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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   COL17A1_chr10_104026286_104090880  COL17A1_chr10_104026286_104090880 (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 1308
ensemblid ENSG00000065618.21
hgncid 2194
symbol COL17A1
name collagen type XVII alpha 1 chain
refseq_nuc NM_000494.4
refseq_prot NP_000485.3
ensembl_nuc ENST00000648076.2
ensembl_prot ENSP00000497653.1
mane_status MANE Select
chr chr10
start 104031286
end 104085880
strand -
ver v1.2
region chr10:104031286-104085880
region5000 chr10:104026286-104090880
regionname0 COL17A1_chr10_104031286_104085880
regionname5000 COL17A1_chr10_104026286_104090880

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 1497 107 14 22 57 3 10 42 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002 1/0 1497 63 27 2 30 0 3 26 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003 0/0 1497 40 5 10 14 2 9 11 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004 0/0 1497 32 4 12 9 1 6 4 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005 0/0 1497 23 2 2 14 2 3 11 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006 0/0 1497 14 10 2 2 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007 0/0 1497 11 10 0 1 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0008 0/0 1497 9 2 1 6 0 0 6 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0009 0/0 1497 8 1 0 7 0 0 6 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010 0/0 1488 4 4 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0011 0/0 1497 3 0 0 3 0 0 3 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0012 0/0 1497 2 0 0 2 0 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0013 0/0 1497 2 2 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0014 0/0 1497 2 0 0 2 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0015 0/0 1497 1 0 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0016 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0017 0/0 1497 1 0 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0018 0/0 1497 1 0 0 1 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0019 0/0 1497 1 0 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0020 0/0 1497 1 0 0 1 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0021 0/0 1488 1 0 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0022 0/0 1497 1 0 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0023 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0024 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0025 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0026 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0027 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0028 0/0 1497 1 0 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0029 0/0 1497 1 0 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0030 0/0 1497 1 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 4494 77 4 18 45 3 6 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0002 0/0 4494 37 11 1 23 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0003 0/0 4494 37 3 10 14 2 8 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0004 0/0 4494 22 3 8 6 1 4 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0005 0/0 4494 17 0 2 11 2 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0006 0/0 4494 15 7 2 4 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0007 0/0 4494 11 6 0 4 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0008 0/0 4494 10 8 2 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0009 0/0 4494 9 1 3 3 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0010 1/0 4494 9 7 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0011 0/0 4494 8 7 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0012 0/0 4494 8 1 0 7 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0013 0/0 4494 6 0 1 5 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0014 0/0 4494 6 0 0 6 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0015 0/0 4494 5 2 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0016 0/0 4494 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0017 0/0 4494 3 2 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0018 0/0 4494 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0019 0/0 4494 3 1 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0020 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0021 0/0 4467 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0022 0/0 4494 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0023 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0024 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0025 0/0 4494 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0026 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0027 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0028 0/0 4467 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0029 0/0 4467 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0030 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0031 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0032 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0033 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0034 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0035 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0036 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0037 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0038 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0039 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0040 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0041 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0042 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0043 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0044 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0045 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0046 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0047 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0048 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0049 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0050 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0051 0/0 4467 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0052 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0053 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0054 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0055 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0056 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0057 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0058 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0059 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
c0060 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1119 219 44 35 111 7 20 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0002 0/0 1118 74 26 15 27 1 5 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0003 0/0 1118 23 5 2 7 0 9 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0004 0/0 1119 9 8 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0005 0/0 1119 5 0 0 5 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0006 0/0 1119 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0007 0/0 1118 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0008 0/0 1118 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0009 0/0 1118 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
t0010 0/0 1119 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/1 4 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0002 0/0 4 0 0 4 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0003 0/0 4 3 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0004 0/0 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0005 0/0 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0006 0/0 3 3 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0007 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0008 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0009 0/0 2 1 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0010 0/0 2 0 1 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0011 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0012 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0013 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0014 0/0 2 0 2 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0015 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0016 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0017 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0018 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0019 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0020 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0021 0/0 2 0 0 0 2 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0022 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0023 0/0 2 1 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0024 0/0 2 0 0 0 0 2 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0025 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0026 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0027 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0028 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0029 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0030 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0031 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0032 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0033 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0034 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0035 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0036 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0037 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0038 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0039 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0040 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0041 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0042 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0043 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0044 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0045 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0046 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0047 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0048 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0049 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0050 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0051 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0052 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0053 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0054 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0055 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0056 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0057 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0058 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0059 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0060 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0061 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0062 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0063 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0064 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0065 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0066 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0067 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0068 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0069 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0070 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0071 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0072 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0073 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0074 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0075 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0076 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0077 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0078 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0079 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0080 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0081 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0082 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0083 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0084 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0085 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0086 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0087 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0088 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0089 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0090 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0091 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0092 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0093 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0094 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0095 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0096 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0097 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0098 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0099 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0100 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0101 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0102 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0103 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0104 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0105 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0106 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0107 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0108 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0109 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0110 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0111 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0112 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0113 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0114 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0115 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0116 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0117 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0118 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0119 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0120 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0121 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0122 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0123 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0124 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0125 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0126 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0127 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0128 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0129 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0130 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0131 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0132 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0133 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0134 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0135 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0136 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0137 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0138 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0139 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0140 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0141 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0142 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0143 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0144 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0145 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0146 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0147 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0148 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0149 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0150 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0151 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0152 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0153 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0154 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0155 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0156 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0157 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0158 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0159 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0160 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0161 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0162 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0163 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0164 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0165 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0166 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0167 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0168 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0169 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0170 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0171 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0172 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0173 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0174 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0175 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0176 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0177 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0178 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0179 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0180 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0181 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0182 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0183 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0184 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0185 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0186 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0187 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0188 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0189 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0190 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0191 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0192 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0193 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0194 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0195 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0196 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0197 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0198 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0199 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0200 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0201 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0202 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0203 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0204 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0205 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0206 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0207 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0208 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0209 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0210 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0211 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0212 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0213 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0214 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0215 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0216 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0217 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0218 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0219 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0220 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0221 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0222 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0223 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0224 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0225 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0226 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0227 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0228 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0229 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0230 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0231 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0232 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0233 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0234 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0235 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0236 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0237 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0238 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0239 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0240 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0241 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0242 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0243 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0244 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0245 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0246 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0247 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0248 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0249 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0250 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0251 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0252 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0253 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0254 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0255 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0256 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0257 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0258 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0259 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0260 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0261 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0262 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0263 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0264 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0265 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0266 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0267 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0268 1/0 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0269 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0270 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0271 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0272 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0273 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0274 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0275 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0276 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0277 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0278 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0279 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0280 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0281 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0282 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0283 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0284 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0285 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0286 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0287 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0288 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0289 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0290 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0291 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0292 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0293 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0294 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0295 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0296 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0297 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0298 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0299 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0300 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
g0301 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 4494 77 4 18 45 3 6 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0006 0/0 4494 15 7 2 4 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0014 0/0 4494 6 0 0 6 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0024 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0026 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0049 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0050 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0052 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0053 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0057 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0060 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002 0/0 4494 37 11 1 23 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0007 0/0 4494 11 6 0 4 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0010 1/0 4494 9 7 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0018 0/0 4494 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0023 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0031 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0003 0/0 4494 37 3 10 14 2 8 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0020 0/0 4494 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0058 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0004 0/0 4494 22 3 8 6 1 4 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0009 0/0 4494 9 1 3 3 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0032 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0005 0/0 4494 17 0 2 11 2 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0015 0/0 4494 5 2 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0036 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0008 0/0 4494 10 8 2 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0019 0/0 4494 3 1 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0042 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0011 0/0 4494 8 7 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0034 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0035 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0038 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0008c0013 0/0 4494 6 0 1 5 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0008c0017 0/0 4494 3 2 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0009c0012 0/0 4494 8 1 0 7 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0021 0/0 4467 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0028 0/0 4467 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0029 0/0 4467 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0011c0016 0/0 4494 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0012c0025 0/0 4494 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0013c0027 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0013c0044 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0014c0022 0/0 4494 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0015c0030 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0016c0059 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0017c0046 0/0 4494 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0018c0055 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0019c0056 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0020c0054 0/0 4494 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0021c0051 0/0 4467 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0022c0048 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0023c0047 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0024c0039 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0025c0040 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0026c0041 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0027c0043 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0028c0045 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0029c0033 0/0 4494 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0030c0037 0/0 4494 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 5612 72 4 15 43 3 6 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0001t0002 0/0 5611 3 0 2 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0001t0003 0/0 5611 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0001t0010 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0006t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0006t0002 0/0 5611 10 4 2 2 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0006t0003 0/0 5611 2 1 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0006t0004 0/0 5612 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0014t0001 0/0 5612 6 0 0 6 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0024t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0024t0006 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0026t0004 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0049t0001 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0050t0001 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0052t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0053t0002 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0057t0001 0/0 5612 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0001c0060t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002t0002 0/0 5611 26 7 0 18 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002t0003 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002t0004 0/0 5612 4 3 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002t0005 0/0 5612 5 0 0 5 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0002t0008 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0007t0001 0/0 5612 10 6 0 4 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0007t0003 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0010t0001 1/0 5612 9 7 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0018t0001 0/0 5612 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0023t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0023t0004 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0002c0031t0006 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0003t0001 0/0 5612 35 3 9 13 2 8 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0003t0002 0/0 5611 2 0 1 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0020t0001 0/0 5612 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0003c0058t0001 0/0 5612 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0004t0001 0/0 5612 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0004t0002 0/0 5611 12 1 7 2 1 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0004t0003 0/0 5611 7 1 1 2 0 3 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0004t0007 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0009t0001 0/0 5612 8 1 2 3 0 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0009t0002 0/0 5611 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0004c0032t0002 0/0 5611 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0005t0001 0/0 5612 17 0 2 11 2 2 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0015t0002 0/0 5611 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0015t0003 0/0 5611 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0005c0036t0003 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0008t0002 0/0 5611 8 7 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0008t0003 0/0 5611 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0008t0009 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0019t0001 0/0 5612 3 1 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0006c0042t0002 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0011t0001 0/0 5612 8 7 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0034t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0035t0002 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0007c0038t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0008c0013t0001 0/0 5612 6 0 1 5 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0008c0017t0001 0/0 5612 3 2 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0009c0012t0001 0/0 5612 8 1 0 7 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0021t0001 0/0 5585 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0028t0001 0/0 5585 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0010c0029t0004 0/0 5585 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0011c0016t0002 0/0 5611 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0012c0025t0001 0/0 5612 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0013c0027t0003 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0013c0044t0003 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0014c0022t0001 0/0 5612 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0015c0030t0003 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0016c0059t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0017c0046t0003 0/0 5611 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0018c0055t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0019c0056t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0020c0054t0001 0/0 5612 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0021c0051t0003 0/0 5584 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0022c0048t0001 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0023c0047t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0024c0039t0003 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0025c0040t0002 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0026c0041t0001 0/0 5612 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0027c0043t0002 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0028c0045t0001 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0029c0033t0001 0/0 5612 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880
a0030c0037t0002 0/0 5611 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 copy fasta chr10 104026286 104090880

