003t0001g0191
a0002c0003t0001g0192
a0002c0003t0001g0202
a0002c0003t0001g0213
a0002c0003t0001g0214
a0002c0003t0001g0218
a0002c0003t0001g0223
a0002c0003t0001g0226
a0002c0031t0001g0047
a0003c0004t0001g0009
a0003c0004t0001g0025
a0003c0004t0001g0026
a0003c0004t0001g0170
a0003c0004t0001g0193
a0003c0004t0001g0195
a0003c0004t0001g0196
a0003c0004t0001g0197
a0003c0004t0001g0203
a0003c0004t0001g0204
a0003c0004t0001g0205
a0003c0004t0001g0206
a0003c0004t0001g0207
a0003c0004t0001g0210
a0003c0004t0001g0215
a0003c0004t0001g0216
a0003c0004t0001g0217
a0003c0004t0001g0219
a0003c0004t0001g0220
a0003c0004t0002g0194
a0003c0004t0002g0198
a0003c0004t0002g0200
a0003c0004t0002g0211
a0003c0049t0002g0201
a0004c0005t0001g0015
a0004c0005t0001g0038
a0004c0005t0001g0099
a0004c0005t0001g0100
a0004c0005t0001g0101
a0004c0005t0001g0102
a0004c0005t0001g0103
a0004c0005t0001g0113
a0004c0005t0001g0125
a0005c0008t0001g0030
a0005c0008t0001g0089
a0005c0008t0001g0164
a0005c0008t0001g0168
a0005c0008t0001g0222
a0005c0015t0001g0111
a0005c0015t0001g0157
a0005c0026t0001g0002
a0005c0028t0001g0019
a0005c0035t0001g0011
a0006c0006t0001g0008
a0006c0006t0001g0171
a0006c0006t0001g0181
a0006c0006t0001g0221
a0007c0007t0001g0048
a0007c0007t0001g0064
a0007c0007t0001g0179
a0007c0007t0001g0180
a0008c0013t0001g0056
a0008c0013t0001g0079
a0008c0018t0001g0002
a0008c0024t0001g0002
a0009c0017t0001g0040
a0010c0050t0006g0107
a0011c0046t0001g0190
a0012c0044t0001g0209
a0013c0020t0001g0178
a0014c0032t0001g0009
a0015c0033t0001g0026
a0016c0037t0001g0199
a0017c0039t0001g0053
a0018c0040t0001g0208
a0019c0041t0001g0115
a0021c0042t0001g0167
a0022c0029t0001g0054
a0023c0043t0001g0033
a0024c0027t0001g0005
a0025c0048t0001g0030
a0026c0051t0001g0067
a0027c0052t0001g0069
a0028c0054t0001g0028
363 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(360): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.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
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.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.7222-140_7222-139i
others(3): Show 
c.7222-140_7222-139insT
SON ENSG00000159140.23 transcript ENST00000356577.10 protein_coding 11/11 chr21 33576225

  • 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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