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/1 4 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0007 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0008 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0009 0/0 2 1 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0012 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0016 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0034 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0036 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0037 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0039 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0046 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0054 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0062 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0068 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0077 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0082 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0085 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0086 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0087 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0089 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0091 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0093 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0100 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0101 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0104 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0108 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0110 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0121 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0125 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0129 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0132 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0137 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0138 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0140 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0143 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0153 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0159 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0161 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0164 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0225 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0001g0244 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0002g0031 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0002g0057 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0002g0072 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0003g0038 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0001t0010g0133 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0001g0074 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0070 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0071 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0075 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0092 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0099 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0102 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0111 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0123 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0139 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0002g0208 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0003g0041 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0003g0044 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0004g0094 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0006t0004g0095 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0065 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0090 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0109 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0134 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0135 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0014t0001g0136 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0024t0001g0097 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0024t0006g0096 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0026t0004g0149 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0049t0001g0061 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0050t0001g0098 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0052t0001g0033 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0053t0002g0055 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0057t0001g0122 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0001c0060t0001g0142 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0002 0/0 4 0 0 4 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0018 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0035 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0165 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0168 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0169 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0171 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0173 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0174 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0175 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0176 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0182 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0184 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0187 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0265 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0272 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0291 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0292 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0293 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0296 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0297 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0002g0299 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0003g0274 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0004g0261 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0004g0262 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0004g0263 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0004g0271 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0005g0275 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0005g0277 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0005g0278 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0005g0279 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0005g0280 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0002t0008g0209 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0025 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0026 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0179 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0180 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0181 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0259 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0260 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0001g0276 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0007t0003g0177 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0006 0/0 3 3 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0028 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0266 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0267 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0268 1/0 1 0 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0269 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0010t0001g0270 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0018t0001g0167 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0018t0001g0172 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0018t0001g0186 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0023t0001g0286 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0023t0004g0030 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0002c0031t0006g0283 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0010 0/0 2 0 1 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0011 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0013 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0014 0/0 2 0 2 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0015 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0042 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0047 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0048 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0049 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0050 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0073 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0076 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0081 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0084 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0115 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0117 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0118 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0120 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0124 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0127 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0128 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0130 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0131 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0145 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0152 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0154 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0155 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0158 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0160 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0001g0162 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0002g0079 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0003t0002g0112 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0020t0001g0043 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0020t0001g0150 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0003c0058t0001g0126 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0001g0247 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0001g0249 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0023 0/0 2 1 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0211 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0216 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0219 0/0 1 0 0 0 1 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0220 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0222 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0230 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0235 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0236 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0241 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0002g0248 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0024 0/0 2 0 0 0 0 2 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0215 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0224 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0228 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0238 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0003g0239 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0004t0007g0218 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0022 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0217 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0221 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0233 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0234 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0243 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0001g0246 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0009t0002g0289 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0004c0032t0002g0226 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0005 0/0 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0020 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0021 0/0 2 0 0 0 2 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0194 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0199 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0201 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0202 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0203 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0204 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0205 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0206 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0207 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0005t0001g0240 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0015t0002g0256 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0015t0002g0257 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0015t0003g0196 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0015t0003g0197 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0015t0003g0198 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0005c0036t0003g0157 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0002g0003 0/0 4 3 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0002g0258 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0002g0281 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0002g0282 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0002g0295 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0003g0027 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0008t0009g0298 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0019t0001g0178 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0019t0001g0185 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0019t0001g0300 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0006c0042t0002g0294 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0019 0/0 2 2 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0189 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0190 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0191 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0192 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0193 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0011t0001g0200 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0034t0001g0264 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0035t0002g0285 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0007c0038t0001g0188 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0183 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0212 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0213 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0229 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0231 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0013t0001g0232 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0017t0001g0223 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0017t0001g0227 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0008c0017t0001g0245 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0004 0/0 3 0 0 3 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0032 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0146 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0147 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0148 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0009c0012t0001g0288 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0010c0021t0001g0251 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0010c0021t0001g0252 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0010c0028t0001g0254 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0010c0029t0004g0253 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0011c0016t0002g0017 0/0 2 0 0 2 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0011c0016t0002g0170 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0012c0025t0001g0106 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0012c0025t0001g0107 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0013c0027t0003g0250 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0013c0044t0003g0290 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0014c0022t0001g0210 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0014c0022t0001g0214 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0015c0030t0003g0237 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0016c0059t0001g0114 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0017c0046t0003g0116 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0018c0055t0001g0195 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0019c0056t0001g0063 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0020c0054t0001g0105 0/0 1 0 0 1 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0021c0051t0003g0069 0/0 1 0 0 0 0 1 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0022c0048t0001g0053 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0023c0047t0001g0156 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0024c0039t0003g0255 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0025c0040t0002g0287 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0026c0041t0001g0301 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0027c0043t0002g0273 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0028c0045t0001g0029 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0029c0033t0001g0242 0/0 1 0 1 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
a0030c0037t0002g0284 0/0 1 1 0 0 0 0 COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0125 EUR GBR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00140 hp2 a0001 c0001 t0001 g0137 EUR GBR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00280 hp1 a0003 c0003 t0001 g0010 EUR FIN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00280 hp2 a0005 c0005 t0001 g0021 EUR FIN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00423 hp1 a0001 c0001 t0001 g0001 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00423 hp2 a0002 c0007 t0001 g0181 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00544 hp1 a0001 c0001 t0001 g0012 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00544 hp2 a0002 c0002 t0005 g0279 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00558 hp1 a0001 c0001 t0002 g0057 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00558 hp2 a0005 c0005 t0001 g0005 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00609 hp1 a0004 c0004 t0001 g0249 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00609 hp2 a0001 c0001 t0001 g0051 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00621 hp1 a0001 c0001 t0001 g0132 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00621 hp2 a0006 c0019 t0001 g0178 EAS CHS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00639 hp1 a0001 c0006 t0002 g0099 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00639 hp2 a0001 c0001 t0001 g0037 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00642 hp1 a0001 c0001 t0001 g0138 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00642 hp2 a0001 c0001 t0001 g0141 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00738 hp1 a0004 c0004 t0003 g0215 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00738 hp2 a0029 c0033 t0001 g0242 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00741 hp1 a0003 c0003 t0001 g0014 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG00741 hp2 a0004 c0004 t0002 g0211 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01071 hp1 a0001 c0001 t0001 g0121 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01071 hp2 a0001 c0050 t0001 g0098 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01074 hp1 a0001 c0001 t0001 g0225 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01074 hp2 a0005 c0005 t0001 g0207 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01081 hp1 a0001 c0001 t0001 g0164 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01081 hp2 a0003 c0003 t0001 g0014 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01106 hp1 a0004 c0009 t0002 g0289 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01106 hp2 a0005 c0005 t0001 g0205 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01109 hp1 a0002 c0002 t0004 g0271 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01109 hp2 a0002 c0010 t0001 g0269 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01167 hp1 a0003 c0003 t0001 g0124 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01167 hp2 a0001 c0001 t0001 g0140 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01168 hp1 a0004 c0009 t0001 g0243 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01168 hp2 a0001 c0001 t0001 g0077 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01175 hp1 a0004 c0009 t0001 g0221 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01175 hp2 a0028 c0045 t0001 g0029 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01192 hp1 a0004 c0004 t0002 g0023 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01192 hp2 a0003 c0003 t0001 g0127 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01243 hp1 a0001 c0001 t0001 g0110 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01243 hp2 a0006 c0008 t0003 g0027 AMR PUR COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01255 hp1 a0001 c0049 t0001 g0061 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01255 hp2 a0004 c0004 t0002 g0220 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01346 hp1 a0004 c0004 t0002 g0216 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01346 hp2 a0003 c0003 t0001 g0010 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01358 hp1 a0001 c0001 t0001 g0093 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01358 hp2 a0006 c0008 t0002 g0003 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01433 hp1 a0001 c0001 t0002 g0031 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01433 hp2 a0001 c0006 t0002 g0070 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01496 hp1 a0022 c0048 t0001 g0053 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01496 hp2 a0001 c0001 t0010 g0133 AMR CLM COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01515 hp1 a0004 c0004 t0002 g0219 EUR IBS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01515 hp2 a0001 c0001 t0001 g0082 EUR IBS COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01884 hp1 a0010 c0021 t0001 g0251 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01884 hp2 a0001 c0006 t0002 g0139 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01891 hp1 a0007 c0011 t0001 g0193 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01891 hp2 a0003 c0020 t0001 g0150 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01928 hp1 a0004 c0004 t0002 g0235 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01928 hp2 a0001 c0001 t0001 g0100 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01952 hp1 a0001 c0001 t0001 g0161 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01952 hp2 a0003 c0003 t0001 g0073 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01975 hp1 a0001 c0001 t0002 g0072 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01975 hp2 a0003 c0003 t0001 g0162 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01993 hp1 a0001 c0001 t0001 g0159 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG01993 hp2 a0003 c0003 t0001 g0155 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02004 hp1 a0001 c0001 t0001 g0153 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02004 hp2 a0004 c0032 t0002 g0226 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02015 hp1 a0004 c0004 t0001 g0247 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02015 hp2 a0001 c0001 t0001 g0104 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02040 hp1 a0009 c0012 t0001 g0146 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02040 hp2 a0004 c0004 t0002 g0222 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02055 hp1 a0002 c0010 t0001 g0266 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02055 hp2 a0001 c0006 t0002 g0123 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02056 hp1 a0019 c0056 t0001 g0063 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02056 hp2 a0014 c0022 t0001 g0210 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02071 hp1 a0001 c0006 t0002 g0102 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02071 hp2 a0004 c0004 t0002 g0248 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02083 hp1 a0005 c0005 t0001 g0203 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02083 hp2 a0004 c0004 t0003 g0238 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02129 hp1 a0001 c0001 t0001 g0151 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02129 hp2 a0001 c0001 t0003 g0038 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02132 hp1 a0001 c0001 t0001 g0001 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02132 hp2 a0003 c0003 t0001 g0042 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02135 hp1 a0001 c0001 t0001 g0058 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02135 hp2 a0005 c0005 t0001 g0199 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02145 hp1 a0002 c0023 t0001 g0286 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02145 hp2 a0006 c0042 t0002 g0294 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02148 hp1 a0008 c0013 t0001 g0183 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02148 hp2 a0003 c0003 t0002 g0112 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02155 hp1 a0001 c0001 t0001 g0088 EAS CDX COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02155 hp2 a0002 c0002 t0005 g0280 EAS CDX COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02165 hp1 a0001 c0001 t0001 g0056 EAS CDX COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02165 hp2 a0003 c0003 t0001 g0154 EAS CDX COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02257 hp1 a0023 c0047 t0001 g0156 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02257 hp2 a0009 c0012 t0001 g0148 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02258 hp1 a0002 c0010 t0001 g0006 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02258 hp2 a0016 c0059 t0001 g0114 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02273 hp1 a0004 c0004 t0002 g0236 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02273 hp2 a0004 c0004 t0002 g0230 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02280 hp1 a0001 c0024 t0006 g0096 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02280 hp2 a0007 c0011 t0001 g0019 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02300 hp1 a0003 c0003 t0001 g0160 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02300 hp2 a0001 c0001 t0001 g0108 AMR PEL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02451 hp1 a0002 c0031 t0006 g0283 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02451 hp2 a0006 c0008 t0002 g0295 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02523 hp1 a0001 c0001 t0001 g0016 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02523 hp2 a0001 c0014 t0001 g0135 EAS KHV COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02572 hp1 a0001 c0006 t0002 g0111 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02572 hp2 a0002 c0010 t0001 g0270 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02602 hp1 a0021 c0051 t0003 g0069 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02602 hp2 a0001 c0001 t0001 g0143 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02615 hp1 a0002 c0007 t0001 g0026 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02615 hp2 a0003 c0003 t0001 g0084 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02622 hp1 a0006 c0008 t0002 g0282 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02622 hp2 a0002 c0002 t0004 g0261 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02647 hp1 a0005 c0015 t0002 g0256 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02647 hp2 a0003 c0003 t0001 g0145 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02683 hp1 a0005 c0036 t0003 g0157 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02683 hp2 a0001 c0006 t0002 g0075 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02717 hp1 a0002 c0007 t0001 g0026 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02717 hp2 a0002 c0010 t0001 g0006 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02723 hp1 a0002 c0002 t0002 g0293 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02723 hp2 a0007 c0011 t0001 g0191 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02735 hp1 a0001 c0001 t0001 g0034 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02735 hp2 a0005 c0005 t0001 g0206 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02738 hp1 a0001 c0057 t0001 g0122 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02738 hp2 a0003 c0003 t0001 g0048 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02809 hp1 a0001 c0001 t0001 g0087 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02809 hp2 a0004 c0004 t0002 g0023 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02818 hp1 a0001 c0001 t0001 g0101 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02818 hp2 a0004 c0004 t0007 g0218 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02886 hp1 a0001 c0024 t0001 g0097 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02886 hp2 a0006 c0008 t0002 g0003 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02895 hp1 a0006 c0008 t0002 g0281 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02895 hp2 a0002 c0007 t0001 g0025 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02896 hp1 a0010 c0029 t0004 g0253 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02896 hp2 a0002 c0002 t0002 g0292 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02897 hp1 a0002 c0002 t0002 g0291 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02897 hp2 a0002 c0007 t0001 g0025 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02922 hp1 a0007 c0035 t0002 g0285 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02922 hp2 a0008 c0017 t0001 g0227 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02965 hp1 a0002 c0002 t0008 g0209 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02965 hp2 a0004 c0009 t0001 g0233 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02970 hp1 a0007 c0011 t0001 g0189 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02970 hp2 a0001 c0006 t0004 g0094 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02976 hp1 a0003 c0020 t0001 g0043 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02976 hp2 a0002 c0002 t0004 g0263 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03017 hp1 a0001 c0001 t0001 g0009 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03017 hp2 a0002 c0002 t0002 g0272 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03041 hp1 a0010 c0028 t0001 g0254 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03041 hp2 a0001 c0026 t0004 g0149 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03098 hp1 a0002 c0002 t0004 g0262 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03098 hp2 a0001 c0006 t0002 g0092 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03139 hp1 a0002 c0010 t0001 g0028 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03139 hp2 a0007 c0011 t0001 g0019 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03195 hp1 a0024 c0039 t0003 g0255 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03195 hp2 a0013 c0044 t0003 g0290 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03225 hp1 a0006 c0008 t0002 g0003 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03225 hp2 a0007 c0038 t0001 g0188 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03239 hp1 a0004 c0004 t0003 g0024 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03239 hp2 a0003 c0003 t0001 g0120 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03453 hp1 a0003 c0003 t0001 g0128 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03453 hp2 a0002 c0007 t0001 g0260 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03490 hp1 a0003 c0003 t0001 g0117 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03490 hp2 a0001 c0001 t0001 g0054 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03491 hp1 a0001 c0053 t0002 g0055 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03491 hp2 a0017 c0046 t0003 g0116 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03516 hp1 a0010 c0021 t0001 g0252 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03516 hp2 a0002 c0002 t0002 g0265 AFR ESN COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03540 hp1 a0006 c0008 t0002 g0003 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03540 hp2 a0002 c0010 t0001 g0006 AFR GWD COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03579 hp1 a0007 c0011 t0001 g0190 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03579 hp2 a0002 c0002 t0002 g0296 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03688 hp1 a0001 c0001 t0001 g0085 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03688 hp2 a0002 c0007 t0003 g0177 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03704 hp1 a0003 c0003 t0001 g0049 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03704 hp2 a0001 c0006 t0002 g0071 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03710 hp1 a0003 c0003 t0001 g0047 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03710 hp2 a0015 c0030 t0003 g0237 SAS PJL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03831 hp1 a0004 c0004 t0003 g0024 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03831 hp2 a0003 c0058 t0001 g0126 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03927 hp1 a0004 c0009 t0001 g0234 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03927 hp2 a0003 c0003 t0001 g0081 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03942 hp1 a0005 c0005 t0001 g0240 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03942 hp2 a0004 c0009 t0001 g0217 SAS BEB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG04204 hp1 a0004 c0004 t0003 g0228 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG04204 hp2 a0003 c0003 t0001 g0050 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG04228 hp1 a0003 c0003 t0001 g0118 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG04228 hp2 a0004 c0004 t0002 g0241 SAS STU COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18522 hp1 a0005 c0015 t0002 g0257 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18522 hp2 a0002 c0010 t0001 g0267 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18747 hp1 a0003 c0003 t0001 g0152 EAS CHB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18747 hp2 a0002 c0002 t0005 g0277 EAS CHB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18906 hp1 a0002 c0002 t0002 g0297 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18906 hp2 a0006 c0008 t0002 g0258 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18939 hp1 a0001 c0001 t0001 g0016 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18939 hp2 a0005 c0015 t0003 g0196 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18942 hp1 a0001 c0001 t0001 g0008 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18942 hp2 a0007 c0011 t0001 g0200 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18945 hp1 a0001 c0001 t0001 g0244 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18945 hp2 a0012 c0025 t0001 g0106 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18946 hp1 a0003 c0003 t0001 g0015 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18946 hp2 a0001 c0001 t0001 g0008 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18947 hp1 a0002 c0007 t0001 g0180 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18947 hp2 a0003 c0003 t0001 g0130 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18948 hp1 a0001 c0001 t0001 g0059 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18948 hp2 a0002 c0002 t0005 g0278 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18949 hp1 a0001 c0006 t0002 g0208 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18949 hp2 a0004 c0009 t0001 g0022 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18951 hp1 a0002 c0002 t0002 g0002 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18951 hp2 a0003 c0003 t0001 g0011 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18954 hp1 a0011 c0016 t0002 g0017 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18954 hp2 a0002 c0007 t0001 g0179 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18956 hp1 a0001 c0001 t0001 g0064 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18956 hp2 a0009 c0012 t0001 g0004 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18957 hp1 a0002 c0018 t0001 g0172 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18957 hp2 a0001 c0014 t0001 g0109 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18959 hp1 a0014 c0022 t0001 g0214 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18959 hp2 a0001 c0001 t0001 g0067 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18960 hp1 a0002 c0002 t0002 g0175 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18960 hp2 a0001 c0001 t0001 g0045 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18961 hp1 a0002 c0002 t0002 g0002 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18961 hp2 a0001 c0001 t0001 g0060 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18964 hp1 a0002 c0002 t0002 g0018 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18964 hp2 a0001 c0001 t0001 g0001 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18965 hp1 a0001 c0001 t0001 g0012 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18965 hp2 a0008 c0013 t0001 g0213 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18966 hp1 a0005 c0005 t0001 g0020 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18966 hp2 a0008 c0013 t0001 g0232 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18967 hp1 a0001 c0001 t0001 g0036 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18967 hp2 a0005 c0015 t0003 g0197 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18968 hp1 a0005 c0005 t0001 g0202 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18968 hp2 a0001 c0014 t0001 g0134 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18971 hp1 a0004 c0009 t0001 g0022 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18971 hp2 a0001 c0001 t0001 g0007 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18972 hp1 a0001 c0014 t0001 g0090 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18972 hp2 a0002 c0002 t0002 g0002 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18974 hp1 a0018 c0055 t0001 g0195 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18974 hp2 a0005 c0005 t0001 g0201 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18978 hp1 a0001 c0001 t0001 g0040 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18978 hp2 a0020 c0054 t0001 g0105 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18979 hp1 a0009 c0012 t0001 g0004 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18979 hp2 a0003 c0003 t0001 g0013 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18980 hp1 a0006 c0019 t0001 g0185 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18980 hp2 a0001 c0060 t0001 g0142 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18985 hp1 a0003 c0003 t0001 g0115 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18985 hp2 a0002 c0002 t0002 g0187 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18989 hp1 a0008 c0013 t0001 g0231 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18989 hp2 a0001 c0001 t0001 g0083 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18991 hp1 a0001 c0006 t0003 g0041 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18991 hp2 a0011 c0016 t0002 g0170 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18992 hp1 a0002 c0002 t0002 g0018 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18992 hp2 a0005 c0005 t0001 g0204 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18994 hp1 a0003 c0003 t0001 g0131 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18994 hp2 a0004 c0009 t0001 g0246 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18995 hp1 a0002 c0002 t0002 g0182 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18995 hp2 a0001 c0001 t0001 g0166 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18997 hp1 a0002 c0018 t0001 g0186 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18997 hp2 a0009 c0012 t0001 g0288 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18998 hp1 a0001 c0001 t0001 g0091 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18998 hp2 a0001 c0001 t0001 g0119 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18999 hp1 a0002 c0007 t0001 g0276 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18999 hp2 a0003 c0003 t0001 g0158 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19000 hp1 a0002 c0002 t0002 g0174 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19000 hp2 a0008 c0013 t0001 g0229 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19002 hp1 a0001 c0001 t0001 g0086 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19002 hp2 a0008 c0013 t0001 g0212 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19003 hp1 a0001 c0001 t0001 g0066 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19003 hp2 a0005 c0005 t0001 g0020 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19004 hp1 a0001 c0001 t0001 g0080 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19004 hp2 a0005 c0015 t0003 g0198 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19009 hp1 a0005 c0005 t0001 g0005 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19009 hp2 a0011 c0016 t0002 g0017 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19010 hp1 a0001 c0001 t0001 g0129 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19010 hp2 a0001 c0001 t0001 g0113 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19011 hp1 a0001 c0006 t0001 g0074 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19011 hp2 a0001 c0052 t0001 g0033 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19012 hp1 a0002 c0018 t0001 g0167 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19012 hp2 a0003 c0003 t0002 g0079 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19030 hp1 a0006 c0019 t0001 g0300 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19030 hp2 a0002 c0023 t0004 g0030 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19043 hp1 a0002 c0007 t0001 g0259 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19043 hp2 a0030 c0037 t0002 g0284 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19056 hp1 a0003 c0003 t0001 g0013 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19056 hp2 a0002 c0002 t0005 g0275 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19057 hp1 a0003 c0003 t0001 g0015 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19057 hp2 a0009 c0012 t0001 g0147 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19060 hp1 a0001 c0001 t0001 g0007 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19060 hp2 a0002 c0002 t0002 g0171 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19063 hp1 a0001 c0001 t0001 g0078 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19063 hp2 a0005 c0005 t0001 g0005 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19064 hp1 a0005 c0005 t0001 g0194 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19064 hp2 a0001 c0001 t0001 g0144 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19065 hp1 a0002 c0002 t0002 g0169 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19065 hp2 a0001 c0001 t0001 g0103 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19066 hp1 a0003 c0003 t0001 g0011 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19066 hp2 a0002 c0002 t0002 g0168 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19076 hp1 a0002 c0002 t0002 g0035 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19076 hp2 a0001 c0001 t0001 g0052 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19077 hp1 a0002 c0002 t0002 g0173 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19077 hp2 a0001 c0001 t0001 g0163 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19079 hp1 a0012 c0025 t0001 g0107 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19079 hp2 a0002 c0002 t0002 g0165 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19082 hp1 a0002 c0002 t0002 g0002 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19082 hp2 a0001 c0014 t0001 g0065 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19085 hp1 a0009 c0012 t0001 g0032 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19085 hp2 a0001 c0001 t0001 g0046 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19087 hp1 a0001 c0014 t0001 g0136 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19087 hp2 a0002 c0002 t0002 g0176 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19088 hp1 a0008 c0017 t0001 g0245 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19088 hp2 a0001 c0001 t0001 g0039 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19091 hp1 a0004 c0004 t0003 g0239 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19091 hp2 a0009 c0012 t0001 g0004 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19240 hp1 a0007 c0034 t0001 g0264 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA19240 hp2 a0026 c0041 t0001 g0301 AFR YRI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20752 hp1 a0003 c0003 t0001 g0076 EUR TSI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20752 hp2 a0005 c0005 t0001 g0021 EUR TSI COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20905 hp1 a0001 c0001 t0001 g0068 SAS GIH COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20905 hp2 a0002 c0002 t0003 g0274 SAS GIH COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02109 hp1 a0006 c0008 t0009 g0298 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02109 hp2 a0013 c0027 t0003 g0250 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02559 hp1 a0007 c0011 t0001 g0192 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG02559 hp2 a0001 c0006 t0004 g0095 AFR ACB COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03471 hp1 a0008 c0017 t0001 g0223 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG03471 hp2 a0025 c0040 t0002 g0287 AFR MSL COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG06807 hp1 a0002 c0002 t0002 g0299 AFR USA COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
HG06807 hp2 a0001 c0001 t0001 g0009 AFR USA COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18955 hp1 a0001 c0001 t0001 g0089 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA18955 hp2 a0002 c0002 t0002 g0184 EAS JPT COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20300 hp1 a0004 c0004 t0003 g0224 AFR USA COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA20300 hp2 a0001 c0001 t0001 g0062 AFR USA COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA21309 hp1 a0001 c0006 t0003 g0044 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
NA21309 hp2 a0027 c0043 t0002 g0273 AFR LWK COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0001 REF REF COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880
homoSapiens_grch38 hp1 a0002 c0010 t0001 g0268 REF REF COL17A1_chr10_104026286_104090880 COL17A1 chr10 104026286 104090880

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
chr10:104033992 T
T
C
C
13 a0003
a0006
a0007
others(10): Show 
a0003
a0006
a0007
a0008
a0010
a0012
a0013
a0014
a0019
a0025
a0028
a0029
a0030
89 HG00280.hp1
HG00621.hp2
HG00738.hp2
others(86): Show 
HG00280.hp1
HG00621.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp2
HG01167.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp1
NA18989.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19088.hp1
NA19240.hp1
NA20752.hp1
missense_variant MODERATE c.4109A>G
c.4109A>G
p.Asp1370Gly
p.Asp1370Gly
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/56 4278/5612 4109/4494 1370/1497 chr10 104033992
chr10:104034073 G
G
A
A
1 a0013
a0013
2 HG02109.hp2
HG03195.hp2
HG02109.hp2
HG03195.hp2
missense_variant MODERATE c.4028C>T
c.4028C>T
p.Pro1343Leu
p.Pro1343Leu
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/56 4197/5612 4028/4494 1343/1497 chr10 104034073
chr10:104034137 C
C
T
T
1 a0029
a0029
1 HG00738.hp2
HG00738.hp2
missense_variant MODERATE c.3964G>A
c.3964G>A
p.Gly1322Ser
p.Gly1322Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/56 4133/5612 3964/4494 1322/1497 chr10 104034137
chr10:104034286 G
G
A
A
1 a0019
a0019
1 HG02056.hp1
HG02056.hp1
missense_variant MODERATE c.3815C>T
c.3815C>T
p.Pro1272Leu
p.Pro1272Leu
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/56 3984/5612 3815/4494 1272/1497 chr10 104034286
chr10:104035518 C
C
T
T
1 a0027
a0027
1 NA21309.hp2
NA21309.hp2
missense_variant MODERATE c.3464G>A
c.3464G>A
p.Gly1155Asp
p.Gly1155Asp
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 49/56 3633/5612 3464/4494 1155/1497 chr10 104035518
chr10:104037759 A
A
C
C
1 a0018
a0018
1 NA18974.hp1
NA18974.hp1
missense_variant MODERATE c.3085T>G
c.3085T>G
p.Ser1029Ala
p.Ser1029Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/56 3254/5612 3085/4494 1029/1497 chr10 104037759
chr10:104040357 C
C
T
T
2 a0012
a0020
a0012
a0020
3 NA18945.hp2
NA18978.hp2
NA19079.hp1
NA18945.hp2
NA18978.hp2
NA19079.hp1
missense_variant MODERATE c.2755G>A
c.2755G>A
p.Asp919Asn
p.Asp919Asn
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 40/56 2924/5612 2755/4494 919/1497 chr10 104040357
chr10:104040408 T
T
A
A
1 a0014
a0014
2 HG02056.hp2
NA18959.hp1
HG02056.hp2
NA18959.hp1
missense_variant&splice_region_variant MODERATE c.2704A>T
c.2704A>T
p.Thr902Ser
p.Thr902Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 40/56 2873/5612 2704/4494 902/1497 chr10 104040408
chr10:104041327 G
G
A
A
1 a0030
a0030
1 NA19043.hp2
NA19043.hp2
missense_variant MODERATE c.2623C>T
c.2623C>T
p.Pro875Ser
p.Pro875Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 38/56 2792/5612 2623/4494 875/1497 chr10 104041327
chr10:104043511 TGGAGGTC
others(20): Show 
TGGAGGTCCTGGGGGTCCCATGGCTCCA
T
T
1 a0021
a0021
1 HG02602.hp1
HG02602.hp1
disruptive_inframe_deletion MODERATE c.2478_2504delTGGAGC
others(21): Show 
c.2478_2504delTGGAGCCATGGGACCCCCAGGACCTCC
p.Gly827_Pro835del
p.Gly827_Pro835del
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/56 2673/5612 2478/4494 826/1497 chr10 104043511
chr10:104046748 C
C
G
G
1 a0026
a0026
1 NA19240.hp2
NA19240.hp2
missense_variant MODERATE c.2361G>C
c.2361G>C
p.Gln787His
p.Gln787His
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/56 2530/5612 2361/4494 787/1497 chr10 104046748
chr10:104050642 T
T
C
C
17 a0001
a0003
a0005
others(14): Show 
a0001
a0003
a0005
a0007
a0009
a0012
a0016
a0018
a0019
a0020
a0021
a0022
a0023
a0024
a0025
a0028
a0030
202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
missense_variant MODERATE c.2107A>G
c.2107A>G
p.Met703Val
p.Met703Val
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 27/56 2276/5612 2107/4494 703/1497 chr10 104050642
chr10:104055851 G
G
T
T
1 a0023
a0023
1 HG02257.hp1
HG02257.hp1
missense_variant MODERATE c.1618C>A
c.1618C>A
p.Leu540Met
p.Leu540Met
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/56 1787/5612 1618/4494 540/1497 chr10 104055851
chr10:104055888 C
C
T
T
1 a0016
a0016
1 HG02258.hp2
HG02258.hp2
missense_variant MODERATE c.1581G>A
c.1581G>A
p.Met527Ile
p.Met527Ile
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/56 1750/5612 1581/4494 527/1497 chr10 104055888
chr10:104057104 C
C
T
T
1 a0022
a0022
1 HG01496.hp1
HG01496.hp1
missense_variant MODERATE c.1336G>A
c.1336G>A
p.Gly446Ser
p.Gly446Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/56 1505/5612 1336/4494 446/1497 chr10 104057104
chr10:104057110 CGCCACCA
others(20): Show 
CGCCACCAACACCGCCACCTCCTCCACT
C
C
1 a0010
a0010
4 HG01884.hp1
HG02896.hp1
HG03041.hp1
others(1): Show 
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
conservative_inframe_deletion MODERATE c.1303_1329delAGTGGA
others(21): Show 
c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC
p.Ser435_Gly443del
p.Ser435_Gly443del
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/56 1498/5612 1303/4494 435/1497 chr10 104057110
chr10:104057133 C
C
T
T
2 a0024
a0025
a0024
a0025
2 HG03195.hp1
HG03471.hp2
HG03195.hp1
HG03471.hp2
missense_variant MODERATE c.1307G>A
c.1307G>A
p.Gly436Glu
p.Gly436Glu
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/56 1476/5612 1307/4494 436/1497 chr10 104057133
chr10:104057158 C
C
T
T
20 a0001
a0003
a0004
others(17): Show 
a0001
a0003
a0004
a0005
a0007
a0008
a0009
a0012
a0014
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0023
a0029
a0030
245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
missense_variant MODERATE c.1282G>A
c.1282G>A
p.Gly428Ser
p.Gly428Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/56 1451/5612 1282/4494 428/1497 chr10 104057158
chr10:104060122 C
C
T
T
1 a0023
a0023
1 HG02257.hp1
HG02257.hp1
missense_variant MODERATE c.1138G>A
c.1138G>A
p.Ala380Thr
p.Ala380Thr
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/56 1307/5612 1138/4494 380/1497 chr10 104060122
chr10:104064575 G
G
A
A
12 a0001
a0003
a0009
others(9): Show 
a0001
a0003
a0009
a0012
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0023
165 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
missense_variant MODERATE c.629C>T
c.629C>T
p.Thr210Met
p.Thr210Met
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/56 798/5612 629/4494 210/1497 chr10 104064575
chr10:104070467 C
C
G
G
1 a0015
a0015
1 HG03710.hp2
HG03710.hp2
missense_variant MODERATE c.566G>C
c.566G>C
p.Gly189Ala
p.Gly189Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/56 735/5612 566/4494 189/1497 chr10 104070467
chr10:104073230 C
C
G
G
1 a0011
a0011
3 NA18954.hp1
NA18991.hp2
NA19009.hp2
NA18954.hp1
NA18991.hp2
NA19009.hp2
missense_variant MODERATE c.395G>C
c.395G>C
p.Arg132Thr
p.Arg132Thr
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/56 564/5612 395/4494 132/1497 chr10 104073230
chr10:104080664 T
T
C
C
1 a0009
a0009
8 HG02040.hp1
HG02257.hp2
NA18956.hp2
others(5): Show 
HG02040.hp1
HG02257.hp2
NA18956.hp2
NA18979.hp1
NA18997.hp2
NA19057.hp2
NA19085.hp1
NA19091.hp2
missense_variant MODERATE c.10A>G
c.10A>G
p.Thr4Ala
p.Thr4Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/56 179/5612 10/4494 4/1497 chr10 104080664

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
chr10:104034658 G
G
A
A
1 a0001c0057
a0001c0057
1 HG02738.hp1
HG02738.hp1
synonymous_variant LOW c.3729C>T
c.3729C>T
p.Ser1243Ser
p.Ser1243Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/56 3898/5612 3729/4494 1243/1497 chr10 104034658
chr10:104035282 G
G
A
A
2 a0006c0042
a0007c0034
a0006c0042
a0007c0034
2 HG02145.hp2
NA19240.hp1
HG02145.hp2
NA19240.hp1
synonymous_variant LOW c.3600C>T
c.3600C>T
p.Asp1200Asp
p.Asp1200Asp
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/56 3769/5612 3600/4494 1200/1497 chr10 104035282
chr10:104037061 A
A
G
G
59 a0001c0001
a0001c0006
a0001c0014
others(56): Show 
a0001c0001
a0001c0006
a0001c0014
a0001c0024
a0001c0026
a0001c0049
a0001c0050
a0001c0052
a0001c0053
a0001c0057
a0001c0060
a0002c0002
a0002c0007
a0002c0018
a0002c0023
a0002c0031
a0003c0003
a0003c0020
a0003c0058
a0004c0004
a0004c0009
a0004c0032
a0005c0005
a0005c0015
a0005c0036
a0006c0008
a0006c0019
a0006c0042
a0007c0011
a0007c0034
a0007c0035
a0007c0038
a0008c0013
a0008c0017
a0009c0012
a0010c0021
a0010c0028
a0010c0029
a0011c0016
a0012c0025
a0013c0027
a0013c0044
a0014c0022
a0015c0030
a0016c0059
a0017c0046
a0018c0055
a0019c0056
a0020c0054
a0021c0051
a0022c0048
a0023c0047
a0024c0039
a0025c0040
a0026c0041
a0027c0043
a0028c0045
a0029c0033
a0030c0037
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.3261T>C
c.3261T>C
p.Ile1087Ile
p.Ile1087Ile
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/56 3430/5612 3261/4494 1087/1497 chr10 104037061
chr10:104039114 T
T
C
C
37 a0001c0001
a0001c0024
a0001c0049
others(34): Show 
a0001c0001
a0001c0024
a0001c0049
a0001c0050
a0001c0052
a0001c0053
a0001c0057
a0001c0060
a0002c0007
a0002c0018
a0002c0023
a0002c0031
a0003c0003
a0003c0020
a0003c0058
a0004c0009
a0005c0005
a0006c0019
a0007c0011
a0007c0034
a0007c0038
a0008c0013
a0009c0012
a0010c0028
a0010c0029
a0012c0025
a0013c0027
a0013c0044
a0014c0022
a0016c0059
a0018c0055
a0019c0056
a0020c0054
a0022c0048
a0023c0047
a0026c0041
a0029c0033
211 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.2904A>G
c.2904A>G
p.Pro968Pro
p.Pro968Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 44/56 3073/5612 2904/4494 968/1497 chr10 104039114
chr10:104039458 G
G
T
T
35 a0001c0001
a0001c0014
a0001c0024
others(32): Show 
a0001c0001
a0001c0014
a0001c0024
a0001c0049
a0001c0050
a0001c0052
a0001c0057
a0001c0060
a0002c0007
a0002c0018
a0002c0031
a0003c0003
a0003c0020
a0003c0058
a0004c0009
a0005c0005
a0006c0019
a0007c0011
a0007c0034
a0007c0038
a0008c0013
a0009c0012
a0010c0028
a0012c0025
a0013c0027
a0013c0044
a0014c0022
a0016c0059
a0018c0055
a0019c0056
a0020c0054
a0022c0048
a0023c0047
a0026c0041
a0029c0033
213 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(210): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.2883C>A
c.2883C>A
p.Pro961Pro
p.Pro961Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 43/56 3052/5612 2883/4494 961/1497 chr10 104039458
chr10:104039473 A
A
T
T
2 a0006c0042
a0030c0037
a0006c0042
a0030c0037
2 HG02145.hp2
NA19043.hp2
HG02145.hp2
NA19043.hp2
synonymous_variant LOW c.2868T>A
c.2868T>A
p.Pro956Pro
p.Pro956Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 43/56 3037/5612 2868/4494 956/1497 chr10 104039473
chr10:104040397 G
G
A
A
1 a0005c0036
a0005c0036
1 HG02683.hp1
HG02683.hp1
synonymous_variant LOW c.2715C>T
c.2715C>T
p.Ser905Ser
p.Ser905Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 40/56 2884/5612 2715/4494 905/1497 chr10 104040397
chr10:104041495 G
G
A
A
33 a0001c0001
a0001c0024
a0001c0049
others(30): Show 
a0001c0001
a0001c0024
a0001c0049
a0001c0050
a0001c0057
a0001c0060
a0002c0007
a0002c0023
a0002c0031
a0003c0003
a0003c0020
a0003c0058
a0004c0009
a0005c0005
a0006c0019
a0007c0011
a0007c0038
a0008c0013
a0009c0012
a0010c0028
a0010c0029
a0012c0025
a0013c0027
a0013c0044
a0014c0022
a0016c0059
a0018c0055
a0019c0056
a0020c0054
a0022c0048
a0023c0047
a0026c0041
a0029c0033
205 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(202): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.2595C>T
c.2595C>T
p.Arg865Arg
p.Arg865Arg
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 37/56 2764/5612 2595/4494 865/1497 chr10 104041495
chr10:104049428 G
G
A
A
1 a0003c0058
a0003c0058
1 HG03831.hp2
HG03831.hp2
synonymous_variant LOW c.2208C>T
c.2208C>T
p.Pro736Pro
p.Pro736Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/56 2377/5612 2208/4494 736/1497 chr10 104049428
chr10:104054102 A
A
G
G
1 a0001c0050
a0001c0050
1 HG01071.hp2
HG01071.hp2
synonymous_variant LOW c.1761T>C
c.1761T>C
p.Pro587Pro
p.Pro587Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 21/56 1930/5612 1761/4494 587/1497 chr10 104054102
chr10:104055879 C
C
T
T
1 a0001c0049
a0001c0049
1 HG01255.hp1
HG01255.hp1
synonymous_variant LOW c.1590G>A
c.1590G>A
p.Ala530Ala
p.Ala530Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/56 1759/5612 1590/4494 530/1497 chr10 104055879
chr10:104057105 G
G
A
A
1 a0007c0038
a0007c0038
1 HG03225.hp2
HG03225.hp2
synonymous_variant LOW c.1335C>T
c.1335C>T
p.Gly445Gly
p.Gly445Gly
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/56 1504/5612 1335/4494 445/1497 chr10 104057105
chr10:104060198 G
G
A
A
22 a0001c0001
a0001c0006
a0001c0014
others(19): Show 
a0001c0001
a0001c0006
a0001c0014
a0001c0026
a0001c0049
a0001c0050
a0001c0052
a0001c0053
a0001c0057
a0001c0060
a0003c0003
a0003c0020
a0003c0058
a0009c0012
a0012c0025
a0016c0059
a0018c0055
a0019c0056
a0020c0054
a0021c0051
a0022c0048
a0023c0047
162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.1062C>T
c.1062C>T
p.Ala354Ala
p.Ala354Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/56 1231/5612 1062/4494 354/1497 chr10 104060198
chr10:104060270 T
T
C
C
1 a0016c0059
a0016c0059
1 HG02258.hp2
HG02258.hp2
synonymous_variant LOW c.990A>G
c.990A>G
p.Thr330Thr
p.Thr330Thr
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/56 1159/5612 990/4494 330/1497 chr10 104060270
chr10:104064547 A
A
G
G
1 a0004c0032
a0004c0032
1 HG02004.hp2
HG02004.hp2
synonymous_variant LOW c.657T>C
c.657T>C
p.His219His
p.His219His
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/56 826/5612 657/4494 219/1497 chr10 104064547
chr10:104064574 C
C
T
T
1 a0002c0031
a0002c0031
1 HG02451.hp1
HG02451.hp1
synonymous_variant LOW c.630G>A
c.630G>A
p.Thr210Thr
p.Thr210Thr
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/56 799/5612 630/4494 210/1497 chr10 104064574
chr10:104070427 C
C
G
G
4 a0010c0021
a0010c0028
a0010c0029
others(1): Show 
a0010c0021
a0010c0028
a0010c0029
a0013c0027
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
splice_region_variant&synonymous_variant LOW c.606G>C
c.606G>C
p.Ser202Ser
p.Ser202Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/56 775/5612 606/4494 202/1497 chr10 104070427
chr10:104073241 A
A
G
G
4 a0010c0021
a0010c0028
a0010c0029
others(1): Show 
a0010c0021
a0010c0028
a0010c0029
a0013c0027
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
synonymous_variant LOW c.384T>C
c.384T>C
p.Ser128Ser
p.Ser128Ser
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/56 553/5612 384/4494 128/1497 chr10 104073241
chr10:104076308 C
C
T
T
2 a0001c0026
a0003c0020
a0001c0026
a0003c0020
3 HG01891.hp2
HG02976.hp1
HG03041.hp2
HG01891.hp2
HG02976.hp1
HG03041.hp2
synonymous_variant LOW c.324G>A
c.324G>A
p.Ala108Ala
p.Ala108Ala
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/56 493/5612 324/4494 108/1497 chr10 104076308
chr10:104078546 T
T
C
C
1 a0001c0060
a0001c0060
1 NA18980.hp2
NA18980.hp2
synonymous_variant LOW c.93A>G
c.93A>G
p.Pro31Pro
p.Pro31Pro
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/56 262/5612 93/4494 31/1497 chr10 104078546

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
chr10:104031446 G
G
A
A
1 a0004c0004t0007
a0004c0004t0007
1 HG02818.hp2
HG02818.hp2
3_prime_UTR_variant MODIFIER c.*789C>T
c.*789C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 789 chr10 104031446
chr10:104031597 C
C
T
T
20 a0001c0001t0002
a0001c0006t0002
a0001c0053t0002
others(17): Show 
a0001c0001t0002
a0001c0006t0002
a0001c0053t0002
a0002c0002t0002
a0002c0002t0005
a0002c0002t0008
a0003c0003t0002
a0004c0004t0002
a0004c0004t0007
a0004c0009t0002
a0004c0032t0002
a0005c0015t0002
a0006c0008t0002
a0006c0008t0009
a0006c0042t0002
a0007c0035t0002
a0011c0016t0002
a0025c0040t0002
a0027c0043t0002
a0030c0037t0002
82 HG00544.hp2
HG00558.hp1
HG00639.hp1
others(79): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp1
HG00741.hp2
HG01106.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*638G>A
c.*638G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 638 chr10 104031597
chr10:104031771 A
A
G
G
1 a0001c0001t0010
a0001c0001t0010
1 HG01496.hp2
HG01496.hp2
3_prime_UTR_variant MODIFIER c.*464T>C
c.*464T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 464 chr10 104031771
chr10:104031871 CA
CA
C
C
33 a0001c0001t0002
a0001c0001t0003
a0001c0006t0002
others(30): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0006t0002
a0001c0006t0003
a0001c0053t0002
a0002c0002t0002
a0002c0002t0003
a0002c0002t0008
a0002c0007t0003
a0003c0003t0002
a0004c0004t0002
a0004c0004t0003
a0004c0004t0007
a0004c0009t0002
a0004c0032t0002
a0005c0015t0002
a0005c0015t0003
a0005c0036t0003
a0006c0008t0002
a0006c0008t0003
a0006c0008t0009
a0006c0042t0002
a0007c0035t0002
a0011c0016t0002
a0013c0027t0003
a0013c0044t0003
a0015c0030t0003
a0017c0046t0003
a0021c0051t0003
a0024c0039t0003
a0025c0040t0002
a0027c0043t0002
a0030c0037t0002
100 HG00558.hp1
HG00639.hp1
HG00738.hp1
others(97): Show 
HG00558.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18967.hp2
NA18972.hp2
NA18985.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA20300.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*363delT
c.*363delT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 363 chr10 104031871
chr10:104032161 C
C
A
A
3 a0001c0024t0006
a0002c0002t0008
a0002c0031t0006
a0001c0024t0006
a0002c0002t0008
a0002c0031t0006
3 HG02280.hp1
HG02451.hp1
HG02965.hp1
HG02280.hp1
HG02451.hp1
HG02965.hp1
3_prime_UTR_variant MODIFIER c.*74G>T
c.*74G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 74 chr10 104032161
chr10:104032171 C
C
G
G
24 a0001c0001t0002
a0001c0006t0002
a0001c0006t0004
others(21): Show 
a0001c0001t0002
a0001c0006t0002
a0001c0006t0004
a0001c0026t0004
a0001c0053t0002
a0002c0002t0002
a0002c0002t0004
a0002c0002t0005
a0002c0002t0008
a0002c0023t0004
a0003c0003t0002
a0004c0004t0002
a0004c0004t0007
a0004c0009t0002
a0004c0032t0002
a0005c0015t0002
a0006c0008t0002
a0006c0042t0002
a0007c0035t0002
a0010c0029t0004
a0011c0016t0002
a0025c0040t0002
a0027c0043t0002
a0030c0037t0002
90 HG00544.hp2
HG00558.hp1
HG00639.hp1
others(87): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*64G>C
c.*64G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 56/56 64 chr10 104032171

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
chr10:104032319 A
A
G
G
101 a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
others(98): Show 
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0003g0177
a0002c0023t0004g0030
a0003c0003t0002g0079
a0003c0003t0002g0112
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0233
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0042t0002g0294
a0007c0035t0002g0285
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0015c0030t0003g0237
a0017c0046t0003g0116
a0021c0051t0003g0069
a0024c0039t0003g0255
a0025c0040t0002g0287
a0027c0043t0002g0273
a0030c0037t0002g0284
111 HG00544.hp2
HG00558.hp1
HG00639.hp1
others(108): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18967.hp2
NA18972.hp2
NA18985.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA20300.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.4439-29T>C
c.4439-29T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 55/55 chr10 104032319
chr10:104032447 A
A
C
C
230 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(227): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0115
a0003c0003t0002g0079
a0003c0003t0002g0112
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0185
a0006c0042t0002g0294
a0007c0035t0002g0285
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0030c0037t0002g0284
257 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4439-157T>G
c.4439-157T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 55/55 chr10 104032447
chr10:104032522 T
T
C
C
1 a0001c0001t0001g0132
a0001c0001t0001g0132
1 HG00621.hp1
HG00621.hp1
intron_variant MODIFIER c.4438+152A>G
c.4438+152A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 55/55 chr10 104032522
chr10:104032771 G
G
A
A
9 a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
others(6): Show 
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0023t0004g0030
a0010c0029t0004g0253
9 HG01109.hp1
HG02559.hp2
HG02622.hp2
others(6): Show 
HG01109.hp1
HG02559.hp2
HG02622.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
NA19030.hp2
intron_variant MODIFIER c.4358-17C>T
c.4358-17C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 54/55 chr10 104032771
chr10:104032781 A
A
G
G
32 a0001c0001t0002g0057
a0001c0006t0002g0070
a0001c0006t0002g0071
others(29): Show 
a0001c0001t0002g0057
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0102
a0001c0006t0002g0208
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0003c0003t0002g0079
a0004c0004t0002g0248
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
37 HG00544.hp2
HG00558.hp1
HG01433.hp2
others(34): Show 
HG00544.hp2
HG00558.hp1
HG01433.hp2
HG02071.hp1
HG02071.hp2
HG02155.hp2
HG03017.hp2
HG03491.hp1
HG03704.hp2
NA18747.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp2
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.4358-27T>C
c.4358-27T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 54/55 chr10 104032781
chr10:104032807 G
G
A
A
8 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(5): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0016c0059t0001g0114
8 HG02258.hp2
HG02723.hp1
HG02896.hp2
others(5): Show 
HG02258.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.4358-53C>T
c.4358-53C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 54/55 chr10 104032807
chr10:104032854 C
C
T
T
1 a0002c0010t0001g0267
a0002c0010t0001g0267
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.4357+52G>A
c.4357+52G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 54/55 chr10 104032854
chr10:104033001 C
C
T
T
4 a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0014t0001g0134
others(1): Show 
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0014t0001g0134
a0001c0014t0001g0136
4 NA18959.hp2
NA18968.hp2
NA19003.hp1
others(1): Show 
NA18959.hp2
NA18968.hp2
NA19003.hp1
NA19087.hp1
intron_variant MODIFIER c.4295-33G>A
c.4295-33G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 53/55 chr10 104033001
chr10:104033019 T
T
G
G
2 a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0223
a0008c0017t0001g0227
2 HG02922.hp2
HG03471.hp1
HG02922.hp2
HG03471.hp1
intron_variant MODIFIER c.4295-51A>C
c.4295-51A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 53/55 chr10 104033019
chr10:104033414 C
C
T
T
1 a0002c0023t0004g0030
a0002c0023t0004g0030
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.4157-39G>A
c.4157-39G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033414
chr10:104033415 T
T
G
G
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4157-40A>C
c.4157-40A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033415
chr10:104033477 A
A
T
T
2 a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0001g0247
a0004c0004t0001g0249
2 HG00609.hp1
HG02015.hp1
HG00609.hp1
HG02015.hp1
intron_variant MODIFIER c.4157-102T>A
c.4157-102T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033477
chr10:104033560 G
G
T
T
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.4157-185C>A
c.4157-185C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033560
chr10:104033566 C
C
T
T
1 a0001c0001t0001g0103
a0001c0001t0001g0103
1 NA19065.hp2
NA19065.hp2
intron_variant MODIFIER c.4157-191G>A
c.4157-191G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033566
chr10:104033608 T
T
C
C
16 a0003c0003t0001g0084
a0006c0019t0001g0300
a0007c0011t0001g0019
others(13): Show 
a0003c0003t0001g0084
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0034t0001g0264
a0007c0038t0001g0188
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
17 HG01884.hp1
HG01891.hp1
HG02109.hp2
others(14): Show 
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19240.hp1
intron_variant MODIFIER c.4157-233A>G
c.4157-233A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033608
chr10:104033611 G
G
A
A
179 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(176): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0200
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
200 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(197): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4157-236C>T
c.4157-236C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033611
chr10:104033645 C
C
T
T
50 a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
others(47): Show 
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0234
a0006c0019t0001g0178
a0007c0011t0001g0200
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0019c0056t0001g0063
a0029c0033t0001g0242
55 HG00280.hp1
HG00621.hp2
HG00738.hp2
others(52): Show 
HG00280.hp1
HG00621.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp2
HG01167.hp1
HG01192.hp2
HG01346.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02056.hp1
HG02056.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG02738.hp2
HG02922.hp2
HG02976.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18979.hp2
NA18989.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19056.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19088.hp1
NA20752.hp1
intron_variant MODIFIER c.4157-270G>A
c.4157-270G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033645
chr10:104033646 G
G
A
A
1 a0004c0004t0003g0228
a0004c0004t0003g0228
1 HG04204.hp1
HG04204.hp1
intron_variant MODIFIER c.4157-271C>T
c.4157-271C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033646
chr10:104033701 C
C
T
T
193 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(190): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
214 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(211): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4156+244G>A
c.4156+244G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033701
chr10:104033829 C
C
A
A
49 a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
others(46): Show 
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0234
a0006c0019t0001g0178
a0007c0011t0001g0200
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0019c0056t0001g0063
54 HG00280.hp1
HG00621.hp2
HG00741.hp1
others(51): Show 
HG00280.hp1
HG00621.hp2
HG00741.hp1
HG01081.hp2
HG01167.hp1
HG01192.hp2
HG01346.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02056.hp1
HG02056.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG02738.hp2
HG02922.hp2
HG02976.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18979.hp2
NA18989.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19056.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19088.hp1
NA20752.hp1
intron_variant MODIFIER c.4156+116G>T
c.4156+116G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033829
chr10:104033922 A
A
T
T
1 a0001c0001t0001g0080
a0001c0001t0001g0080
1 NA19004.hp1
NA19004.hp1
intron_variant MODIFIER c.4156+23T>A
c.4156+23T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033922
chr10:104033944 C
C
G
G
1 a0006c0008t0002g0281
a0006c0008t0002g0281
1 HG02895.hp1
HG02895.hp1
splice_donor_variant&intron_variant HIGH c.4156+1G>C
c.4156+1G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 52/55 chr10 104033944
chr10:104034388 ACTTGGGA
others(6): Show 
ACTTGGGAGTTAGG
A
A
1 a0002c0002t0004g0263
a0002c0002t0004g0263
1 HG02976.hp2
HG02976.hp2
intron_variant MODIFIER c.3767-67_3767-55del
others(13): Show 
c.3767-67_3767-55delCCTAACTCCCAAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034388
chr10:104034389 CTT
CTT
C
C
4 a0006c0008t0003g0027
a0006c0019t0001g0300
a0013c0027t0003g0250
others(1): Show 
a0006c0008t0003g0027
a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
4 HG01243.hp2
HG02109.hp2
HG03195.hp2
others(1): Show 
HG01243.hp2
HG02109.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.3767-57_3767-56del
others(2): Show 
c.3767-57_3767-56delAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034389
chr10:104034392 G
G
T
T
1 a0001c0001t0001g0034
a0001c0001t0001g0034
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.3767-58C>A
c.3767-58C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034392
chr10:104034508 A
A
C
C
3 a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
3 HG02109.hp2
HG03195.hp2
NA19030.hp1
HG02109.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.3766+113T>G
c.3766+113T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034508
chr10:104034509 C
C
T
T
3 a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
3 HG02109.hp2
HG03195.hp2
NA19030.hp1
HG02109.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.3766+112G>A
c.3766+112G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034509
chr10:104034607 G
G
T
T
1 a0004c0004t0001g0249
a0004c0004t0001g0249
1 HG00609.hp1
HG00609.hp1
intron_variant MODIFIER c.3766+14C>A
c.3766+14C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 51/55 chr10 104034607
chr10:104034790 A
A
G
G
1 a0004c0004t0002g0230
a0004c0004t0002g0230
1 HG02273.hp2
HG02273.hp2
intron_variant MODIFIER c.3620-23T>C
c.3620-23T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104034790
chr10:104034862 AG
AG
A
A
3 a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
3 HG02109.hp2
HG03195.hp2
NA19030.hp1
HG02109.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.3620-96delC
c.3620-96delC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104034862
chr10:104034886 C
C
T
T
1 a0002c0007t0001g0181
a0002c0007t0001g0181
1 HG00423.hp2
HG00423.hp2
intron_variant MODIFIER c.3620-119G>A
c.3620-119G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104034886
chr10:104035030 C
C
G
G
39 a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
others(36): Show 
a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0092
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0003c0020t0001g0043
a0004c0004t0002g0248
a0005c0015t0002g0256
a0005c0015t0002g0257
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
a0028c0045t0001g0029
44 HG00544.hp2
HG00558.hp1
HG01175.hp2
others(41): Show 
HG00544.hp2
HG00558.hp1
HG01175.hp2
HG01433.hp2
HG01884.hp2
HG02071.hp1
HG02071.hp2
HG02155.hp2
HG02572.hp1
HG02647.hp1
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03491.hp1
HG03704.hp2
NA18522.hp1
NA18747.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.3619+233G>C
c.3619+233G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104035030
chr10:104035048 C
C
A
A
2 a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0003g0238
a0004c0004t0003g0239
2 HG02083.hp2
NA19091.hp1
HG02083.hp2
NA19091.hp1
intron_variant MODIFIER c.3619+215G>T
c.3619+215G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104035048
chr10:104035060 C
C
T
T
1 a0001c0006t0003g0044
a0001c0006t0003g0044
1 NA21309.hp1
NA21309.hp1
intron_variant MODIFIER c.3619+203G>A
c.3619+203G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104035060
chr10:104035097 C
C
T
T
1 a0001c0001t0001g0009
a0001c0001t0001g0009
2 HG03017.hp1
HG06807.hp2
HG03017.hp1
HG06807.hp2
intron_variant MODIFIER c.3619+166G>A
c.3619+166G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 50/55 chr10 104035097
chr10:104035454 T
T
C
C
1 a0005c0005t0001g0205
a0005c0005t0001g0205
1 HG01106.hp2
HG01106.hp2
intron_variant MODIFIER c.3508+20A>G
c.3508+20A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 49/55 chr10 104035454
chr10:104035643 G
G
A
A
8 a0001c0006t0002g0123
a0003c0003t0001g0076
a0004c0004t0002g0023
others(5): Show 
a0001c0006t0002g0123
a0003c0003t0001g0076
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0007g0218
9 HG00741.hp2
HG01192.hp1
HG01255.hp2
others(6): Show 
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG02055.hp2
HG02809.hp2
HG02818.hp2
NA20752.hp1
intron_variant MODIFIER c.3419-80C>T
c.3419-80C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035643
chr10:104035778 C
C
G
G
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.3419-215G>C
c.3419-215G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035778
chr10:104035780 G
G
C
C
188 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(185): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0003g0274
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0010t0001g0267
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0003g0024
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0198
a0006c0008t0002g0281
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
211 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3419-217C>G
c.3419-217C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035780
chr10:104035782 G
G
C
C
1 a0001c0001t0001g0129
a0001c0001t0001g0129
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.3419-219C>G
c.3419-219C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035782
chr10:104035821 T
T
TGTGTGTA
others(29): Show 
TGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGA
4 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
others(1): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
4 HG02145.hp2
HG02922.hp1
NA18906.hp2
others(1): Show 
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3419-259_3419-258i
others(38): Show 
c.3419-259_3419-258insTCCCATACGCACACTCCGATACACTCCC
ATACACAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035821
chr10:104035842 C
C
G
G
4 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
others(1): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
4 HG02145.hp2
HG02922.hp1
NA18906.hp2
others(1): Show 
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3419-279G>C
c.3419-279G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035842
chr10:104035851 C
C
CGTATGGG
others(7): Show 
CGTATGGGAGTGTGT
38 a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
others(35): Show 
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0005c0015t0002g0256
a0005c0015t0002g0257
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
46 HG00544.hp2
HG00639.hp1
HG01358.hp2
others(43): Show 
HG00544.hp2
HG00639.hp1
HG01358.hp2
HG01433.hp2
HG01884.hp2
HG02071.hp1
HG02155.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03225.hp1
HG03491.hp1
HG03540.hp1
HG03704.hp2
NA18522.hp1
NA18747.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
intron_variant MODIFIER c.3419-289_3419-288i
others(16): Show 
c.3419-289_3419-288insACACACTCCCATAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035851
chr10:104035851 C
C
CGTATGGG
others(31): Show 
CGTATGGGAGTGTGTGTATGGGAGTGTATGGGAGTGTGT
57 a0001c0001t0001g0064
a0001c0006t0002g0075
a0001c0006t0002g0092
others(54): Show 
a0001c0001t0001g0064
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0123
a0001c0006t0003g0041
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0008g0209
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0032t0002g0226
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0003g0027
a0006c0008t0009g0298
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0010c0021t0001g0251
a0010c0021t0001g0252
a0015c0030t0003g0237
a0017c0046t0003g0116
a0021c0051t0003g0069
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
58 HG00609.hp1
HG00738.hp1
HG00741.hp2
others(55): Show 
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02109.hp1
HG02273.hp1
HG02273.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03710.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18956.hp1
NA18967.hp2
NA18991.hp1
NA19004.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.3419-289_3419-288i
others(40): Show 
c.3419-289_3419-288insACACACTCCCATACACTCCCATACACAC
ACTCCCATAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035851
chr10:104035851 C
C
CGTATGGG
others(31): Show 
CGTATGGGAGTGTGTGTGTGGGAGTGTATGGGAGTGTGT
195 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(192): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0003g0274
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0003g0024
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
219 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3419-289_3419-288i
others(40): Show 
c.3419-289_3419-288insACACACTCCCATACACTCCCACACACAC
ACTCCCATAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035851
chr10:104035851 C
C
T
T
4 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
others(1): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
4 HG02145.hp2
HG02922.hp1
NA18906.hp2
others(1): Show 
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3419-288G>A
c.3419-288G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035851
chr10:104035887 A
A
AGTGT
AGTGT
194 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(191): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0003g0274
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
217 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(214): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3419-328_3419-325d
others(6): Show 
c.3419-328_3419-325dupACAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035887
chr10:104035889 T
T
C
C
1 a0004c0004t0003g0224
a0004c0004t0003g0224
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.3419-326A>G
c.3419-326A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035889
chr10:104035911 A
A
AGT
AGT
210 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(207): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0008t0002g0258
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
233 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3419-350_3419-349d
others(4): Show 
c.3419-350_3419-349dupAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035911
chr10:104035921 A
A
AGT
AGT
4 a0001c0006t0001g0074
a0001c0006t0002g0102
a0002c0002t0002g0184
others(1): Show 
a0001c0006t0001g0074
a0001c0006t0002g0102
a0002c0002t0002g0184
a0002c0002t0002g0187
4 HG02071.hp1
NA18955.hp2
NA18985.hp2
others(1): Show 
HG02071.hp1
NA18955.hp2
NA18985.hp2
NA19011.hp1
intron_variant MODIFIER c.3419-360_3419-359d
others(4): Show 
c.3419-360_3419-359dupAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035921
chr10:104035969 AGT
AGT
A
A
5 a0001c0006t0002g0092
a0006c0008t0002g0258
a0006c0042t0002g0294
others(2): Show 
a0001c0006t0002g0092
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
5 HG02145.hp2
HG02922.hp1
HG03098.hp2
others(2): Show 
HG02145.hp2
HG02922.hp1
HG03098.hp2
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3419-408_3419-407d
others(4): Show 
c.3419-408_3419-407delAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104035969
chr10:104036063 A
A
AGTGTGTG
others(494): Show 
AGTGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTG
TGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATG
GGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAGTGTG
TGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAG
TGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTA
TGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATG
GGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGT
GTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGT
GTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT
GAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGA
GT
3 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
3 HG02145.hp2
HG02922.hp1
NA18906.hp2
HG02145.hp2
HG02922.hp1
NA18906.hp2
intron_variant MODIFIER c.3418+428_3418+429i
others(503): Show 
c.3418+428_3418+429insACTCACTCCCATACACACACACCCATAC
TCACACTCCCATACACACACACTCACTCCCATACACACACACCCATACTC
ACACTCCCATACTCACTCCCATACACACACCCATACTCACACTCCCATAC
ACACACACCCATACACTCCCATACACACTCCCATACACAACCCATACTCA
CACTCACTCCCATACACACACACCCATACACTCCCATACACACACTCACT
CCCATACACCCATACACACATCCATACTCACACTCCCATACACACACTCC
CATACACACACACCCATACTCACACTCATACACACACTCCCATACACACA
CATACCCATACACTCCCATACACACACACTCTCCCATACACACCCATACT
CACACTCCCATACTCACACACACCCATACGCACACTCCCACTCACACTCA
CTCCCATACACTCCCATAGACACACACACTCCCATACACACACATATACA
CACACTCCCATACACACACACAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036063
chr10:104036066 A
A
G
G
4 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
others(1): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
4 HG02145.hp2
HG02922.hp1
NA18906.hp2
others(1): Show 
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3418+426T>C
c.3418+426T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036066
chr10:104036069 T
T
TGTGTGTA
others(398): Show 
TGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTGTGTGTC
TATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATGGGTGTG
TGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAGTGTGTGTGTA
TGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG
GAGTGA
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.3418+422_3418+423i
others(407): Show 
c.3418+422_3418+423insTCACTCCCATACACACACCCATACTCAC
ACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAA
CCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACA
CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA
CACACACTCCCATACACACACACCCATACTCACACTCATACACACACTCC
CATACACACACATACCCATACACTCCCATACACACACACTCTCCCATACA
CACCCATACTCACACTCCCATACTCACACACACCCATACGCACACTCCCA
CTCACACTCACTCCCATACACTCCCATAGACACACACACTCCCATACACA
CACATATACACACACTCCCATACACAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036069
chr10:104036081 T
T
TGA
TGA
4 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
others(1): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
4 HG02145.hp2
HG02922.hp1
NA18906.hp2
others(1): Show 
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.3418+410_3418+411i
others(4): Show 
c.3418+410_3418+411insTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036081
chr10:104036081 T
T
TGTGTGTA
others(435): Show 
TGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTGTGTGTC
TATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATGGGTGTG
TGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGAGTGTGTGTGTATG
GGAGTGTATGGGGTGTGTGTATGACTGTGTATGGGTGTGTGTGTATGGGA
GTGTGTGTATGGGAGTGTGAGTATGGATGTGTGTATGGGTGTATGGGAGT
GAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGA
GTATGGGTTGTGTATGGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTA
TGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTATGGGAGTGTGAGTATG
GGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGA
3 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
6 HG00558.hp2
NA18966.hp1
NA18992.hp2
others(3): Show 
HG00558.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.3418+410_3418+411i
others(444): Show 
c.3418+410_3418+411insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCC
ATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCC
ATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACT
CCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCACA
CTCCCATACACACACTCCCATACACACACACCCATACACAGTCATACACA
CACCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATAC
TCACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTC
CCATACACTCCCATAGACACACACACTCCCATACACACACATATACACAC
ACTCCCATACACAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036081
chr10:104036089 A
A
T
T
6 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
others(3): Show 
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
9 HG00558.hp2
HG02145.hp2
HG02922.hp1
others(6): Show 
HG00558.hp2
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.3418+403T>A
c.3418+403T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036089
chr10:104036089 AGT
AGT
A
A
6 a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0152
others(3): Show 
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0152
a0003c0003t0001g0154
a0005c0015t0002g0256
a0005c0015t0002g0257
7 HG02132.hp2
HG02165.hp2
HG02647.hp1
others(4): Show 
HG02132.hp2
HG02165.hp2
HG02647.hp1
NA18522.hp1
NA18747.hp1
NA18946.hp1
NA19057.hp1
intron_variant MODIFIER c.3418+401_3418+402d
others(4): Show 
c.3418+401_3418+402delAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036089
chr10:104036094 G
G
GTGTGTAT
others(173): Show 
GTGTGTATGGGAGTGTGTGTATGGGAGTGTGTGTATGAGTGTGTGTGTAT
GGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTTTATGGGAAT
GCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAA
GTGTGTGTATAGGAGTGTGTGTATGGGAGTA
2 a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0008t0003g0027
a0006c0008t0009g0298
2 HG01243.hp2
HG02109.hp1
HG01243.hp2
HG02109.hp1
intron_variant MODIFIER c.3418+397_3418+398i
others(182): Show 
c.3418+397_3418+398insTACTCCCATACACACACTCCTATACACA
CACTTCCATACTCAGACACACCCATACACACTCACATATGCATACACACA
CGCATTCCCATAAACACTCCCATACTCCTGTACTCACACTCCCATACACT
CCCATACACACACACTCATACACACACTCCCATACACACACTCCCATACA
CA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036094
chr10:104036105 A
A
AGTGAGT
AGTGAGT
3 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
3 HG02145.hp2
HG02922.hp1
NA18906.hp2
HG02145.hp2
HG02922.hp1
NA18906.hp2
intron_variant MODIFIER c.3418+386_3418+387i
others(8): Show 
c.3418+386_3418+387insACTCAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036105
chr10:104036105 AGT
AGT
A
A
36 a0001c0006t0002g0075
a0001c0006t0002g0123
a0001c0006t0003g0041
others(33): Show 
a0001c0006t0002g0075
a0001c0006t0002g0123
a0001c0006t0003g0041
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0032t0002g0226
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0015c0030t0003g0237
a0017c0046t0003g0116
a0021c0051t0003g0069
a0024c0039t0003g0255
38 HG00609.hp1
HG00738.hp1
HG00741.hp2
others(35): Show 
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03710.hp2
HG03831.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp2
NA18967.hp2
NA18991.hp1
NA19004.hp2
NA19088.hp1
NA19091.hp1
intron_variant MODIFIER c.3418+385_3418+386d
others(4): Show 
c.3418+385_3418+386delAC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036105
chr10:104036106 G
G
GTGTGTGT
others(3): Show 
GTGTGTGTATA
1 a0001c0001t0001g0087
a0001c0001t0001g0087
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.3418+385_3418+386i
others(12): Show 
c.3418+385_3418+386insTATACACACA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036106
chr10:104036107 T
T
TGA
TGA
3 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
6 HG00558.hp2
NA18966.hp1
NA18992.hp2
others(3): Show 
HG00558.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.3418+384_3418+385i
others(4): Show 
c.3418+384_3418+385insTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036107
chr10:104036113 T
T
TATATGTG
others(397): Show 
TATATGTGTGTGTATGGGAGTGTATGGGGTGTGTGTATGACTGTGTATGG
GTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTGT
ATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGT
ATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGTG
TATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTA
TGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATG
GGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTATGGG
AGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAG
TGTGA
1 a0019c0056t0001g0063
a0019c0056t0001g0063
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(406): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC
CCATACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(532): Show 
TATATGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTATGGGAGTGAGTG
TGAGTGGGAGTGTGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATG
GGTGTGTATGGGAGAGTGTGTGTGTTTGGGAGTGTATGGGTATGTGTGTA
TGGGAGTGTGTGTATGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTG
TGTATGGGAGTGTGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATG
GGTTGTGTATGGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGA
GTGTGAGTATGGGTGTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGT
GTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGT
GTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGA
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(541): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACACCCATACTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCACTCCCATACACACAC
CCATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTC
CCATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACA
CTCCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCA
CACTCCCATACACACACTCCCATACACACACACCCATACTCACACTCATA
CACACACTCCCATACACACATACCCATACACTCCCAAACACACACACTCT
CCCATACACACCCATACTCACACTCCCATACTCACACACACCCATACGCA
CACTCCCACTCACACTCACTCCCATACACTCCCATACACACACTCCCATA
CACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(532): Show 
TATATGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTATGGGAGTGAGTG
TGAGTGGGAGTGTGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATG
GGTGTGTATGGGAGAGTGTGTGTGTTTGGGAGTGTATGGGTATGTGTGTG
TATGGGAGTGTGTGTATGAGTGAGTATGGGTGTGTGTGTATGGGAGTGTG
TGTATGGGAGTGTGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATG
GGTTGTGTATGGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGA
GTGTGAGTATGGGTGTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGT
GTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGT
GTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGA
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(541): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACACCCATACTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCACTCCCATACACACAC
CCATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTC
CCATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACA
CTCCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCA
CACTCCCATACACACACTCCCATACACACACACCCATACTCACTCATACA
CACACTCCCATACACACACATACCCATACACTCCCAAACACACACACTCT
CCCATACACACCCATACTCACACTCCCATACTCACACACACCCATACGCA
CACTCCCACTCACACTCACTCCCATACACTCCCATACACACACTCCCATA
CACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(513): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGCAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTGTGTATGGGAGTGTGA
2 a0013c0027t0003g0250
a0013c0044t0003g0290
a0013c0027t0003g0250
a0013c0044t0003g0290
2 HG02109.hp2
HG03195.hp2
HG02109.hp2
HG03195.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(522): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC
ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT
ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT
ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC
CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT
CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA
CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC
ACACTGCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC
ATACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(509): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTATGGGAGTGTATGGGGTGTGTGTAT
GACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGT
ATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTAT
GGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTG
TGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTG
TGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG
TGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAG
TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG
TGTGTATGGGAGTGTGA
7 a0001c0024t0001g0097
a0001c0024t0006g0096
a0002c0031t0006g0283
others(4): Show 
a0001c0024t0001g0097
a0001c0024t0006g0096
a0002c0031t0006g0283
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0201
a0005c0005t0001g0205
8 HG00280.hp2
HG01106.hp1
HG01106.hp2
others(5): Show 
HG00280.hp2
HG01106.hp1
HG01106.hp2
HG02280.hp1
HG02451.hp1
HG02886.hp1
NA18974.hp2
NA20752.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(518): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC
CCATACACTCCCATACACACACTCTCCCATACACACACCCATACTCACAC
TCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATAC
ACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(514): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGGTGTGTG
TATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTG
AGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTG
TATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGA
GTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGT
GTGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT
GAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGT
GAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGT
GTGTGTGTGTATGGGAGTGTGA
2 a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0023t0001g0286
a0002c0023t0004g0030
2 HG02145.hp1
NA19030.hp2
HG02145.hp1
NA19030.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(523): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC
ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT
ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT
ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC
CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT
CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA
CCCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACT
CACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCC
CATACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(507): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTAT
GGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTG
TATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTG
TATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTG
TGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG
TGTATGGGAGTGTGA
1 a0009c0012t0001g0147
a0009c0012t0001g0147
1 NA19057.hp2
NA19057.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(516): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCACAGTCATACACACACCCCAT
ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC
CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC
TCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(330): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTATGGGAGTGTGAGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGT
GTGTGTGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGT
GTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGA
2 a0001c0001t0001g0085
a0001c0057t0001g0122
a0001c0001t0001g0085
a0001c0057t0001g0122
2 HG02738.hp1
HG03688.hp1
HG02738.hp1
HG03688.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(339): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACACCCAT
ACACAGTCATACACACACCCCATACACTCCCATACACACACACTCTCCCA
TACACACACCCATACTCACACTCCCATACACACACCCATACGCACACTCC
CACTCACACTCACTCCCATACACTCCCATAGACACACACACTCCCATACA
CACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(507): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTATGGGTTGTGTATGGGAGTGTG
TATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTG
TATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTG
TGTGTATGGGAGTGAGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG
TGTATGGGAGTGTGA
1 a0001c0001t0001g0034
a0001c0001t0001g0034
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(516): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCTCACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACACTCACTCCCATACACACACACCCATACACTCCCATACA
CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA
CACACACTCCCATACACACACACCCATACACAGTCATACACACACCCCAT
ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC
CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC
TCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(511): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG
TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG
TGTGTGTATGGGAGTGTGA
5 a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0118
others(2): Show 
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0118
a0003c0003t0001g0124
a0003c0058t0001g0126
5 HG01167.hp1
HG03704.hp1
HG03831.hp2
others(2): Show 
HG01167.hp1
HG03704.hp1
HG03831.hp2
HG04204.hp2
HG04228.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(520): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC
CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC
ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT
ACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(511): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTG
TGTGTGTATGGGAGTGTGA
1 a0007c0011t0001g0191
a0007c0011t0001g0191
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(520): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC
CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC
ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT
ACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(509): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTATGGGAGTGTGA
2 a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0020t0001g0043
a0003c0020t0001g0150
2 HG01891.hp2
HG02976.hp1
HG01891.hp2
HG02976.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(518): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCATAC
ACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCATAC
ACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATACTC
ACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACAC
AACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATA
CACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCA
TACACACACTCCCATACACACACACCCATACACAGTCATACACACACCCC
ATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACAC
TCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATAC
ACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(511): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTGTATGGGAGTGTGA
102 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(99): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0003c0003t0001g0115
a0003c0003t0002g0079
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0243
a0004c0009t0001g0246
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0206
a0005c0005t0001g0240
a0007c0011t0001g0200
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0148
a0009c0012t0001g0288
a0016c0059t0001g0114
a0018c0055t0001g0195
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
115 HG00140.hp1
HG00140.hp2
HG00423.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01952.hp1
HG02015.hp2
HG02040.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02717.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03453.hp2
HG03490.hp2
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19076.hp2
NA19077.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(520): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC
TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC
ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA
TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC
CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC
CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC
ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT
ACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(513): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG
TGTGTGTGTATGGGAGTGTGA
60 a0001c0001t0001g0051
a0001c0001t0001g0091
a0001c0001t0001g0119
others(57): Show 
a0001c0001t0001g0051
a0001c0001t0001g0091
a0001c0001t0001g0119
a0001c0001t0001g0129
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0225
a0001c0001t0002g0072
a0002c0007t0001g0179
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0117
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0004c0009t0001g0234
a0005c0005t0001g0207
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0020c0054t0001g0105
a0029c0033t0001g0242
66 HG00280.hp1
HG00609.hp2
HG00621.hp2
others(63): Show 
HG00280.hp1
HG00609.hp2
HG00621.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01192.hp2
HG01346.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02056.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp2
HG02738.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03490.hp1
HG03579.hp1
HG03710.hp1
HG03927.hp1
HG03927.hp2
NA18747.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18989.hp1
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19030.hp1
NA19056.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19240.hp1
NA20752.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(522): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC
ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT
ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT
ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC
CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT
CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA
CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC
ACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC
ATACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(507): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
TGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG
TGTATGGGAGTGTGA
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 NA20905.hp1
NA20905.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(516): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCCCATACAC
ACACACACCCATACTCACACTCCCATACACACACACTCACTCCCATACAC
ACACACCCATACTCACACTCCCATACTCCCATACACACACCCATACTCAC
ACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAA
CCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACA
CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA
CACACACTCCCATACACACACACCCATACACAGTCATACACACACCCCAT
ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC
CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC
TCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATATGTG
others(515): Show 
TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG
AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG
GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT
ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA
GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG
TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG
TGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGG
AGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG
AGTGTGTGTGTATGGGAGTGTGA
1 a0001c0006t0003g0044
a0001c0006t0003g0044
1 NA21309.hp1
NA21309.hp1
intron_variant MODIFIER c.3418+378_3418+379i
others(524): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC
CCATACACACACACACCCATACTCACACTCCCATACACACACACTCACTC
CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT
ACACACACACCCATACTCACACTCCCATACTCACTCCCATACACACACCC
ATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCC
ATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACT
CCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCACA
CTCCCATACACACACTCCCATACACACACACCCATACACAGTCATACACA
CACCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATAC
TCACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTC
CCATACACTCCCATAGACACACACACTCCCATACACACACATAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036113 T
T
TATGTGTG
others(511): Show 
TATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAG
TGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGG
TGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGTAT
GACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGT
ATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTAT
GGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTG
TGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTG
TGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG
TGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAG
TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG
TGTGTGTATGGGAGTGTGA
1 a0003c0003t0001g0120
a0003c0003t0001g0120
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.3418+378_3418+379i
others(520): Show 
c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC
TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC
ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC
ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT
ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT
ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC
CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT
CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA
CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC
ACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC
ATACACTCCCATAGACACACACACTCCCATACACACACAT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036113
chr10:104036121 A
A
T
T
192 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(189): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+371T>A
c.3418+371T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036121
chr10:104036127 T
T
A
A
7 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
others(4): Show 
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
10 HG00558.hp2
HG02145.hp2
HG02922.hp1
others(7): Show 
HG00558.hp2
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
intron_variant MODIFIER c.3418+365A>T
c.3418+365A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036127
chr10:104036130 A
A
G
G
1 a0001c0001t0001g0151
a0001c0001t0001g0151
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.3418+362T>C
c.3418+362T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036130
chr10:104036131 T
T
TGG
TGG
12 a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
others(9): Show 
a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
17 HG00558.hp2
HG01081.hp1
HG02145.hp2
others(14): Show 
HG00558.hp2
HG01081.hp1
HG02145.hp2
HG02615.hp1
HG02717.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG03453.hp2
NA18906.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
intron_variant MODIFIER c.3418+360_3418+361i
others(4): Show 
c.3418+360_3418+361insCC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036131
chr10:104036131 T
T
TGGGA
TGGGA
186 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(183): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
204 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(201): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+360_3418+361i
others(6): Show 
c.3418+360_3418+361insTCCC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036131
chr10:104036132 A
A
G
G
198 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0008t0002g0258
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
221 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(218): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+360T>C
c.3418+360T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036132
chr10:104036133 T
T
A
A
5 a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
others(2): Show 
a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
7 HG01081.hp1
HG02615.hp1
HG02717.hp1
others(4): Show 
HG01081.hp1
HG02615.hp1
HG02717.hp1
HG02895.hp2
HG02897.hp2
HG03453.hp2
NA19043.hp1
intron_variant MODIFIER c.3418+359A>T
c.3418+359A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036133
chr10:104036135 T
T
A
A
187 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(184): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
205 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(202): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+357A>T
c.3418+357A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036135
chr10:104036137 T
T
A
A
5 a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
others(2): Show 
a0001c0001t0001g0164
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
7 HG01081.hp1
HG02615.hp1
HG02717.hp1
others(4): Show 
HG01081.hp1
HG02615.hp1
HG02717.hp1
HG02895.hp2
HG02897.hp2
HG03453.hp2
NA19043.hp1
intron_variant MODIFIER c.3418+355A>T
c.3418+355A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036137
chr10:104036142 A
A
G
G
192 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(189): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+350T>C
c.3418+350T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036142
chr10:104036145 G
G
GGAGTGAG
others(5): Show 
GGAGTGAGTGTGT
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(14): Show 
c.3418+346_3418+347insACACACTCACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGAG
others(9): Show 
GGAGTGAGTGTGTGTGT
3 a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
a0006c0008t0002g0258
a0006c0042t0002g0294
a0007c0035t0002g0285
3 HG02145.hp2
HG02922.hp1
NA18906.hp2
HG02145.hp2
HG02922.hp1
NA18906.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(18): Show 
c.3418+346_3418+347insACACACACACTCACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGAG
others(57): Show 
GGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGG
AGTGAGTGTGTGTGT
3 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0204
6 HG00558.hp2
NA18966.hp1
NA18992.hp2
others(3): Show 
HG00558.hp2
NA18966.hp1
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(66): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(538): Show 
GGAGTGTGTGTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCG
TATGGGTGTGTGTGAGTATGGGTGTGTATGGGAGAGTGTGTGTGTTTGGG
AGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAGTGTGAGTATG
GGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTG
TATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTG
TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
ATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
ATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTGTGTGT
7 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(4): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
7 HG02723.hp1
HG02896.hp2
HG02897.hp1
others(4): Show 
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(547): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCCAT
ACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTCCC
ATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCATA
CTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT
CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA
CTCCCATACACACACACCCATACTCACACTCATACACACACTCCCATACA
CACACATACCCATACACTCCCAAACACACACACTCTCCCATACACACCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(536): Show 
GGAGTGTGTGTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCG
TATGGGTGTGTGTGAGTATGGGTGTGTATGGGAGAGTGTGTGTGTTTGGG
AGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAGTGTGAGTATG
GGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTA
TGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGTA
TGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGTGT
ATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGA
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
ATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTAT
GGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTGTAT
GGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTGTGTGT
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(545): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCCAT
ACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTCCC
ATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCATA
CTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT
CACTCCCATACACCCATACACACCCATACTCACACTCCCATACACACACT
CCCATACACACACACCCATACTCACACTCATACACACACTCCCATACACA
CACATACCCATACACTCCCAAACACACACACTCTCCCATACACACCCATA
CTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACACT
CCCATACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(604): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAG
TGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTA
TGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTG
TGTATGAGTGTGAGTATGGGTGTGTGTATGGGAGTGTGTGTATGGGAGTG
TGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAG
TGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGG
GAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGG
GTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG
GAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGG
GAGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT
GAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT
GAGTGTGTGTGT
5 a0002c0010t0001g0006
a0002c0010t0001g0266
a0002c0010t0001g0267
others(2): Show 
a0002c0010t0001g0006
a0002c0010t0001g0266
a0002c0010t0001g0267
a0002c0010t0001g0269
a0002c0010t0001g0270
7 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(4): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02572.hp2
HG02717.hp2
HG03540.hp2
NA18522.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(613): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACTCACTCCCATACACACCCATACTCACACTCCC
ATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCATA
CTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT
CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA
CTCCCATACACACACCCATACTCACACTCATACACACACTCCCATACACA
CACATACCCATACACTCCCATACACACACACTCATACACACACTCCCATA
CACACACATACCCATACACTCCCATACACACACACTCTCCCATACACACC
CATACTCACACTCCCATACACACACCCATACGCACACTCCCACTCACACT
CACTCCCATACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(608): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAG
TGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTA
TGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTG
TGTATGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAG
TGTGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGG
AGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTAT
GGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTAT
GGGTGTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGT
ATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGT
ATGGGAGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG
GAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG
GAGTGAGTGTGTGTGT
1 a0002c0010t0001g0028
a0002c0010t0001g0028
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(617): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC
CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA
TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA
CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA
CACTCCCATACACACACACCCATACTCACACTCATACACACACTCCCATA
CACACACATACCCATACACTCCCATACACACACACTCATACACACACTCC
CATACACACACATACCCATACACTCCCATACACACACACTCTCCCATACA
CACCCATACTCACACTCCCATACACACACCCATACGCACACTCCCACTCA
CACTCACTCCCATACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(531): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAG
AGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGTATGACTGTGTATGGGT
GTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTGTAT
GGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGTAT
GGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGTGTA
TGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTATG
GGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGG
AGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTATGGGAG
TGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTG
TGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
1 a0001c0001t0001g0087
a0001c0001t0001g0087
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(540): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACACACACTCACTCCCATACACACACACACCC
ATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCCAT
ACTCACACTCCCATACTCCCATACACACACCCATACTCACACTCCCATAC
ACACACACCCATACACTCCCATACACACTCCCATACACAACCCATACTCA
CACTCACTCCCATACACACACACCCATACACTCCCATACACACACTCACT
CCCATACACCCATACACACATCCATACTCACACTCCCATACACACACTCC
CATACACACACACCCATACACAGTCATACACACACCCCATACACTCCCAT
ACACACACACTCTCCCATACACACACCCATACTCACACTCCCATACACAC
ACCCATACGCACACTCCCACTCACACTCACTCCCATACACTCCCATAGAC
ACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(544): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTA
TGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTG
TGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTG
TGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGA
GTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGA
GTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GT
4 a0002c0002t0002g0169
a0002c0002t0004g0263
a0005c0015t0002g0256
others(1): Show 
a0002c0002t0002g0169
a0002c0002t0004g0263
a0005c0015t0002g0256
a0005c0015t0002g0257
4 HG02647.hp1
HG02976.hp2
NA18522.hp1
others(1): Show 
HG02647.hp1
HG02976.hp2
NA18522.hp1
NA19065.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(553): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACTCTCCCATACACACCCATACTCACACTCC
CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA
CACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(522): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGGGAGTGTGAGTATGGATGTGTG
TATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTG
TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGTGAGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGG
GTGTGTGTGTATGGGAGTGAGTGTGTGTGT
1 a0001c0006t0002g0139
a0001c0006t0002g0139
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(531): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACCCATACTCACACTCCCAT
ACACACACACTCACTCCCATACACACACACCCATACTCACACTCCCATAC
TCACTCCCATACACACACCCATACTCACACTCCCATACACACACACCCAT
ACACTCCCATACACACTCCCATACACAACCCATACTCACACTCACTCCCA
TACACACACACCCATACACTCCCATACACACACTCACTCCCATACACCCA
TACACACATCCATACTCACACTCCCACACACTCCCATACACACACACCCA
TACTCACACTCATACACACACATACCCATACACTCCCATACACACACACT
CTCCCATACACACCCATACTCACACTCCCATACTCACACACACCCATACG
CACACTCCCACTCACACTCACTCCCATACACTCCCATAGACACACACACT
C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(542): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTATGGGAGTGTATGGGTGTGTGTG
TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
9 a0001c0006t0003g0041
a0004c0004t0002g0241
a0004c0004t0003g0215
others(6): Show 
a0001c0006t0003g0041
a0004c0004t0002g0241
a0004c0004t0003g0215
a0004c0004t0003g0238
a0004c0004t0003g0239
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0017c0046t0003g0116
9 HG00738.hp1
HG02083.hp2
HG03491.hp2
others(6): Show 
HG00738.hp1
HG02083.hp2
HG03491.hp2
HG04228.hp2
NA18939.hp2
NA18967.hp2
NA18991.hp1
NA19004.hp2
NA19091.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(551): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACATTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACT
CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA
CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA
CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(546): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTATGGGAGTGTATGGGTGTGTGTG
TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGT
1 a0005c0036t0003g0157
a0005c0036t0003g0157
1 HG02683.hp1
HG02683.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(555): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACACACCCATACTCACACTCCCATACACACACACTCACTCCCATACACAC
ACACCCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTC
ACACTCCCATACACACACACCCATACACTCCCATACACATTCCCATACAC
AACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT
CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA
TACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(542): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
3 a0002c0002t0004g0261
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0004g0261
a0002c0002t0005g0275
a0002c0002t0005g0277
3 HG02622.hp2
NA18747.hp2
NA19056.hp2
HG02622.hp2
NA18747.hp2
NA19056.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(551): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT
CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA
CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA
CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(544): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG
GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTGTGT
GT
1 a0021c0051t0003g0069
a0021c0051t0003g0069
1 HG02602.hp1
HG02602.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(553): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
CCATACTCACACTCCCATACACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC
CCATACACACACACCCATACACTCCCATACACATTCCCATACACAACCCA
TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA
CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA
CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA
TACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCC
CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA
CACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(546): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG
GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGT
23 a0001c0006t0002g0075
a0001c0006t0002g0123
a0004c0004t0001g0247
others(20): Show 
a0001c0006t0002g0075
a0001c0006t0002g0123
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0228
a0004c0004t0007g0218
a0004c0032t0002g0226
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0015c0030t0003g0237
a0024c0039t0003g0255
25 HG00609.hp1
HG00741.hp2
HG01192.hp1
others(22): Show 
HG00609.hp1
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02273.hp1
HG02273.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03710.hp2
HG03831.hp1
HG04204.hp1
NA19088.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(555): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACATTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT
CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA
TACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(544): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG
GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GT
1 a0002c0002t0002g0175
a0002c0002t0002g0175
1 NA18960.hp1
NA18960.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(553): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC
CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA
TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA
CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA
CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA
TACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCC
CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA
CACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(546): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG
GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGT
36 a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
others(33): Show 
a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0004g0262
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
44 HG00544.hp2
HG00558.hp1
HG00639.hp1
others(41): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp1
HG01358.hp2
HG01433.hp2
HG02071.hp1
HG02155.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03491.hp1
HG03540.hp1
HG03704.hp2
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19009.hp2
NA19011.hp1
NA19060.hp2
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(555): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT
CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA
TACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(546): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG
GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGG
GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGT
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(555): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCACACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT
CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA
TACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(542): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG
TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG
TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG
TGTGTATGGGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
1 a0002c0002t0005g0278
a0002c0002t0005g0278
1 NA18948.hp2
NA18948.hp2
intron_variant MODIFIER c.3418+346_3418+347i
others(551): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCCCATACACACACACCCATACACTCCCATACACACACT
CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA
CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA
CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(560): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTG
TGTATGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAG
TGTGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGG
AGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTAT
GGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTAT
GGGTGTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGT
ATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTAT
GGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTAT
GGGAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTAT
GGGAGTGAGTGTGTGTGT
2 a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0008t0003g0027
a0006c0008t0009g0298
2 HG01243.hp2
HG02109.hp1
HG01243.hp2
HG02109.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(569): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACTCCCA
TACACACACATACCCATACACTCCCATACACACACACTCTCCCATACACA
CCCATACTCACACTCCCATACTCACACACACCCATACGCACACTCCCACT
CACACTCACTCCCATACACTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(542): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTATG
GGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTG
TATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTG
TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT
GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT
GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
2 a0001c0006t0002g0208
a0002c0002t0002g0174
a0001c0006t0002g0208
a0002c0002t0002g0174
2 NA18949.hp1
NA19000.hp1
NA18949.hp1
NA19000.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(551): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC
TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC
CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA
CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA
CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC
CATACACTCCCATACACACACTCCCATACACACCCATACTCACACTCCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
GGAGTGTG
others(542): Show 
GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG
TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG
AGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTA
TGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTG
TGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTG
TGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGA
GTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGA
GTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT
GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT
1 a0004c0004t0003g0224
a0004c0004t0003g0224
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.3418+346_3418+347i
others(551): Show 
c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC
ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC
CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC
ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC
CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA
TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA
CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA
CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA
TACACTCCCATACACACACACTCCCATACACACCCATACTCACACTCCCA
TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA
CTCCCATAGACACACACACTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036145 G
G
T
T
192 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(189): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3418+347C>A
c.3418+347C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036145
chr10:104036168 G
G
T
T
1 a0001c0001t0003g0038
a0001c0001t0003g0038
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.3418+324C>A
c.3418+324C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036168
chr10:104036182 A
A
G
G
2 a0002c0002t0002g0272
a0030c0037t0002g0284
a0002c0002t0002g0272
a0030c0037t0002g0284
2 HG03017.hp2
NA19043.hp2
HG03017.hp2
NA19043.hp2
intron_variant MODIFIER c.3418+310T>C
c.3418+310T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036182
chr10:104036248 G
G
C
C
1 a0004c0004t0003g0228
a0004c0004t0003g0228
1 HG04204.hp1
HG04204.hp1
intron_variant MODIFIER c.3418+244C>G
c.3418+244C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 48/55 chr10 104036248
chr10:104036641 G
G
C
C
192 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(189): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
215 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(212): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3278-9C>G
c.3278-9C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104036641
chr10:104036691 A
A
G
G
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3278-59T>C
c.3278-59T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104036691
chr10:104036838 G
G
T
T
11 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(8): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0010c0021t0001g0251
a0010c0021t0001g0252
a0025c0040t0002g0287
a0028c0045t0001g0029
11 HG01175.hp2
HG01884.hp1
HG02723.hp1
others(8): Show 
HG01175.hp2
HG01884.hp1
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.3278-206C>A
c.3278-206C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104036838
chr10:104036956 G
G
A
A
1 a0004c0004t0001g0249
a0004c0004t0001g0249
1 HG00609.hp1
HG00609.hp1
intron_variant MODIFIER c.3277+89C>T
c.3277+89C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104036956
chr10:104036980 A
A
C
C
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3277+65T>G
c.3277+65T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104036980
chr10:104037031 C
C
G
G
2 a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0008t0003g0027
a0006c0008t0009g0298
2 HG01243.hp2
HG02109.hp1
HG01243.hp2
HG02109.hp1
intron_variant MODIFIER c.3277+14G>C
c.3277+14G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 47/55 chr10 104037031
chr10:104037287 A
A
ATT
ATT
186 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(183): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
209 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3209-176_3209-175d
others(4): Show 
c.3209-176_3209-175dupAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/55 chr10 104037287
chr10:104037287 AT
AT
A
A
39 a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
others(36): Show 
a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0005c0015t0002g0256
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
47 HG00544.hp2
HG00558.hp1
HG00639.hp1
others(44): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp1
HG01358.hp2
HG01433.hp2
HG01884.hp2
HG02071.hp1
HG02155.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03491.hp1
HG03540.hp1
HG03704.hp2
NA18747.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
intron_variant MODIFIER c.3209-175delA
c.3209-175delA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/55 chr10 104037287
chr10:104037417 C
C
A
A
209 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(206): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
232 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(229): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3208+219G>T
c.3208+219G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/55 chr10 104037417
chr10:104037450 C
C
T
T
1 a0002c0002t0002g0296
a0002c0002t0002g0296
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.3208+186G>A
c.3208+186G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/55 chr10 104037450
chr10:104037620 G
G
A
A
189 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(186): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3208+16C>T
c.3208+16C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 46/55 chr10 104037620
chr10:104037935 TA
TA
T
T
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3071-163delT
c.3071-163delT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104037935
chr10:104038216 A
A
G
G
7 a0001c0006t0003g0044
a0006c0008t0002g0258
a0006c0008t0003g0027
others(4): Show 
a0001c0006t0003g0044
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
7 HG01243.hp2
HG02109.hp1
HG02145.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp1
intron_variant MODIFIER c.3070+190T>C
c.3070+190T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038216
chr10:104038227 C
C
T
T
2 a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0003g0238
a0004c0004t0003g0239
2 HG02083.hp2
NA19091.hp1
HG02083.hp2
NA19091.hp1
intron_variant MODIFIER c.3070+179G>A
c.3070+179G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038227
chr10:104038231 T
T
C
C
1 a0004c0004t0003g0239
a0004c0004t0003g0239
1 NA19091.hp1
NA19091.hp1
intron_variant MODIFIER c.3070+175A>G
c.3070+175A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 T
T
TAC
TAC
8 a0002c0002t0002g0291
a0002c0002t0002g0292
a0004c0004t0002g0216
others(5): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0004c0004t0002g0216
a0004c0004t0002g0220
a0004c0004t0003g0228
a0005c0015t0003g0196
a0015c0030t0003g0237
a0021c0051t0003g0069
8 HG01255.hp2
HG01346.hp1
HG02602.hp1
others(5): Show 
HG01255.hp2
HG01346.hp1
HG02602.hp1
HG02896.hp2
HG02897.hp1
HG03710.hp2
HG04204.hp1
NA18939.hp2
intron_variant MODIFIER c.3070+173_3070+174d
others(4): Show 
c.3070+173_3070+174dupGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 T
T
TACACACA
others(3): Show 
TACACACACAC
1 a0004c0004t0001g0247
a0004c0004t0001g0247
1 HG02015.hp1
HG02015.hp1
intron_variant MODIFIER c.3070+165_3070+174d
others(12): Show 
c.3070+165_3070+174dupGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 T
T
TACACACA
others(5): Show 
TACACACACACAC
2 a0004c0004t0001g0249
a0004c0004t0002g0248
a0004c0004t0001g0249
a0004c0004t0002g0248
2 HG00609.hp1
HG02071.hp2
HG00609.hp1
HG02071.hp2
intron_variant MODIFIER c.3070+163_3070+174d
others(14): Show 
c.3070+163_3070+174dupGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TAC
TAC
T
T
10 a0002c0002t0002g0296
a0002c0010t0001g0266
a0002c0010t0001g0269
others(7): Show 
a0002c0002t0002g0296
a0002c0010t0001g0266
a0002c0010t0001g0269
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0222
a0004c0004t0002g0236
a0004c0004t0007g0218
a0017c0046t0003g0116
a0024c0039t0003g0255
11 HG00741.hp2
HG01109.hp2
HG01192.hp1
others(8): Show 
HG00741.hp2
HG01109.hp2
HG01192.hp1
HG02040.hp2
HG02055.hp1
HG02273.hp1
HG02809.hp2
HG02818.hp2
HG03195.hp1
HG03491.hp2
HG03579.hp2
intron_variant MODIFIER c.3070+173_3070+174d
others(4): Show 
c.3070+173_3070+174delGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACAC
TACAC
T
T
12 a0002c0002t0002g0293
a0002c0002t0002g0299
a0002c0002t0003g0274
others(9): Show 
a0002c0002t0002g0293
a0002c0002t0002g0299
a0002c0002t0003g0274
a0004c0004t0002g0230
a0004c0004t0003g0024
a0004c0032t0002g0226
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0036t0003g0157
a0008c0017t0001g0227
a0010c0021t0001g0251
a0010c0021t0001g0252
13 HG01884.hp1
HG02004.hp2
HG02273.hp2
others(10): Show 
HG01884.hp1
HG02004.hp2
HG02273.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02922.hp2
HG03239.hp1
HG03516.hp1
HG03831.hp1
HG06807.hp1
NA18522.hp1
NA20905.hp2
intron_variant MODIFIER c.3070+171_3070+174d
others(6): Show 
c.3070+171_3070+174delGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACAC
TACACAC
T
T
5 a0002c0002t0008g0209
a0002c0010t0001g0028
a0004c0004t0002g0241
others(2): Show 
a0002c0002t0008g0209
a0002c0010t0001g0028
a0004c0004t0002g0241
a0008c0017t0001g0223
a0028c0045t0001g0029
5 HG01175.hp2
HG02965.hp1
HG03139.hp1
others(2): Show 
HG01175.hp2
HG02965.hp1
HG03139.hp1
HG03471.hp1
HG04228.hp2
intron_variant MODIFIER c.3070+169_3070+174d
others(8): Show 
c.3070+169_3070+174delGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(1): Show 
TACACACAC
T
T
10 a0001c0006t0002g0071
a0001c0006t0002g0111
a0001c0006t0003g0044
others(7): Show 
a0001c0006t0002g0071
a0001c0006t0002g0111
a0001c0006t0003g0044
a0001c0053t0002g0055
a0002c0002t0004g0262
a0002c0002t0004g0263
a0004c0004t0002g0235
a0006c0008t0002g0295
a0011c0016t0002g0170
a0027c0043t0002g0273
10 HG01928.hp1
HG02451.hp2
HG02572.hp1
others(7): Show 
HG01928.hp1
HG02451.hp2
HG02572.hp1
HG02976.hp2
HG03098.hp1
HG03491.hp1
HG03704.hp2
NA18991.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.3070+167_3070+174d
others(10): Show 
c.3070+167_3070+174delGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(3): Show 
TACACACACAC
T
T
25 a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
others(22): Show 
a0001c0001t0002g0057
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0011c0016t0002g0017
30 HG00558.hp1
HG00639.hp1
HG01433.hp2
others(27): Show 
HG00558.hp1
HG00639.hp1
HG01433.hp2
HG01884.hp2
HG02071.hp1
HG03017.hp2
HG03098.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp1
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
intron_variant MODIFIER c.3070+165_3070+174d
others(12): Show 
c.3070+165_3070+174delGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(5): Show 
TACACACACACAC
T
T
14 a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
others(11): Show 
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0004g0261
a0002c0002t0004g0271
a0004c0004t0003g0224
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0003g0027
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
17 HG01109.hp1
HG01243.hp2
HG01358.hp2
others(14): Show 
HG01109.hp1
HG01243.hp2
HG01358.hp2
HG02145.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
NA19043.hp2
NA20300.hp1
intron_variant MODIFIER c.3070+163_3070+174d
others(14): Show 
c.3070+163_3070+174delGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(7): Show 
TACACACACACACAC
T
T
4 a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
others(1): Show 
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0006c0008t0009g0298
4 HG00544.hp2
HG02109.hp1
HG02155.hp2
others(1): Show 
HG00544.hp2
HG02109.hp1
HG02155.hp2
NA18948.hp2
intron_variant MODIFIER c.3070+161_3070+174d
others(16): Show 
c.3070+161_3070+174delGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(9): Show 
TACACACACACACACAC
T
T
7 a0001c0001t0001g0091
a0001c0001t0001g0119
a0001c0001t0001g0153
others(4): Show 
a0001c0001t0001g0091
a0001c0001t0001g0119
a0001c0001t0001g0153
a0001c0001t0001g0159
a0002c0002t0005g0275
a0002c0002t0005g0277
a0026c0041t0001g0301
7 HG01993.hp1
HG02004.hp1
NA18747.hp2
others(4): Show 
HG01993.hp1
HG02004.hp1
NA18747.hp2
NA18998.hp1
NA18998.hp2
NA19056.hp2
NA19240.hp2
intron_variant MODIFIER c.3070+159_3070+174d
others(18): Show 
c.3070+159_3070+174delGTGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(11): Show 
TACACACACACACACACAC
T
T
9 a0001c0001t0001g0034
a0001c0001t0001g0060
a0001c0001t0001g0064
others(6): Show 
a0001c0001t0001g0034
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0087
a0001c0001t0001g0164
a0001c0024t0006g0096
a0004c0009t0001g0233
9 HG01081.hp1
HG01515.hp2
HG02280.hp1
others(6): Show 
HG01081.hp1
HG01515.hp2
HG02280.hp1
HG02735.hp1
HG02809.hp1
HG02965.hp2
NA18956.hp1
NA18961.hp2
NA19004.hp1
intron_variant MODIFIER c.3070+157_3070+174d
others(20): Show 
c.3070+157_3070+174delGTGTGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(13): Show 
TACACACACACACACACACAC
T
T
167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0197
a0005c0015t0003g0198
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0191
a0007c0011t0001g0200
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0029c0033t0001g0242
189 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(186): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3070+155_3070+174d
others(22): Show 
c.3070+155_3070+174delGTGTGTGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(15): Show 
TACACACACACACACACACACAC
T
T
8 a0001c0001t0003g0038
a0007c0011t0001g0019
a0007c0011t0001g0189
others(5): Show 
a0001c0001t0003g0038
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0034t0001g0264
a0007c0038t0001g0188
9 HG01891.hp1
HG02129.hp2
HG02280.hp2
others(6): Show 
HG01891.hp1
HG02129.hp2
HG02280.hp2
HG02559.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA19240.hp1
intron_variant MODIFIER c.3070+153_3070+174d
others(24): Show 
c.3070+153_3070+174delGTGTGTGTGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038231 TACACACA
others(17): Show 
TACACACACACACACACACACACAC
T
T
5 a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0019t0001g0300
others(2): Show 
a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0019t0001g0300
a0013c0027t0003g0250
a0013c0044t0003g0290
5 HG02109.hp2
HG02145.hp1
HG03195.hp2
others(2): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp2
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.3070+151_3070+174d
others(26): Show 
c.3070+151_3070+174delGTGTGTGTGTGTGTGTGTGTGTGT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 45/55 chr10 104038231
chr10:104038769 C
C
T
T
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.2948-241G>A
c.2948-241G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 44/55 chr10 104038769
chr10:104038783 A
A
G
G
1 a0004c0009t0002g0289
a0004c0009t0002g0289
1 HG01106.hp1
HG01106.hp1
intron_variant MODIFIER c.2948-255T>C
c.2948-255T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 44/55 chr10 104038783
chr10:104038843 C
C
T
T
7 a0001c0006t0003g0044
a0006c0008t0002g0258
a0006c0008t0003g0027
others(4): Show 
a0001c0006t0003g0044
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0042t0002g0294
a0007c0035t0002g0285
a0030c0037t0002g0284
7 HG01243.hp2
HG02109.hp1
HG02145.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02922.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp1
intron_variant MODIFIER c.2947+228G>A
c.2947+228G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 44/55 chr10 104038843
chr10:104038906 G
G
A
A
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.2947+165C>T
c.2947+165C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 44/55 chr10 104038906
chr10:104039214 C
C
T
T
1 a0003c0003t0001g0049
a0003c0003t0001g0049
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.2897-93G>A
c.2897-93G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 43/55 chr10 104039214
chr10:104039215 G
G
A
A
1 a0004c0004t0002g0230
a0004c0004t0002g0230
1 HG02273.hp2
HG02273.hp2
intron_variant MODIFIER c.2897-94C>T
c.2897-94C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 43/55 chr10 104039215
chr10:104039270 G
G
A
A
1 a0001c0006t0002g0099
a0001c0006t0002g0099
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.2897-149C>T
c.2897-149C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 43/55 chr10 104039270
chr10:104039557 G
G
T
T
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.2822-38C>A
c.2822-38C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 42/55 chr10 104039557
chr10:104039592 G
G
A
A
3 a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
3 NA18747.hp2
NA18948.hp2
NA19056.hp2
NA18747.hp2
NA18948.hp2
NA19056.hp2
intron_variant MODIFIER c.2821+16C>T
c.2821+16C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 42/55 chr10 104039592
chr10:104039737 C
C
T
T
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.2789-97G>A
c.2789-97G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039737
chr10:104039738 G
G
A
A
1 a0001c0014t0001g0135
a0001c0014t0001g0135
1 HG02523.hp2
HG02523.hp2
intron_variant MODIFIER c.2789-98C>T
c.2789-98C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039738
chr10:104039766 CCA
CCA
C
C
45 a0001c0006t0002g0075
a0001c0006t0002g0099
a0001c0006t0002g0123
others(42): Show 
a0001c0006t0002g0075
a0001c0006t0002g0099
a0001c0006t0002g0123
a0001c0006t0003g0041
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0032t0002g0226
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0035t0002g0285
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0015c0030t0003g0237
a0017c0046t0003g0116
a0024c0039t0003g0255
47 HG00609.hp1
HG00639.hp1
HG00738.hp1
others(44): Show 
HG00609.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02273.hp1
HG02273.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03710.hp2
HG03831.hp1
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18948.hp2
NA18967.hp2
NA18991.hp1
NA19004.hp2
NA19056.hp2
NA19088.hp1
NA19091.hp1
intron_variant MODIFIER c.2789-128_2789-127d
others(4): Show 
c.2789-128_2789-127delTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039766
chr10:104039766 CCACACA
CCACACA
C
C
3 a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
3 HG02647.hp1
NA18522.hp1
NA19240.hp1
HG02647.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.2789-132_2789-127d
others(8): Show 
c.2789-132_2789-127delTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039766
chr10:104039786 ACACACAC
others(3): Show 
ACACACACACG
A
A
8 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(5): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0025c0040t0002g0287
8 HG02723.hp1
HG02896.hp2
HG02897.hp1
others(5): Show 
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.2789-156_2789-147d
others(12): Show 
c.2789-156_2789-147delCGTGTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039786
chr10:104039788 ACACACAC
others(1): Show 
ACACACACG
A
A
5 a0006c0008t0002g0258
a0006c0042t0002g0294
a0010c0021t0001g0251
others(2): Show 
a0006c0008t0002g0258
a0006c0042t0002g0294
a0010c0021t0001g0251
a0010c0021t0001g0252
a0030c0037t0002g0284
5 HG01884.hp1
HG02145.hp2
HG03516.hp1
others(2): Show 
HG01884.hp1
HG02145.hp2
HG03516.hp1
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.2789-156_2789-149d
others(10): Show 
c.2789-156_2789-149delCGTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039788
chr10:104039790 ACACACG
ACACACG
A
A
10 a0001c0006t0003g0044
a0002c0023t0004g0030
a0003c0003t0001g0050
others(7): Show 
a0001c0006t0003g0044
a0002c0023t0004g0030
a0003c0003t0001g0050
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
a0028c0045t0001g0029
10 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(7): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02896.hp1
HG03195.hp2
HG04204.hp2
NA19030.hp1
NA19030.hp2
NA21309.hp1
intron_variant MODIFIER c.2789-156_2789-151d
others(8): Show 
c.2789-156_2789-151delCGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039790
chr10:104039792 ACACG
ACACG
A
A
17 a0001c0001t0001g0062
a0001c0001t0001g0078
a0001c0001t0001g0087
others(14): Show 
a0001c0001t0001g0062
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0100
a0001c0001t0001g0143
a0002c0007t0001g0026
a0002c0023t0001g0286
a0003c0003t0001g0014
a0003c0003t0001g0042
a0003c0003t0001g0048
a0003c0003t0001g0084
a0003c0003t0001g0130
a0003c0003t0001g0152
a0004c0009t0001g0221
a0009c0012t0001g0148
a0010c0028t0001g0254
19 HG00741.hp1
HG01081.hp2
HG01175.hp1
others(16): Show 
HG00741.hp1
HG01081.hp2
HG01175.hp1
HG01928.hp2
HG02132.hp2
HG02145.hp1
HG02257.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02738.hp2
HG02809.hp1
HG03041.hp1
NA18747.hp1
NA18947.hp2
NA18955.hp1
NA19063.hp1
NA20300.hp2
intron_variant MODIFIER c.2789-156_2789-153d
others(6): Show 
c.2789-156_2789-153delCGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039792
chr10:104039794 ACG
ACG
A
A
159 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(156): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0015
a0003c0003t0001g0049
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0029c0033t0001g0242
180 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(177): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2789-156_2789-155d
others(4): Show 
c.2789-156_2789-155delCG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039794
chr10:104039796 G
G
A
A
10 a0001c0001t0001g0059
a0001c0001t0001g0086
a0001c0001t0001g0113
others(7): Show 
a0001c0001t0001g0059
a0001c0001t0001g0086
a0001c0001t0001g0113
a0001c0001t0001g0129
a0001c0001t0001g0140
a0001c0001t0001g0225
a0001c0057t0001g0122
a0003c0003t0001g0047
a0004c0009t0001g0246
a0026c0041t0001g0301
10 HG01074.hp1
HG01167.hp2
HG02738.hp1
others(7): Show 
HG01074.hp1
HG01167.hp2
HG02738.hp1
HG03710.hp1
NA18948.hp1
NA18994.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19240.hp2
intron_variant MODIFIER c.2789-156C>T
c.2789-156C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039796
chr10:104039802 G
G
A
A
2 a0001c0001t0001g0087
a0002c0023t0004g0030
a0001c0001t0001g0087
a0002c0023t0004g0030
2 HG02809.hp1
NA19030.hp2
HG02809.hp1
NA19030.hp2
intron_variant MODIFIER c.2789-162C>T
c.2789-162C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039802
chr10:104039841 C
C
A
A
190 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(187): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
213 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(210): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2788+132G>T
c.2788+132G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 41/55 chr10 104039841
chr10:104040126 C
C
T
T
1 a0001c0006t0003g0044
a0001c0006t0003g0044
1 NA21309.hp1
NA21309.hp1
intron_variant MODIFIER c.2762-127G>A
c.2762-127G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 40/55 chr10 104040126
chr10:104040288 G
G
T
T
9 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(6): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0176
a0002c0002t0002g0182
13 NA18951.hp1
NA18961.hp1
NA18964.hp1
others(10): Show 
NA18951.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18992.hp1
NA18995.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
intron_variant MODIFIER c.2761+63C>A
c.2761+63C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 40/55 chr10 104040288
chr10:104040521 G
G
C
C
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.2702-111C>G
c.2702-111C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040521
chr10:104040563 C
C
T
T
193 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(190): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
216 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(213): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2702-153G>A
c.2702-153G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040563
chr10:104040570 G
G
GTGGA
GTGGA
52 a0001c0006t0002g0075
a0001c0006t0002g0123
a0001c0006t0003g0041
others(49): Show 
a0001c0006t0002g0075
a0001c0006t0002g0123
a0001c0006t0003g0041
a0001c0006t0003g0044
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0032t0002g0226
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0042t0002g0294
a0007c0035t0002g0285
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0010c0021t0001g0251
a0010c0021t0001g0252
a0015c0030t0003g0237
a0017c0046t0003g0116
a0021c0051t0003g0069
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0030c0037t0002g0284
54 HG00609.hp1
HG00738.hp1
HG00741.hp2
others(51): Show 
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18967.hp2
NA18991.hp1
NA19004.hp2
NA19043.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp2
NA21309.hp1
intron_variant MODIFIER c.2702-164_2702-161d
others(6): Show 
c.2702-164_2702-161dupTCCA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040570
chr10:104040570 GTGGATGG
others(5): Show 
GTGGATGGATGGA
G
G
1 a0005c0015t0003g0196
a0005c0015t0003g0196
1 NA18939.hp2
NA18939.hp2
intron_variant MODIFIER c.2702-172_2702-161d
others(14): Show 
c.2702-172_2702-161delTCCATCCATCCA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040570
chr10:104040586 ATGGATGG
others(9): Show 
ATGGATGGATGGATAGG
A
A
14 a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0085
others(11): Show 
a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0093
a0001c0001t0002g0031
a0002c0007t0001g0181
a0003c0003t0001g0084
a0006c0019t0001g0300
a0007c0011t0001g0191
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
14 HG00423.hp2
HG01168.hp2
HG01358.hp1
others(11): Show 
HG00423.hp2
HG01168.hp2
HG01358.hp1
HG01433.hp1
HG02109.hp2
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
HG03688.hp1
NA18978.hp1
NA19030.hp1
intron_variant MODIFIER c.2702-192_2702-177d
others(18): Show 
c.2702-192_2702-177delCCTATCCATCCATCCA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040586
chr10:104040590 ATGGATGG
others(5): Show 
ATGGATGGATAGG
A
A
168 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(165): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
191 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(188): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2702-192_2702-181d
others(14): Show 
c.2702-192_2702-181delCCTATCCATCCA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040590
chr10:104040594 ATGGATAG
others(1): Show 
ATGGATAGG
A
A
9 a0001c0001t0001g0034
a0001c0001t0001g0045
a0001c0001t0001g0129
others(6): Show 
a0001c0001t0001g0034
a0001c0001t0001g0045
a0001c0001t0001g0129
a0001c0014t0001g0135
a0001c0052t0001g0033
a0003c0020t0001g0150
a0004c0009t0001g0217
a0005c0005t0001g0206
a0005c0005t0001g0207
9 HG01074.hp2
HG01891.hp2
HG02523.hp2
others(6): Show 
HG01074.hp2
HG01891.hp2
HG02523.hp2
HG02735.hp1
HG02735.hp2
HG03942.hp2
NA18960.hp2
NA19010.hp1
NA19011.hp2
intron_variant MODIFIER c.2702-192_2702-185d
others(10): Show 
c.2702-192_2702-185delCCTATCCA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040594
chr10:104040756 C
C
T
T
206 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(203): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0003g0044
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
229 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(226): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2701+309G>A
c.2701+309G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104040756
chr10:104041016 G
G
A
A
18 a0003c0003t0001g0011
a0003c0003t0001g0081
a0003c0003t0001g0127
others(15): Show 
a0003c0003t0001g0011
a0003c0003t0001g0081
a0003c0003t0001g0127
a0003c0003t0001g0131
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0004c0009t0001g0234
a0006c0019t0001g0178
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0014c0022t0001g0210
a0014c0022t0001g0214
19 HG00621.hp2
HG01192.hp2
HG01975.hp2
others(16): Show 
HG00621.hp2
HG01192.hp2
HG01975.hp2
HG01993.hp2
HG02056.hp2
HG02148.hp1
HG02300.hp1
HG03927.hp1
HG03927.hp2
NA18951.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18989.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19066.hp1
intron_variant MODIFIER c.2701+49C>T
c.2701+49C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 39/55 chr10 104041016
chr10:104041135 C
C
T
T
3 a0001c0001t0001g0141
a0004c0009t0001g0217
a0004c0009t0001g0243
a0001c0001t0001g0141
a0004c0009t0001g0217
a0004c0009t0001g0243
3 HG00642.hp2
HG01168.hp1
HG03942.hp2
HG00642.hp2
HG01168.hp1
HG03942.hp2
intron_variant MODIFIER c.2648-17G>A
c.2648-17G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 38/55 chr10 104041135
chr10:104041196 G
G
T
T
9 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(6): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0010c0021t0001g0251
a0010c0021t0001g0252
9 HG01884.hp1
HG02723.hp1
HG02896.hp2
others(6): Show 
HG01884.hp1
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.2648-78C>A
c.2648-78C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 38/55 chr10 104041196
chr10:104041467 G
G
T
T
1 a0008c0013t0001g0213
a0008c0013t0001g0213
1 NA18965.hp2
NA18965.hp2
intron_variant MODIFIER c.2605+18C>A
c.2605+18C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 37/55 chr10 104041467
chr10:104041616 A
A
T
T
7 a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
others(4): Show 
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
7 HG01109.hp1
HG02559.hp2
HG02622.hp2
others(4): Show 
HG01109.hp1
HG02559.hp2
HG02622.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
intron_variant MODIFIER c.2552-78T>A
c.2552-78T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041616
chr10:104041845 G
G
A
A
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.2552-307C>T
c.2552-307C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041845
chr10:104041894 CT
CT
C
C
189 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(186): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0029c0033t0001g0242
212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2552-357delA
c.2552-357delA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041894
chr10:104041908 G
G
T
T
1 a0005c0005t0001g0240
a0005c0005t0001g0240
1 HG03942.hp1
HG03942.hp1
intron_variant MODIFIER c.2552-370C>A
c.2552-370C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041908
chr10:104041947 G
G
A
A
15 a0001c0006t0003g0044
a0002c0002t0002g0265
a0002c0002t0002g0291
others(12): Show 
a0001c0006t0003g0044
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0042t0002g0294
a0007c0035t0002g0285
a0025c0040t0002g0287
a0030c0037t0002g0284
15 HG01243.hp2
HG02109.hp1
HG02145.hp2
others(12): Show 
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp1
intron_variant MODIFIER c.2552-409C>T
c.2552-409C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041947
chr10:104041948 G
G
A
A
15 a0001c0006t0003g0044
a0002c0002t0002g0265
a0002c0002t0002g0291
others(12): Show 
a0001c0006t0003g0044
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0258
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0042t0002g0294
a0007c0035t0002g0285
a0025c0040t0002g0287
a0030c0037t0002g0284
15 HG01243.hp2
HG02109.hp1
HG02145.hp2
others(12): Show 
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp1
intron_variant MODIFIER c.2552-410C>T
c.2552-410C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104041948
chr10:104042060 G
G
A
A
37 a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
others(34): Show 
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0053t0002g0055
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
45 HG00544.hp2
HG00639.hp1
HG01358.hp2
others(42): Show 
HG00544.hp2
HG00639.hp1
HG01358.hp2
HG01433.hp2
HG01884.hp2
HG02071.hp1
HG02155.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03491.hp1
HG03540.hp1
HG03704.hp2
NA18747.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
intron_variant MODIFIER c.2551+360C>T
c.2551+360C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104042060
chr10:104042204 G
G
T
T
4 a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
others(1): Show 
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
4 HG01975.hp2
HG01993.hp2
HG02300.hp1
others(1): Show 
HG01975.hp2
HG01993.hp2
HG02300.hp1
NA18999.hp2
intron_variant MODIFIER c.2551+216C>A
c.2551+216C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104042204
chr10:104042230 A
A
C
C
15 a0001c0006t0002g0075
a0001c0006t0002g0123
a0004c0004t0002g0023
others(12): Show 
a0001c0006t0002g0075
a0001c0006t0002g0123
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0007g0218
a0004c0032t0002g0226
a0008c0017t0001g0223
a0008c0017t0001g0227
16 HG00741.hp2
HG01192.hp1
HG01255.hp2
others(13): Show 
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02273.hp1
HG02273.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03471.hp1
intron_variant MODIFIER c.2551+190T>G
c.2551+190T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 36/55 chr10 104042230
chr10:104042594 G
G
A
A
1 a0004c0009t0001g0234
a0004c0009t0001g0234
1 HG03927.hp1
HG03927.hp1
intron_variant MODIFIER c.2516-139C>T
c.2516-139C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042594
chr10:104042608 G
G
A
A
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.2516-153C>T
c.2516-153C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042608
chr10:104042650 C
C
T
T
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.2516-195G>A
c.2516-195G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042650
chr10:104042794 A
A
G
G
1 a0005c0015t0002g0257
a0005c0015t0002g0257
1 NA18522.hp1
NA18522.hp1
intron_variant MODIFIER c.2516-339T>C
c.2516-339T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042794
chr10:104042908 C
C
T
T
2 a0005c0015t0002g0257
a0007c0034t0001g0264
a0005c0015t0002g0257
a0007c0034t0001g0264
2 NA18522.hp1
NA19240.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.2516-453G>A
c.2516-453G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042908
chr10:104042968 A
A
T
T
16 a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0084
others(13): Show 
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0084
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
a0028c0045t0001g0029
17 HG01175.hp2
HG01891.hp1
HG02109.hp2
others(14): Show 
HG01175.hp2
HG01891.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03579.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.2516-513T>A
c.2516-513T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104042968
chr10:104043106 A
A
G
G
3 a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
3 HG02647.hp1
NA18522.hp1
NA19240.hp1
HG02647.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.2515+395T>C
c.2515+395T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104043106
chr10:104043203 C
C
G
G
6 a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
others(3): Show 
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
7 HG01891.hp1
HG02280.hp2
HG02559.hp1
others(4): Show 
HG01891.hp1
HG02280.hp2
HG02559.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
intron_variant MODIFIER c.2515+298G>C
c.2515+298G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104043203
chr10:104043226 C
C
T
T
3 a0001c0014t0001g0134
a0001c0014t0001g0136
a0005c0015t0003g0196
a0001c0014t0001g0134
a0001c0014t0001g0136
a0005c0015t0003g0196
3 NA18939.hp2
NA18968.hp2
NA19087.hp1
NA18939.hp2
NA18968.hp2
NA19087.hp1
intron_variant MODIFIER c.2515+275G>A
c.2515+275G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104043226
chr10:104043322 A
A
G
G
228 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(225): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0003g0224
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0197
a0005c0015t0003g0198
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0200
a0007c0034t0001g0264
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0027c0043t0002g0273
a0029c0033t0001g0242
258 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(255): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2515+179T>C
c.2515+179T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104043322
chr10:104043398 G
G
T
T
8 a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
others(5): Show 
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0025c0040t0002g0287
8 HG02723.hp1
HG02896.hp2
HG02897.hp1
others(5): Show 
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
intron_variant MODIFIER c.2515+103C>A
c.2515+103C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 35/55 chr10 104043398
chr10:104043711 C
C
T
T
3 a0001c0001t0002g0072
a0003c0003t0001g0073
a0003c0003t0002g0112
a0001c0001t0002g0072
a0003c0003t0001g0073
a0003c0003t0002g0112
3 HG01952.hp2
HG01975.hp1
HG02148.hp2
HG01952.hp2
HG01975.hp1
HG02148.hp2
intron_variant MODIFIER c.2434+114G>A
c.2434+114G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 34/55 chr10 104043711
chr10:104043754 G
G
A
A
5 a0001c0026t0004g0149
a0002c0002t0004g0262
a0002c0002t0004g0263
others(2): Show 
a0001c0026t0004g0149
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0007c0011t0001g0192
5 HG01109.hp1
HG02559.hp1
HG02976.hp2
others(2): Show 
HG01109.hp1
HG02559.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
intron_variant MODIFIER c.2434+71C>T
c.2434+71C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 34/55 chr10 104043754
chr10:104044193 C
C
T
T
269 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(266): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0019t0001g0178
a0006c0019t0001g0185
a0007c0011t0001g0200
a0007c0034t0001g0264
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0029c0033t0001g0242
301 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(298): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2399-333G>A
c.2399-333G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044193
chr10:104044308 G
G
T
T
2 a0013c0027t0003g0250
a0013c0044t0003g0290
a0013c0027t0003g0250
a0013c0044t0003g0290
2 HG02109.hp2
HG03195.hp2
HG02109.hp2
HG03195.hp2
intron_variant MODIFIER c.2399-448C>A
c.2399-448C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044308
chr10:104044348 T
T
C
C
16 a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0084
others(13): Show 
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0084
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
a0028c0045t0001g0029
17 HG01175.hp2
HG01891.hp1
HG02109.hp2
others(14): Show 
HG01175.hp2
HG01891.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03579.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.2399-488A>G
c.2399-488A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044348
chr10:104044475 C
C
A
A
1 a0004c0009t0001g0217
a0004c0009t0001g0217
1 HG03942.hp2
HG03942.hp2
intron_variant MODIFIER c.2399-615G>T
c.2399-615G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044475
chr10:104044582 C
C
G
G
7 a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
others(4): Show 
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0026t0004g0149
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
7 HG01109.hp1
HG02559.hp2
HG02622.hp2
others(4): Show 
HG01109.hp1
HG02559.hp2
HG02622.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
intron_variant MODIFIER c.2399-722G>C
c.2399-722G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044582
chr10:104044800 G
G
C
C
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.2399-940C>G
c.2399-940C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044800
chr10:104044865 C
C
T
T
3 a0001c0006t0003g0044
a0006c0008t0003g0027
a0006c0008t0009g0298
a0001c0006t0003g0044
a0006c0008t0003g0027
a0006c0008t0009g0298
3 HG01243.hp2
HG02109.hp1
NA21309.hp1
HG01243.hp2
HG02109.hp1
NA21309.hp1
intron_variant MODIFIER c.2398+893G>A
c.2398+893G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104044865
chr10:104045062 G
G
C
C
2 a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0023t0001g0286
a0002c0023t0004g0030
2 HG02145.hp1
NA19030.hp2
HG02145.hp1
NA19030.hp2
intron_variant MODIFIER c.2398+696C>G
c.2398+696C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045062
chr10:104045160 A
A
G
G
1 a0001c0001t0001g0104
a0001c0001t0001g0104
1 HG02015.hp2
HG02015.hp2
intron_variant MODIFIER c.2398+598T>C
c.2398+598T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045160
chr10:104045210 C
C
T
T
9 a0001c0006t0003g0041
a0004c0004t0002g0241
a0004c0004t0003g0215
others(6): Show 
a0001c0006t0003g0041
a0004c0004t0002g0241
a0004c0004t0003g0215
a0004c0004t0003g0238
a0004c0004t0003g0239
a0005c0015t0003g0196
a0005c0036t0003g0157
a0017c0046t0003g0116
a0021c0051t0003g0069
9 HG00738.hp1
HG02083.hp2
HG02602.hp1
others(6): Show 
HG00738.hp1
HG02083.hp2
HG02602.hp1
HG02683.hp1
HG03491.hp2
HG04228.hp2
NA18939.hp2
NA18991.hp1
NA19091.hp1
intron_variant MODIFIER c.2398+548G>A
c.2398+548G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045210
chr10:104045339 T
T
A
A
188 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(185): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0123
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0003g0197
a0005c0015t0003g0198
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
210 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+419A>T
c.2398+419A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045339
chr10:104045404 T
T
A
A
188 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(185): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0123
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0003g0197
a0005c0015t0003g0198
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
210 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+354A>T
c.2398+354A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045404
chr10:104045430 G
G
A
A
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.2398+328C>T
c.2398+328C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045430
chr10:104045497 T
T
C
C
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+261A>G
c.2398+261A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045497
chr10:104045552 G
G
A
A
187 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(184): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0123
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0006c0019t0001g0300
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
209 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+206C>T
c.2398+206C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045552
chr10:104045570 G
G
A
A
17 a0001c0006t0002g0075
a0004c0004t0002g0023
a0004c0004t0002g0211
others(14): Show 
a0001c0006t0002g0075
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0007g0218
a0004c0032t0002g0226
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0027c0043t0002g0273
21 HG00741.hp2
HG01192.hp1
HG01255.hp2
others(18): Show 
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02040.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG03225.hp1
HG03540.hp1
NA21309.hp2
intron_variant MODIFIER c.2398+188C>T
c.2398+188C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045570
chr10:104045678 G
G
A
A
294 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0265
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
327 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(324): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+80C>T
c.2398+80C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045678
chr10:104045739 C
C
T
T
111 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0007t0001g0026
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0031t0006g0283
a0003c0003t0001g0076
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0120
a0003c0003t0002g0079
a0003c0020t0001g0043
a0003c0020t0001g0150
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0243
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0197
a0005c0015t0003g0198
a0007c0011t0001g0200
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0018c0055t0001g0195
a0019c0056t0001g0063
a0022c0048t0001g0053
a0026c0041t0001g0301
127 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(124): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG06807.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19076.hp2
NA19077.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2398+19G>A
c.2398+19G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 33/55 chr10 104045739
chr10:104045917 C
C
G
G
2 a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0023t0001g0286
a0002c0023t0004g0030
2 HG02145.hp1
NA19030.hp2
HG02145.hp1
NA19030.hp2
intron_variant MODIFIER c.2363-124G>C
c.2363-124G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104045917
chr10:104046077 G
G
A
A
2 a0010c0028t0001g0254
a0010c0029t0004g0253
a0010c0028t0001g0254
a0010c0029t0004g0253
2 HG02896.hp1
HG03041.hp1
HG02896.hp1
HG03041.hp1
intron_variant MODIFIER c.2363-284C>T
c.2363-284C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046077
chr10:104046122 G
G
A
A
2 a0003c0020t0001g0150
a0006c0019t0001g0300
a0003c0020t0001g0150
a0006c0019t0001g0300
2 HG01891.hp2
NA19030.hp1
HG01891.hp2
NA19030.hp1
intron_variant MODIFIER c.2363-329C>T
c.2363-329C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046122
chr10:104046137 A
A
T
T
5 a0002c0002t0008g0209
a0003c0020t0001g0150
a0006c0008t0002g0258
others(2): Show 
a0002c0002t0008g0209
a0003c0020t0001g0150
a0006c0008t0002g0258
a0006c0019t0001g0300
a0016c0059t0001g0114
5 HG01891.hp2
HG02258.hp2
HG02965.hp1
others(2): Show 
HG01891.hp2
HG02258.hp2
HG02965.hp1
NA18906.hp2
NA19030.hp1
intron_variant MODIFIER c.2363-344T>A
c.2363-344T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046137
chr10:104046143 A
A
G
G
9 a0001c0024t0006g0096
a0002c0002t0002g0265
a0002c0002t0002g0291
others(6): Show 
a0001c0024t0006g0096
a0002c0002t0002g0265
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0299
a0002c0031t0006g0283
a0007c0011t0001g0189
9 HG02280.hp1
HG02451.hp1
HG02723.hp1
others(6): Show 
HG02280.hp1
HG02451.hp1
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
intron_variant MODIFIER c.2363-350T>C
c.2363-350T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046143
chr10:104046552 C
C
A
A
210 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(207): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0184
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0003g0177
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0036t0003g0157
a0006c0008t0002g0258
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0021c0051t0003g0069
a0023c0047t0001g0156
a0024c0039t0003g0255
234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2362+195G>T
c.2362+195G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046552
chr10:104046553 G
G
A
A
1 a0002c0007t0001g0180
a0002c0007t0001g0180
1 NA18947.hp1
NA18947.hp1
intron_variant MODIFIER c.2362+194C>T
c.2362+194C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046553
chr10:104046624 G
G
C
C
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.2362+123C>G
c.2362+123C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046624
chr10:104046644 G
G
C
C
2 a0002c0023t0001g0286
a0004c0004t0003g0224
a0002c0023t0001g0286
a0004c0004t0003g0224
2 HG02145.hp1
NA20300.hp1
HG02145.hp1
NA20300.hp1
intron_variant MODIFIER c.2362+103C>G
c.2362+103C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 32/55 chr10 104046644
chr10:104046853 C
C
T
T
2 a0001c0001t0001g0101
a0023c0047t0001g0156
a0001c0001t0001g0101
a0023c0047t0001g0156
2 HG02257.hp1
HG02818.hp1
HG02257.hp1
HG02818.hp1
intron_variant MODIFIER c.2336-80G>A
c.2336-80G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104046853
chr10:104046884 T
T
C
C
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.2336-111A>G
c.2336-111A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104046884
chr10:104046975 C
C
T
T
1 a0008c0013t0001g0232
a0008c0013t0001g0232
1 NA18966.hp2
NA18966.hp2
intron_variant MODIFIER c.2336-202G>A
c.2336-202G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104046975
chr10:104047123 C
C
A
A
1 a0016c0059t0001g0114
a0016c0059t0001g0114
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.2336-350G>T
c.2336-350G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047123
chr10:104047127 C
C
T
T
2 a0007c0035t0002g0285
a0030c0037t0002g0284
a0007c0035t0002g0285
a0030c0037t0002g0284
2 HG02922.hp1
NA19043.hp2
HG02922.hp1
NA19043.hp2
intron_variant MODIFIER c.2336-354G>A
c.2336-354G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047127
chr10:104047251 T
T
C
C
1 a0003c0020t0001g0043
a0003c0020t0001g0043
1 HG02976.hp1
HG02976.hp1
intron_variant MODIFIER c.2336-478A>G
c.2336-478A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047251
chr10:104047260 G
G
A
A
3 a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
3 HG02145.hp1
HG03139.hp1
NA19030.hp2
HG02145.hp1
HG03139.hp1
NA19030.hp2
intron_variant MODIFIER c.2335+479C>T
c.2335+479C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047260
chr10:104047335 A
A
G
G
19 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(16): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
a0016c0059t0001g0114
a0024c0039t0003g0255
a0025c0040t0002g0287
19 HG01884.hp1
HG02109.hp1
HG02109.hp2
others(16): Show 
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.2335+404T>C
c.2335+404T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047335
chr10:104047553 C
C
T
T
7 a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
others(4): Show 
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
a0016c0059t0001g0114
7 HG02109.hp1
HG02109.hp2
HG02145.hp2
others(4): Show 
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp2
HG02451.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.2335+186G>A
c.2335+186G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047553
chr10:104047554 G
G
A
A
4 a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0050t0001g0098
others(1): Show 
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0050t0001g0098
a0003c0003t0001g0076
5 HG01071.hp2
HG01515.hp2
HG03017.hp1
others(2): Show 
HG01071.hp2
HG01515.hp2
HG03017.hp1
HG06807.hp2
NA20752.hp1
intron_variant MODIFIER c.2335+185C>T
c.2335+185C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047554
chr10:104047652 T
T
TGCACAC
TGCACAC
3 a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
3 HG02145.hp1
HG03139.hp1
NA19030.hp2
HG02145.hp1
HG03139.hp1
NA19030.hp2
intron_variant MODIFIER c.2335+81_2335+86dup
others(6): Show 
c.2335+81_2335+86dupGTGTGC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 31/55 chr10 104047652
chr10:104047938 A
A
T
T
1 a0001c0001t0001g0064
a0001c0001t0001g0064
1 NA18956.hp1
NA18956.hp1
intron_variant MODIFIER c.2264-128T>A
c.2264-128T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 30/55 chr10 104047938
chr10:104048033 G
G
A
A
1 a0001c0014t0001g0135
a0001c0014t0001g0135
1 HG02523.hp2
HG02523.hp2
intron_variant MODIFIER c.2263+36C>T
c.2263+36C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 30/55 chr10 104048033
chr10:104048151 C
C
T
T
2 a0001c0001t0001g0108
a0001c0049t0001g0061
a0001c0001t0001g0108
a0001c0049t0001g0061
2 HG01255.hp1
HG02300.hp2
HG01255.hp1
HG02300.hp2
intron_variant MODIFIER c.2228-47G>A
c.2228-47G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048151
chr10:104048170 T
T
C
C
2 a0002c0010t0001g0028
a0028c0045t0001g0029
a0002c0010t0001g0028
a0028c0045t0001g0029
2 HG01175.hp2
HG03139.hp1
HG01175.hp2
HG03139.hp1
intron_variant MODIFIER c.2228-66A>G
c.2228-66A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048170
chr10:104048339 T
T
C
C
2 a0002c0010t0001g0028
a0028c0045t0001g0029
a0002c0010t0001g0028
a0028c0045t0001g0029
2 HG01175.hp2
HG03139.hp1
HG01175.hp2
HG03139.hp1
intron_variant MODIFIER c.2228-235A>G
c.2228-235A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048339
chr10:104048351 C
C
T
T
1 a0001c0006t0002g0111
a0001c0006t0002g0111
1 HG02572.hp1
HG02572.hp1
intron_variant MODIFIER c.2228-247G>A
c.2228-247G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048351
chr10:104048441 C
C
A
A
1 a0006c0019t0001g0185
a0006c0019t0001g0185
1 NA18980.hp1
NA18980.hp1
intron_variant MODIFIER c.2228-337G>T
c.2228-337G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048441
chr10:104048599 G
G
A
A
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.2228-495C>T
c.2228-495C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048599
chr10:104048763 G
G
C
C
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.2227+646C>G
c.2227+646C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048763
chr10:104048807 T
T
C
C
1 a0007c0035t0002g0285
a0007c0035t0002g0285
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.2227+602A>G
c.2227+602A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048807
chr10:104048829 CTT
CTT
C
C
17 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(14): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0023t0001g0286
a0002c0023t0004g0030
a0005c0015t0002g0257
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0034t0001g0264
a0013c0027t0003g0250
a0013c0044t0003g0290
17 HG01243.hp2
HG02109.hp1
HG02109.hp2
others(14): Show 
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.2227+578_2227+579d
others(4): Show 
c.2227+578_2227+579delAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048829
chr10:104048843 G
G
T
T
1 a0002c0002t0002g0293
a0002c0002t0002g0293
1 HG02723.hp1
HG02723.hp1
intron_variant MODIFIER c.2227+566C>A
c.2227+566C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048843
chr10:104048898 G
G
A
A
1 a0001c0052t0001g0033
a0001c0052t0001g0033
1 NA19011.hp2
NA19011.hp2
intron_variant MODIFIER c.2227+511C>T
c.2227+511C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104048898
chr10:104049123 A
A
G
G
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.2227+286T>C
c.2227+286T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104049123
chr10:104049345 C
C
G
G
1 a0002c0002t0002g0184
a0002c0002t0002g0184
1 NA18955.hp2
NA18955.hp2
intron_variant MODIFIER c.2227+64G>C
c.2227+64G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 29/55 chr10 104049345
chr10:104049573 T
T
C
C
1 a0001c0001t0001g0163
a0001c0001t0001g0163
1 NA19077.hp2
NA19077.hp2
intron_variant MODIFIER c.2165-102A>G
c.2165-102A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049573
chr10:104049667 A
A
G
G
48 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(45): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0005c0015t0002g0256
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0178
a0006c0019t0001g0185
a0011c0016t0002g0017
a0011c0016t0002g0170
a0026c0041t0001g0301
a0027c0043t0002g0273
58 HG00423.hp2
HG00544.hp2
HG00621.hp2
others(55): Show 
HG00423.hp2
HG00544.hp2
HG00621.hp2
HG01109.hp1
HG01358.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp2
HG03540.hp1
NA18747.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.2165-196T>C
c.2165-196T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049667
chr10:104049722 C
C
T
T
1 a0003c0003t0001g0160
a0003c0003t0001g0160
1 HG02300.hp1
HG02300.hp1
intron_variant MODIFIER c.2165-251G>A
c.2165-251G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049722
chr10:104049819 T
T
C
C
1 a0003c0003t0001g0131
a0003c0003t0001g0131
1 NA18994.hp1
NA18994.hp1
intron_variant MODIFIER c.2164+270A>G
c.2164+270A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049819
chr10:104049913 T
T
C
C
45 a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
others(42): Show 
a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0007c0035t0002g0285
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0017c0046t0003g0116
a0029c0033t0001g0242
48 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(45): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.2164+176A>G
c.2164+176A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049913
chr10:104049969 A
A
G
G
29 a0001c0001t0001g0051
a0001c0001t0001g0119
a0001c0001t0001g0121
others(26): Show 
a0001c0001t0001g0051
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0141
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0006t0002g0123
a0001c0057t0001g0122
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0058t0001g0126
a0012c0025t0001g0106
a0012c0025t0001g0107
a0020c0054t0001g0105
32 HG00140.hp1
HG00609.hp2
HG00642.hp2
others(29): Show 
HG00140.hp1
HG00609.hp2
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp2
HG01167.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp2
HG02165.hp2
HG02738.hp1
HG02738.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18978.hp2
NA18979.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19057.hp1
NA19079.hp1
intron_variant MODIFIER c.2164+120T>C
c.2164+120T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049969
chr10:104049981 G
G
T
T
1 a0011c0016t0002g0017
a0011c0016t0002g0017
2 NA18954.hp1
NA19009.hp2
NA18954.hp1
NA19009.hp2
intron_variant MODIFIER c.2164+108C>A
c.2164+108C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049981
chr10:104049996 C
C
T
T
1 a0027c0043t0002g0273
a0027c0043t0002g0273
1 NA21309.hp2
NA21309.hp2
intron_variant MODIFIER c.2164+93G>A
c.2164+93G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104049996
chr10:104050051 C
C
T
T
2 a0024c0039t0003g0255
a0025c0040t0002g0287
a0024c0039t0003g0255
a0025c0040t0002g0287
2 HG03195.hp1
HG03471.hp2
HG03195.hp1
HG03471.hp2
intron_variant MODIFIER c.2164+38G>A
c.2164+38G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 28/55 chr10 104050051
chr10:104050369 C
C
T
T
1 a0001c0024t0006g0096
a0001c0024t0006g0096
1 HG02280.hp1
HG02280.hp1
intron_variant MODIFIER c.2129-245G>A
c.2129-245G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 27/55 chr10 104050369
chr10:104050413 G
G
A
A
2 a0010c0028t0001g0254
a0010c0029t0004g0253
a0010c0028t0001g0254
a0010c0029t0004g0253
2 HG02896.hp1
HG03041.hp1
HG02896.hp1
HG03041.hp1
intron_variant MODIFIER c.2128+208C>T
c.2128+208C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 27/55 chr10 104050413
chr10:104050484 CCTAT
CCTAT
C
C
3 a0012c0025t0001g0106
a0012c0025t0001g0107
a0020c0054t0001g0105
a0012c0025t0001g0106
a0012c0025t0001g0107
a0020c0054t0001g0105
3 NA18945.hp2
NA18978.hp2
NA19079.hp1
NA18945.hp2
NA18978.hp2
NA19079.hp1
intron_variant MODIFIER c.2128+133_2128+136d
others(6): Show 
c.2128+133_2128+136delATAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 27/55 chr10 104050484
chr10:104050670 G
G
A
A
1 a0008c0017t0001g0227
a0008c0017t0001g0227
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.2093-14C>T
c.2093-14C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 26/55 chr10 104050670
chr10:104050843 C
C
T
T
1 a0001c0001t0001g0101
a0001c0001t0001g0101
1 HG02818.hp1
HG02818.hp1
splice_region_variant&intron_variant LOW c.2092+5G>A
c.2092+5G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 26/55 chr10 104050843
chr10:104050925 A
A
G
G
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.2039-24T>C
c.2039-24T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104050925
chr10:104050950 G
G
A
A
2 a0024c0039t0003g0255
a0025c0040t0002g0287
a0024c0039t0003g0255
a0025c0040t0002g0287
2 HG03195.hp1
HG03471.hp2
HG03195.hp1
HG03471.hp2
intron_variant MODIFIER c.2039-49C>T
c.2039-49C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104050950
chr10:104051023 A
A
G
G
4 a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
others(1): Show 
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0008t0003g0027
4 HG01243.hp2
HG02145.hp1
HG03139.hp1
others(1): Show 
HG01243.hp2
HG02145.hp1
HG03139.hp1
NA19030.hp2
intron_variant MODIFIER c.2039-122T>C
c.2039-122T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104051023
chr10:104051121 C
C
A
A
169 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(166): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0005c0015t0002g0257
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0034t0001g0264
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
184 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(181): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2039-220G>T
c.2039-220G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104051121
chr10:104051158 C
C
G
G
1 a0006c0019t0001g0300
a0006c0019t0001g0300
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.2039-257G>C
c.2039-257G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104051158
chr10:104051257 C
C
A
A
1 a0023c0047t0001g0156
a0023c0047t0001g0156
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.2038+224G>T
c.2038+224G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104051257
chr10:104051460 T
T
A
A
26 a0001c0024t0001g0097
a0001c0024t0006g0096
a0004c0009t0002g0289
others(23): Show 
a0001c0024t0001g0097
a0001c0024t0006g0096
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
31 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(28): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01891.hp1
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02886.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19063.hp2
NA19064.hp1
NA20752.hp2
intron_variant MODIFIER c.2038+21A>T
c.2038+21A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 25/55 chr10 104051460
chr10:104051607 G
G
A
A
1 a0006c0008t0009g0298
a0006c0008t0009g0298
1 HG02109.hp1
HG02109.hp1
intron_variant MODIFIER c.2003-91C>T
c.2003-91C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104051607
chr10:104051835 G
G
A
A
1 a0002c0002t0003g0274
a0002c0002t0003g0274
1 NA20905.hp2
NA20905.hp2
intron_variant MODIFIER c.2003-319C>T
c.2003-319C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104051835
chr10:104051910 G
G
A
A
169 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(166): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0005c0015t0002g0257
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0034t0001g0264
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
184 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(181): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.2002+245C>T
c.2002+245C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104051910
chr10:104051913 C
C
A
A
1 a0002c0010t0001g0269
a0002c0010t0001g0269
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.2002+242G>T
c.2002+242G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104051913
chr10:104051933 A
A
C
C
2 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0291
a0002c0002t0002g0292
2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
intron_variant MODIFIER c.2002+222T>G
c.2002+222T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104051933
chr10:104052076 G
G
A
A
1 a0001c0001t0001g0141
a0001c0001t0001g0141
1 HG00642.hp2
HG00642.hp2
intron_variant MODIFIER c.2002+79C>T
c.2002+79C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 24/55 chr10 104052076
chr10:104052381 C
C
A
A
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.1940-164G>T
c.1940-164G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 23/55 chr10 104052381
chr10:104052430 A
A
G
G
2 a0024c0039t0003g0255
a0025c0040t0002g0287
a0024c0039t0003g0255
a0025c0040t0002g0287
2 HG03195.hp1
HG03471.hp2
HG03195.hp1
HG03471.hp2
intron_variant MODIFIER c.1940-213T>C
c.1940-213T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 23/55 chr10 104052430
chr10:104052501 A
A
G
G
7 a0004c0004t0002g0241
a0004c0004t0003g0238
a0004c0004t0003g0239
others(4): Show 
a0004c0004t0002g0241
a0004c0004t0003g0238
a0004c0004t0003g0239
a0005c0015t0003g0197
a0005c0015t0003g0198
a0017c0046t0003g0116
a0029c0033t0001g0242
7 HG00738.hp2
HG02083.hp2
HG03491.hp2
others(4): Show 
HG00738.hp2
HG02083.hp2
HG03491.hp2
HG04228.hp2
NA18967.hp2
NA19004.hp2
NA19091.hp1
intron_variant MODIFIER c.1940-284T>C
c.1940-284T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 23/55 chr10 104052501
chr10:104052856 C
C
T
T
1 a0002c0002t0002g0272
a0002c0002t0002g0272
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.1939+175G>A
c.1939+175G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 23/55 chr10 104052856
chr10:104052932 G
G
C
C
43 a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
others(40): Show 
a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0017c0046t0003g0116
a0029c0033t0001g0242
46 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(43): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.1939+99C>G
c.1939+99C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 23/55 chr10 104052932
chr10:104053217 G
G
A
A
1 a0002c0007t0001g0259
a0002c0007t0001g0259
1 NA19043.hp1
NA19043.hp1
intron_variant MODIFIER c.1835-82C>T
c.1835-82C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 22/55 chr10 104053217
chr10:104053243 C
C
T
T
43 a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
others(40): Show 
a0002c0007t0003g0177
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0017c0046t0003g0116
a0029c0033t0001g0242
46 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(43): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.1835-108G>A
c.1835-108G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 22/55 chr10 104053243
chr10:104053735 C
C
T
T
1 a0022c0048t0001g0053
a0022c0048t0001g0053
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.1834+185G>A
c.1834+185G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 22/55 chr10 104053735
chr10:104054271 T
T
C
C
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1745-153A>G
c.1745-153A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054271
chr10:104054308 G
G
A
A
1 a0002c0002t0002g0272
a0002c0002t0002g0272
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.1745-190C>T
c.1745-190C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054308
chr10:104054313 G
G
C
C
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0028c0045t0001g0029
5 HG01175.hp2
HG01884.hp1
HG02896.hp1
others(2): Show 
HG01175.hp2
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.1745-195C>G
c.1745-195C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054313
chr10:104054381 C
C
T
T
155 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(152): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0004g0271
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1745-263G>A
c.1745-263G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054381
chr10:104054493 C
C
T
T
3 a0001c0001t0001g0141
a0003c0003t0001g0014
a0003c0003t0001g0128
a0001c0001t0001g0141
a0003c0003t0001g0014
a0003c0003t0001g0128
4 HG00642.hp2
HG00741.hp1
HG01081.hp2
others(1): Show 
HG00642.hp2
HG00741.hp1
HG01081.hp2
HG03453.hp1
intron_variant MODIFIER c.1745-375G>A
c.1745-375G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054493
chr10:104054498 G
G
T
T
1 a0007c0034t0001g0264
a0007c0034t0001g0264
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.1745-380C>A
c.1745-380C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054498
chr10:104054500 G
G
C
C
1 a0001c0001t0001g0143
a0001c0001t0001g0143
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.1745-382C>G
c.1745-382C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054500
chr10:104054596 G
G
A
A
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.1744+385C>T
c.1744+385C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054596
chr10:104054701 A
A
C
C
149 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(146): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1744+280T>G
c.1744+280T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054701
chr10:104054878 A
A
G
G
1 a0002c0023t0001g0286
a0002c0023t0001g0286
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.1744+103T>C
c.1744+103T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 20/55 chr10 104054878
chr10:104055068 C
C
A
A
149 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(146): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1718-61G>T
c.1718-61G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 19/55 chr10 104055068
chr10:104055179 C
C
T
T
159 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(156): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0004g0271
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0203
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
174 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(171): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1718-172G>A
c.1718-172G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 19/55 chr10 104055179
chr10:104055358 A
A
G
G
29 a0001c0001t0001g0051
a0001c0001t0001g0119
a0001c0001t0001g0121
others(26): Show 
a0001c0001t0001g0051
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0141
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0006t0002g0123
a0001c0057t0001g0122
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0058t0001g0126
a0012c0025t0001g0106
a0012c0025t0001g0107
a0020c0054t0001g0105
32 HG00140.hp1
HG00609.hp2
HG00642.hp2
others(29): Show 
HG00140.hp1
HG00609.hp2
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp2
HG01167.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp2
HG02165.hp2
HG02738.hp1
HG02738.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18978.hp2
NA18979.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19057.hp1
NA19079.hp1
intron_variant MODIFIER c.1717+14T>C
c.1717+14T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 19/55 chr10 104055358
chr10:104055443 G
G
GTC
GTC
18 a0001c0024t0001g0097
a0001c0024t0006g0096
a0005c0005t0001g0005
others(15): Show 
a0001c0024t0001g0097
a0001c0024t0006g0096
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0201
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0192
a0007c0011t0001g0200
a0007c0038t0001g0188
a0010c0021t0001g0251
a0010c0021t0001g0252
23 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(20): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp2
HG01884.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp1
HG03139.hp2
HG03225.hp2
HG03516.hp1
NA18939.hp2
NA18942.hp2
NA18966.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19009.hp1
NA19063.hp2
NA20752.hp2
intron_variant MODIFIER c.1688-44_1688-43dup
others(2): Show 
c.1688-44_1688-43dupGA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055443
chr10:104055444 T
T
TCA
TCA
70 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(67): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0272
a0002c0002t0004g0261
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0180
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0015t0003g0197
a0005c0015t0003g0198
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0185
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0245
a0011c0016t0002g0017
a0014c0022t0001g0210
a0014c0022t0001g0214
a0017c0046t0003g0116
a0027c0043t0002g0273
a0029c0033t0001g0242
83 HG00609.hp1
HG00738.hp2
HG00741.hp2
others(80): Show 
HG00609.hp1
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp2
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03017.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
NA18906.hp2
NA18947.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18972.hp2
NA18980.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
NA21309.hp2
intron_variant MODIFIER c.1688-45_1688-44dup
others(2): Show 
c.1688-45_1688-44dupTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCACA
TCACA
7 a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0005g0275
others(4): Show 
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0004c0004t0003g0215
a0011c0016t0002g0170
7 HG00738.hp1
HG02976.hp2
HG03098.hp1
others(4): Show 
HG00738.hp1
HG02976.hp2
HG03098.hp1
NA18747.hp2
NA18948.hp2
NA18991.hp2
NA19056.hp2
intron_variant MODIFIER c.1688-47_1688-44dup
others(4): Show 
c.1688-47_1688-44dupTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCACACA
TCACACA
5 a0002c0002t0003g0274
a0002c0002t0005g0279
a0002c0031t0006g0283
others(2): Show 
a0002c0002t0003g0274
a0002c0002t0005g0279
a0002c0031t0006g0283
a0004c0004t0002g0241
a0004c0009t0001g0233
5 HG00544.hp2
HG02451.hp1
HG02965.hp2
others(2): Show 
HG00544.hp2
HG02451.hp1
HG02965.hp2
HG04228.hp2
NA20905.hp2
intron_variant MODIFIER c.1688-49_1688-44dup
others(6): Show 
c.1688-49_1688-44dupTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCACACAC
others(3): Show 
TCACACACACA
1 a0002c0002t0005g0280
a0002c0002t0005g0280
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.1688-53_1688-44dup
others(10): Show 
c.1688-53_1688-44dupTGTGTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCACACAC
others(5): Show 
TCACACACACACA
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.1688-55_1688-44dup
others(12): Show 
c.1688-55_1688-44dupTGTGTGTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCA
TCTCA
9 a0005c0005t0001g0194
a0007c0011t0001g0189
a0007c0011t0001g0190
others(6): Show 
a0005c0005t0001g0194
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0193
a0010c0028t0001g0254
a0010c0029t0004g0253
a0024c0039t0003g0255
a0030c0037t0002g0284
9 HG01891.hp1
HG02723.hp2
HG02896.hp1
others(6): Show 
HG01891.hp1
HG02723.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03195.hp1
HG03579.hp1
NA19043.hp2
NA19064.hp1
intron_variant MODIFIER c.1688-44_1688-43ins
others(4): Show 
c.1688-44_1688-43insTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACA
TCTCACA
11 a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0088
others(8): Show 
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0049t0001g0061
a0003c0003t0001g0117
a0003c0003t0001g0152
a0005c0015t0002g0256
a0007c0034t0001g0264
a0009c0012t0001g0288
a0019c0056t0001g0063
11 HG01255.hp1
HG02056.hp1
HG02155.hp1
others(8): Show 
HG01255.hp1
HG02056.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02647.hp1
HG03490.hp1
NA18747.hp1
NA18997.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.1688-44_1688-43ins
others(6): Show 
c.1688-44_1688-43insTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(1): Show 
TCTCACACA
70 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(67): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0072
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0060t0001g0142
a0002c0002t0004g0271
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0115
a0003c0003t0001g0118
a0003c0003t0001g0131
a0005c0005t0001g0202
a0005c0015t0002g0257
a0009c0012t0001g0004
a0009c0012t0001g0146
a0009c0012t0001g0147
a0018c0055t0001g0195
a0021c0051t0003g0069
a0025c0040t0002g0287
80 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(77): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00639.hp2
HG00642.hp1
HG01071.hp2
HG01074.hp1
HG01109.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG02040.hp1
HG02132.hp1
HG02132.hp2
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19003.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19066.hp1
NA19082.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1688-44_1688-43ins
others(8): Show 
c.1688-44_1688-43insTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(3): Show 
TCTCACACACA
37 a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0051
others(34): Show 
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0003g0038
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0057t0001g0122
a0003c0003t0001g0013
a0003c0003t0001g0015
a0003c0003t0001g0050
a0003c0003t0001g0081
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0130
a0003c0003t0001g0154
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0058t0001g0126
a0005c0005t0001g0203
a0009c0012t0001g0032
a0012c0025t0001g0106
a0016c0059t0001g0114
a0020c0054t0001g0105
40 HG00140.hp1
HG00544.hp1
HG00609.hp2
others(37): Show 
HG00140.hp1
HG00544.hp1
HG00609.hp2
HG00639.hp1
HG01071.hp1
HG01167.hp1
HG01168.hp2
HG01515.hp2
HG01884.hp2
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02738.hp1
HG02970.hp2
HG03239.hp2
HG03831.hp2
HG03927.hp2
HG04204.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18965.hp1
NA18978.hp2
NA18979.hp2
NA19004.hp1
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19063.hp1
NA19065.hp2
NA19085.hp1
NA19085.hp2
NA21309.hp1
intron_variant MODIFIER c.1688-44_1688-43ins
others(10): Show 
c.1688-44_1688-43insTGTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(5): Show 
TCTCACACACACA
19 a0001c0001t0001g0016
a0001c0001t0001g0052
a0001c0001t0001g0083
others(16): Show 
a0001c0001t0001g0016
a0001c0001t0001g0052
a0001c0001t0001g0083
a0001c0001t0001g0101
a0001c0001t0001g0104
a0001c0001t0001g0113
a0001c0001t0001g0132
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0002g0057
a0001c0006t0004g0095
a0003c0003t0001g0084
a0003c0003t0001g0127
a0003c0003t0001g0145
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0009c0012t0001g0148
20 HG00558.hp1
HG00621.hp1
HG01192.hp2
others(17): Show 
HG00558.hp1
HG00621.hp1
HG01192.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02015.hp2
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp2
HG02818.hp1
NA18939.hp1
NA18989.hp2
NA18999.hp2
NA19010.hp2
NA19076.hp2
NA19077.hp2
intron_variant MODIFIER c.1688-44_1688-43ins
others(12): Show 
c.1688-44_1688-43insTGTGTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(7): Show 
TCTCACACACACACA
11 a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
others(8): Show 
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0006t0002g0111
a0003c0003t0001g0014
a0003c0003t0001g0128
a0003c0003t0001g0155
a0005c0005t0001g0240
a0007c0035t0002g0285
a0012c0025t0001g0107
a0023c0047t0001g0156
12 HG00741.hp1
HG01081.hp2
HG01993.hp2
others(9): Show 
HG00741.hp1
HG01081.hp2
HG01993.hp2
HG02257.hp1
HG02572.hp1
HG02809.hp1
HG02922.hp1
HG03453.hp1
HG03688.hp1
HG03942.hp1
NA19002.hp1
NA19079.hp1
intron_variant MODIFIER c.1688-44_1688-43ins
others(14): Show 
c.1688-44_1688-43insTGTGTGTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(9): Show 
TCTCACACACACACACA
2 a0001c0001t0001g0141
a0001c0006t0002g0092
a0001c0001t0001g0141
a0001c0006t0002g0092
2 HG00642.hp2
HG03098.hp2
HG00642.hp2
HG03098.hp2
intron_variant MODIFIER c.1688-44_1688-43ins
others(16): Show 
c.1688-44_1688-43insTGTGTGTGTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCACAC
others(11): Show 
TCTCACACACACACACACA
1 a0022c0048t0001g0053
a0022c0048t0001g0053
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.1688-44_1688-43ins
others(18): Show 
c.1688-44_1688-43insTGTGTGTGTGTGTGTGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 T
T
TCTCTCAC
others(5): Show 
TCTCTCACACACA
3 a0001c0026t0004g0149
a0003c0020t0001g0043
a0003c0020t0001g0150
a0001c0026t0004g0149
a0003c0020t0001g0043
a0003c0020t0001g0150
3 HG01891.hp2
HG02976.hp1
HG03041.hp2
HG01891.hp2
HG02976.hp1
HG03041.hp2
intron_variant MODIFIER c.1688-44_1688-43ins
others(12): Show 
c.1688-44_1688-43insTGTGTGTGAGAG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 TCACA
TCACA
T
T
13 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(10): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
13 HG02109.hp1
HG02109.hp2
HG02145.hp2
others(10): Show 
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.1688-47_1688-44del
others(4): Show 
c.1688-47_1688-44delTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055444 TCACACA
TCACACA
T
T
4 a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0008t0003g0027
others(1): Show 
a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0008t0003g0027
a0028c0045t0001g0029
4 HG01175.hp2
HG01243.hp2
HG02145.hp1
others(1): Show 
HG01175.hp2
HG01243.hp2
HG02145.hp1
NA19030.hp2
intron_variant MODIFIER c.1688-49_1688-44del
others(6): Show 
c.1688-49_1688-44delTGTGTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055444
chr10:104055446 A
A
T
T
3 a0001c0001t0001g0164
a0001c0024t0006g0096
a0005c0005t0001g0199
a0001c0001t0001g0164
a0001c0024t0006g0096
a0005c0005t0001g0199
3 HG01081.hp1
HG02135.hp2
HG02280.hp1
HG01081.hp1
HG02135.hp2
HG02280.hp1
intron_variant MODIFIER c.1688-45T>A
c.1688-45T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055446
chr10:104055483 A
A
C
C
184 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0004g0271
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0030c0037t0002g0284
204 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(201): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1688-82T>G
c.1688-82T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055483
chr10:104055566 A
A
G
G
201 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(198): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0030c0037t0002g0284
221 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(218): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1688-165T>C
c.1688-165T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055566
chr10:104055573 A
A
T
T
8 a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
others(5): Show 
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0007t0001g0276
8 HG00544.hp2
HG02155.hp2
HG03017.hp2
others(5): Show 
HG00544.hp2
HG02155.hp2
HG03017.hp2
NA18747.hp2
NA18948.hp2
NA18999.hp1
NA19056.hp2
NA20905.hp2
intron_variant MODIFIER c.1688-172T>A
c.1688-172T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055573
chr10:104055600 G
G
T
T
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.1687+182C>A
c.1687+182C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055600
chr10:104055696 G
G
A
A
184 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0004g0271
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0030c0037t0002g0284
204 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(201): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1687+86C>T
c.1687+86C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055696
chr10:104055767 C
C
A
A
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.1687+15G>T
c.1687+15G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055767
chr10:104055776 T
T
C
C
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
splice_region_variant&intron_variant LOW c.1687+6A>G
c.1687+6A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 18/55 chr10 104055776
chr10:104056235 G
G
A
A
4 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(1): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
4 HG01884.hp1
HG02896.hp1
HG03041.hp1
others(1): Show 
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.1466-232C>T
c.1466-232C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056235
chr10:104056308 C
C
T
T
148 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0005t0001g0240
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1466-305G>A
c.1466-305G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056308
chr10:104056310 C
C
T
T
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.1466-307G>A
c.1466-307G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056310
chr10:104056375 A
A
G
G
38 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(35): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0178
a0006c0019t0001g0185
a0011c0016t0002g0017
a0011c0016t0002g0170
a0026c0041t0001g0301
a0027c0043t0002g0273
46 HG00423.hp2
HG00544.hp2
HG00621.hp2
others(43): Show 
HG00423.hp2
HG00544.hp2
HG00621.hp2
HG01358.hp2
HG02155.hp2
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03225.hp1
HG03540.hp1
HG03688.hp2
NA18747.hp2
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.1466-372T>C
c.1466-372T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056375
chr10:104056379 G
G
A
A
38 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(35): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0178
a0006c0019t0001g0185
a0011c0016t0002g0017
a0011c0016t0002g0170
a0026c0041t0001g0301
a0027c0043t0002g0273
46 HG00423.hp2
HG00544.hp2
HG00621.hp2
others(43): Show 
HG00423.hp2
HG00544.hp2
HG00621.hp2
HG01358.hp2
HG02155.hp2
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03225.hp1
HG03540.hp1
HG03688.hp2
NA18747.hp2
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.1466-376C>T
c.1466-376C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056379
chr10:104056454 C
C
T
T
6 a0001c0006t0004g0094
a0001c0006t0004g0095
a0010c0021t0001g0251
others(3): Show 
a0001c0006t0004g0094
a0001c0006t0004g0095
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
6 HG01884.hp1
HG02559.hp2
HG02896.hp1
others(3): Show 
HG01884.hp1
HG02559.hp2
HG02896.hp1
HG02970.hp2
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.1466-451G>A
c.1466-451G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056454
chr10:104056516 A
A
C
C
31 a0001c0024t0001g0097
a0001c0024t0006g0096
a0004c0009t0002g0289
others(28): Show 
a0001c0024t0001g0097
a0001c0024t0006g0096
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0030c0037t0002g0284
36 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(33): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01891.hp1
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02647.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02886.hp1
HG02922.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA18939.hp2
NA18942.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
NA19064.hp1
NA19240.hp1
NA20752.hp2
intron_variant MODIFIER c.1465+459T>G
c.1465+459T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056516
chr10:104056518 G
G
C
C
1 a0001c0001t0001g0088
a0001c0001t0001g0088
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.1465+457C>G
c.1465+457C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056518
chr10:104056560 C
C
T
T
1 a0006c0008t0009g0298
a0006c0008t0009g0298
1 HG02109.hp1
HG02109.hp1
intron_variant MODIFIER c.1465+415G>A
c.1465+415G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056560
chr10:104056573 C
C
T
T
8 a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
others(5): Show 
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
a0006c0008t0002g0258
10 HG02615.hp1
HG02622.hp2
HG02717.hp1
others(7): Show 
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02895.hp2
HG02897.hp2
HG02976.hp2
HG03098.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.1465+402G>A
c.1465+402G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056573
chr10:104056581 CA
CA
C
C
246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
269 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(266): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1465+393delT
c.1465+393delT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056581
chr10:104056592 A
A
G
G
246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
269 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(266): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1465+383T>C
c.1465+383T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056592
chr10:104056637 G
G
C
C
2 a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0024t0001g0097
a0001c0024t0006g0096
2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
intron_variant MODIFIER c.1465+338C>G
c.1465+338C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056637
chr10:104056776 A
A
T
T
1 a0003c0003t0001g0042
a0003c0003t0001g0042
1 HG02132.hp2
HG02132.hp2
intron_variant MODIFIER c.1465+199T>A
c.1465+199T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056776
chr10:104056865 C
C
T
T
4 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(1): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
4 HG01884.hp1
HG02896.hp1
HG03041.hp1
others(1): Show 
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.1465+110G>A
c.1465+110G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056865
chr10:104056927 T
T
C
C
246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
269 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(266): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1465+48A>G
c.1465+48A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 17/55 chr10 104056927
chr10:104057250 A
A
G
G
17 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(14): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
a0028c0045t0001g0029
17 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(14): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.1268-78T>C
c.1268-78T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057250
chr10:104057278 G
G
A
A
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.1268-106C>T
c.1268-106C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057278
chr10:104057285 C
C
T
T
246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
269 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(266): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1268-113G>A
c.1268-113G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057285
chr10:104057385 G
G
A
A
3 a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
3 HG02647.hp1
NA18522.hp1
NA19240.hp1
HG02647.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.1268-213C>T
c.1268-213C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057385
chr10:104057439 T
T
TAAAAGAT
others(188): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG00140.hp2
HG00140.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(197): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA
TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCC
GAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(189): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA
1 a0001c0001t0001g0093
a0001c0001t0001g0093
1 HG01358.hp1
HG01358.hp1
intron_variant MODIFIER c.1268-268_1268-267i
others(198): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGTAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA
ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC
CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC
CGAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(187): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA
10 a0001c0001t0001g0034
a0001c0001t0001g0059
a0001c0001t0001g0060
others(7): Show 
a0001c0001t0001g0034
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0053t0002g0055
a0003c0020t0001g0043
a0004c0004t0002g0222
a0004c0004t0003g0024
a0004c0032t0002g0226
a0005c0015t0003g0196
a0025c0040t0002g0287
11 HG02004.hp2
HG02040.hp2
HG02735.hp1
others(8): Show 
HG02004.hp2
HG02040.hp2
HG02735.hp1
HG02976.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03831.hp1
NA18939.hp2
NA18948.hp1
NA18961.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(196): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTGAGAC
GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT
CTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT
CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCCG
AAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(188): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA
177 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0052t0001g0033
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0200
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0029c0033t0001g0242
198 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(195): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp2
NA18951.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1268-268_1268-267i
others(197): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA
TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCC
GAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(189): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA
27 a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0089
others(24): Show 
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0113
a0001c0001t0001g0129
a0001c0001t0001g0141
a0001c0001t0001g0163
a0001c0001t0010g0133
a0001c0006t0002g0092
a0001c0006t0002g0208
a0001c0014t0001g0090
a0001c0024t0001g0097
a0003c0003t0001g0042
a0003c0003t0001g0130
a0003c0003t0002g0112
a0004c0004t0002g0241
a0004c0009t0001g0221
a0004c0009t0001g0246
a0004c0009t0002g0289
a0005c0005t0001g0021
a0005c0005t0001g0207
a0005c0005t0001g0240
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0034t0001g0264
a0008c0013t0001g0213
28 HG00280.hp2
HG00642.hp2
HG01074.hp2
others(25): Show 
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01496.hp2
HG01891.hp1
HG02132.hp2
HG02148.hp2
HG02559.hp1
HG02886.hp1
HG03098.hp2
HG03942.hp1
HG04228.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18978.hp1
NA18994.hp2
NA18998.hp1
NA19010.hp1
NA19010.hp2
NA19077.hp2
NA19240.hp1
NA20752.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(198): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA
ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC
CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC
CGAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(190): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA
3 a0005c0015t0002g0256
a0005c0015t0002g0257
a0030c0037t0002g0284
a0005c0015t0002g0256
a0005c0015t0002g0257
a0030c0037t0002g0284
3 HG02647.hp1
NA18522.hp1
NA19043.hp2
HG02647.hp1
NA18522.hp1
NA19043.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(199): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTTGA
GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC
AATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG
CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG
CCGAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(191): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA
1 a0007c0035t0002g0285
a0007c0035t0002g0285
1 HG02922.hp1
HG02922.hp1
intron_variant MODIFIER c.1268-268_1268-267i
others(200): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG
CAATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT
GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG
GCCGAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(188): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA
1 a0001c0050t0001g0098
a0001c0050t0001g0098
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(197): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA
TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCC
GAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(189): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC
AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA
1 a0003c0020t0001g0150
a0003c0020t0001g0150
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.1268-268_1268-267i
others(198): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA
ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC
CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC
CGAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057439 T
T
TAAAAGAT
others(188): Show 
TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCC
AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA
GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG
CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA
1 a0001c0001t0001g0153
a0001c0001t0001g0153
1 HG02004.hp1
HG02004.hp1
intron_variant MODIFIER c.1268-268_1268-267i
others(197): Show 
c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA
TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCC
GAAGGAGGCAATCTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057439
chr10:104057523 C
C
T
T
4 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(1): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
4 HG01884.hp1
HG02896.hp1
HG03041.hp1
others(1): Show 
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.1268-351G>A
c.1268-351G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057523
chr10:104057763 G
G
A
A
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.1267+383C>T
c.1267+383C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057763
chr10:104057848 T
T
G
G
2 a0001c0001t0001g0016
a0001c0001t0001g0163
a0001c0001t0001g0016
a0001c0001t0001g0163
3 HG02523.hp1
NA18939.hp1
NA19077.hp2
HG02523.hp1
NA18939.hp1
NA19077.hp2
intron_variant MODIFIER c.1267+298A>C
c.1267+298A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057848
chr10:104057871 A
A
G
G
1 a0004c0009t0001g0233
a0004c0009t0001g0233
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.1267+275T>C
c.1267+275T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057871
chr10:104057897 G
G
T
T
1 a0001c0001t0001g0058
a0001c0001t0001g0058
1 HG02135.hp1
HG02135.hp1
intron_variant MODIFIER c.1267+249C>A
c.1267+249C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057897
chr10:104057951 C
C
T
T
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG00140.hp2
HG00140.hp2
intron_variant MODIFIER c.1267+195G>A
c.1267+195G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104057951
chr10:104058133 G
G
A
A
43 a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
others(40): Show 
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0005c0005t0001g0240
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0017c0046t0003g0116
a0029c0033t0001g0242
46 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(43): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.1267+13C>T
c.1267+13C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 16/55 chr10 104058133
chr10:104058209 T
T
G
G
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.1223-19A>C
c.1223-19A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058209
chr10:104058357 T
T
C
C
1 a0004c0004t0002g0230
a0004c0004t0002g0230
1 HG02273.hp2
HG02273.hp2
intron_variant MODIFIER c.1223-167A>G
c.1223-167A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058357
chr10:104058554 G
G
C
C
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.1223-364C>G
c.1223-364C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058554
chr10:104058672 G
G
A
A
1 a0002c0002t0003g0274
a0002c0002t0003g0274
1 NA20905.hp2
NA20905.hp2
intron_variant MODIFIER c.1223-482C>T
c.1223-482C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058672
chr10:104058705 G
G
A
A
1 a0001c0052t0001g0033
a0001c0052t0001g0033
1 NA19011.hp2
NA19011.hp2
intron_variant MODIFIER c.1223-515C>T
c.1223-515C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058705
chr10:104058836 A
A
G
G
1 a0002c0002t0002g0292
a0002c0002t0002g0292
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.1223-646T>C
c.1223-646T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058836
chr10:104058933 CA
CA
C
C
216 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(213): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0029c0033t0001g0242
a0030c0037t0002g0284
238 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(235): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.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
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1222+704delT
c.1222+704delT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104058933
chr10:104059086 C
C
T
T
1 a0003c0003t0001g0048
a0003c0003t0001g0048
1 HG02738.hp2
HG02738.hp2
intron_variant MODIFIER c.1222+552G>A
c.1222+552G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059086
chr10:104059439 T
T
C
C
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.1222+199A>G
c.1222+199A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059439
chr10:104059440 A
A
G
G
247 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(244): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
270 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(267): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1222+198T>C
c.1222+198T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059440
chr10:104059475 G
G
A
A
1 a0008c0013t0001g0231
a0008c0013t0001g0231
1 NA18989.hp1
NA18989.hp1
intron_variant MODIFIER c.1222+163C>T
c.1222+163C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059475
chr10:104059567 T
T
A
A
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.1222+71A>T
c.1222+71A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059567
chr10:104059569 T
T
C
C
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.1222+69A>G
c.1222+69A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059569
chr10:104059570 C
C
A
A
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.1222+68G>T
c.1222+68G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059570
chr10:104059571 CGAAGACA
others(16): Show 
CGAAGACAATGAAATGAAATGTGG
C
C
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.1222+44_1222+66del
others(23): Show 
c.1222+44_1222+66delCCACATTTCATTTCATTGTCTTC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059571
chr10:104059596 C
C
T
T
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.1222+42G>A
c.1222+42G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059596
chr10:104059598 G
G
A
A
2 a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0006t0004g0094
a0001c0006t0004g0095
2 HG02559.hp2
HG02970.hp2
HG02559.hp2
HG02970.hp2
intron_variant MODIFIER c.1222+40C>T
c.1222+40C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 15/55 chr10 104059598
chr10:104059852 C
C
T
T
2 a0002c0002t0004g0271
a0024c0039t0003g0255
a0002c0002t0004g0271
a0024c0039t0003g0255
2 HG01109.hp1
HG03195.hp1
HG01109.hp1
HG03195.hp1
intron_variant MODIFIER c.1142-134G>A
c.1142-134G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/55 chr10 104059852
chr10:104059900 G
G
A
A
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1142-182C>T
c.1142-182C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/55 chr10 104059900
chr10:104060010 G
G
C
C
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.1141+109C>G
c.1141+109C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/55 chr10 104060010
chr10:104060097 A
A
C
C
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.1141+22T>G
c.1141+22T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 14/55 chr10 104060097
chr10:104060677 G
G
A
A
227 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(224): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0029c0033t0001g0242
a0030c0037t0002g0284
250 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(247): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.980-397C>T
c.980-397C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060677
chr10:104060747 T
T
G
G
247 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(244): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
270 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(267): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.980-467A>C
c.980-467A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060747
chr10:104060894 A
A
G
G
1 a0002c0002t0002g0299
a0002c0002t0002g0299
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.979+511T>C
c.979+511T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060894
chr10:104060931 A
A
G
G
1 a0001c0001t0010g0133
a0001c0001t0010g0133
1 HG01496.hp2
HG01496.hp2
intron_variant MODIFIER c.979+474T>C
c.979+474T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060931
chr10:104060955 C
C
A
A
2 a0002c0002t0004g0271
a0024c0039t0003g0255
a0002c0002t0004g0271
a0024c0039t0003g0255
2 HG01109.hp1
HG03195.hp1
HG01109.hp1
HG03195.hp1
intron_variant MODIFIER c.979+450G>T
c.979+450G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060955
chr10:104060997 A
A
G
G
1 a0001c0001t0001g0132
a0001c0001t0001g0132
1 HG00621.hp1
HG00621.hp1
intron_variant MODIFIER c.979+408T>C
c.979+408T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104060997
chr10:104061107 G
G
A
A
4 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(1): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
4 HG01884.hp1
HG02896.hp1
HG03041.hp1
others(1): Show 
HG01884.hp1
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.979+298C>T
c.979+298C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061107
chr10:104061261 C
C
T
T
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.979+144G>A
c.979+144G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061261
chr10:104061270 G
G
A
A
2 a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0024t0001g0097
a0001c0024t0006g0096
2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
intron_variant MODIFIER c.979+135C>T
c.979+135C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061270
chr10:104061293 A
A
G
G
1 a0023c0047t0001g0156
a0023c0047t0001g0156
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.979+112T>C
c.979+112T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061293
chr10:104061304 C
C
T
T
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.979+101G>A
c.979+101G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061304
chr10:104061378 A
A
C
C
21 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(18): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0008c0013t0001g0232
a0013c0027t0003g0250
a0013c0044t0003g0290
a0024c0039t0003g0255
a0028c0045t0001g0029
21 HG01109.hp1
HG01175.hp2
HG01243.hp2
others(18): Show 
HG01109.hp1
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA18966.hp2
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.979+27T>G
c.979+27T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061378
chr10:104061378 A
A
T
T
225 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(222): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0029c0033t0001g0242
a0030c0037t0002g0284
248 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(245): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.979+27T>A
c.979+27T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 13/55 chr10 104061378
chr10:104061536 A
A
G
G
226 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(223): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0029c0033t0001g0242
a0030c0037t0002g0284
249 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(246): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.911-63T>C
c.911-63T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061536
chr10:104061608 A
A
G
G
1 a0006c0008t0002g0258
a0006c0008t0002g0258
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.911-135T>C
c.911-135T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061608
chr10:104061695 C
C
T
T
1 a0009c0012t0001g0146
a0009c0012t0001g0146
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.911-222G>A
c.911-222G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061695
chr10:104061779 T
T
C
C
21 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(18): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
a0024c0039t0003g0255
a0026c0041t0001g0301
a0028c0045t0001g0029
21 HG01109.hp1
HG01175.hp2
HG01243.hp2
others(18): Show 
HG01109.hp1
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
intron_variant MODIFIER c.911-306A>G
c.911-306A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061779
chr10:104061915 G
G
A
A
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.910+343C>T
c.910+343C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061915
chr10:104061917 G
G
T
T
1 a0001c0001t0001g0164
a0001c0001t0001g0164
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.910+341C>A
c.910+341C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104061917
chr10:104062069 C
C
T
T
2 a0004c0009t0001g0246
a0008c0017t0001g0245
a0004c0009t0001g0246
a0008c0017t0001g0245
2 NA18994.hp2
NA19088.hp1
NA18994.hp2
NA19088.hp1
intron_variant MODIFIER c.910+189G>A
c.910+189G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104062069
chr10:104062078 C
C
T
T
226 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(223): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0029c0033t0001g0242
a0030c0037t0002g0284
249 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(246): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.910+180G>A
c.910+180G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104062078
chr10:104062153 G
G
C
C
1 a0028c0045t0001g0029
a0028c0045t0001g0029
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.910+105C>G
c.910+105C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104062153
chr10:104062199 T
T
C
C
1 a0001c0001t0002g0031
a0001c0001t0002g0031
1 HG01433.hp1
HG01433.hp1
intron_variant MODIFIER c.910+59A>G
c.910+59A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104062199
chr10:104062245 C
C
G
G
1 a0006c0008t0009g0298
a0006c0008t0009g0298
1 HG02109.hp1
HG02109.hp1
intron_variant MODIFIER c.910+13G>C
c.910+13G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 12/55 chr10 104062245
chr10:104062339 C
C
T
T
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.839-10G>A
c.839-10G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062339
chr10:104062479 G
G
A
A
1 a0010c0028t0001g0254
a0010c0028t0001g0254
1 HG03041.hp1
HG03041.hp1
intron_variant MODIFIER c.839-150C>T
c.839-150C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062479
chr10:104062510 A
A
C
C
21 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(18): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
a0024c0039t0003g0255
a0026c0041t0001g0301
a0028c0045t0001g0029
21 HG01109.hp1
HG01175.hp2
HG01243.hp2
others(18): Show 
HG01109.hp1
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
intron_variant MODIFIER c.839-181T>G
c.839-181T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062510
chr10:104062932 T
T
C
C
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.839-603A>G
c.839-603A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062932
chr10:104062936 G
G
A
A
2 a0002c0002t0004g0271
a0024c0039t0003g0255
a0002c0002t0004g0271
a0024c0039t0003g0255
2 HG01109.hp1
HG03195.hp1
HG01109.hp1
HG03195.hp1
intron_variant MODIFIER c.839-607C>T
c.839-607C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062936
chr10:104062999 G
G
A
A
1 a0001c0050t0001g0098
a0001c0050t0001g0098
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.839-670C>T
c.839-670C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104062999
chr10:104063060 G
G
A
A
1 a0003c0003t0001g0115
a0003c0003t0001g0115
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.838+687C>T
c.838+687C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063060
chr10:104063078 C
C
A
A
1 a0005c0005t0001g0204
a0005c0005t0001g0204
1 NA18992.hp2
NA18992.hp2
intron_variant MODIFIER c.838+669G>T
c.838+669G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063078
chr10:104063088 A
A
C
C
1 a0002c0002t0002g0176
a0002c0002t0002g0176
1 NA19087.hp2
NA19087.hp2
intron_variant MODIFIER c.838+659T>G
c.838+659T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063088
chr10:104063101 C
C
T
T
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.838+646G>A
c.838+646G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063101
chr10:104063112 T
T
C
C
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.838+635A>G
c.838+635A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063112
chr10:104063273 G
G
A
A
2 a0002c0010t0001g0028
a0006c0008t0003g0027
a0002c0010t0001g0028
a0006c0008t0003g0027
2 HG01243.hp2
HG03139.hp1
HG01243.hp2
HG03139.hp1
intron_variant MODIFIER c.838+474C>T
c.838+474C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063273
chr10:104063351 T
T
C
C
223 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(220): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0029c0033t0001g0242
a0030c0037t0002g0284
246 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(243): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.838+396A>G
c.838+396A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063351
chr10:104063385 A
A
G
G
1 a0001c0001t0001g0009
a0001c0001t0001g0009
2 HG03017.hp1
HG06807.hp2
HG03017.hp1
HG06807.hp2
intron_variant MODIFIER c.838+362T>C
c.838+362T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063385
chr10:104063454 T
T
G
G
20 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(17): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0027t0003g0250
a0013c0044t0003g0290
a0026c0041t0001g0301
a0028c0045t0001g0029
20 HG01109.hp1
HG01175.hp2
HG01243.hp2
others(17): Show 
HG01109.hp1
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
intron_variant MODIFIER c.838+293A>C
c.838+293A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063454
chr10:104063462 G
G
A
A
1 a0001c0006t0002g0099
a0001c0006t0002g0099
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.838+285C>T
c.838+285C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063462
chr10:104063533 C
C
T
T
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.838+214G>A
c.838+214G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063533
chr10:104063561 C
C
T
T
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.838+186G>A
c.838+186G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063561
chr10:104063667 C
C
T
T
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.838+80G>A
c.838+80G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 11/55 chr10 104063667
chr10:104063860 C
C
G
G
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.767-42G>C
c.767-42G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/55 chr10 104063860
chr10:104063923 T
T
G
G
1 a0002c0007t0001g0026
a0002c0007t0001g0026
2 HG02615.hp1
HG02717.hp1
HG02615.hp1
HG02717.hp1
intron_variant MODIFIER c.767-105A>C
c.767-105A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/55 chr10 104063923
chr10:104063934 T
T
A
A
1 a0005c0005t0001g0194
a0005c0005t0001g0194
1 NA19064.hp1
NA19064.hp1
intron_variant MODIFIER c.767-116A>T
c.767-116A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/55 chr10 104063934
chr10:104064134 A
A
G
G
1 a0002c0010t0001g0028
a0002c0010t0001g0028
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.766+304T>C
c.766+304T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/55 chr10 104064134
chr10:104064343 C
C
T
T
1 a0006c0008t0002g0282
a0006c0008t0002g0282
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.766+95G>A
c.766+95G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 10/55 chr10 104064343
chr10:104064849 G
G
A
A
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.608-253C>T
c.608-253C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104064849
chr10:104064880 C
C
T
T
1 a0003c0020t0001g0043
a0003c0020t0001g0043
1 HG02976.hp1
HG02976.hp1
intron_variant MODIFIER c.608-284G>A
c.608-284G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104064880
chr10:104064913 T
T
A
A
3 a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
a0005c0015t0002g0256
a0005c0015t0002g0257
a0007c0034t0001g0264
3 HG02647.hp1
NA18522.hp1
NA19240.hp1
HG02647.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.608-317A>T
c.608-317A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104064913
chr10:104064918 C
C
T
T
1 a0005c0005t0001g0194
a0005c0005t0001g0194
1 NA19064.hp1
NA19064.hp1
intron_variant MODIFIER c.608-322G>A
c.608-322G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104064918
chr10:104065055 C
C
T
T
1 a0002c0002t0003g0274
a0002c0002t0003g0274
1 NA20905.hp2
NA20905.hp2
intron_variant MODIFIER c.608-459G>A
c.608-459G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065055
chr10:104065064 C
C
T
T
1 a0004c0004t0002g0216
a0004c0004t0002g0216
1 HG01346.hp1
HG01346.hp1
intron_variant MODIFIER c.608-468G>A
c.608-468G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065064
chr10:104065090 C
C
A
A
25 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(22): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0004g0271
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0013c0044t0003g0290
a0024c0039t0003g0255
a0026c0041t0001g0301
a0028c0045t0001g0029
25 HG01109.hp1
HG01175.hp2
HG01243.hp2
others(22): Show 
HG01109.hp1
HG01175.hp2
HG01243.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
intron_variant MODIFIER c.608-494G>T
c.608-494G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065090
chr10:104065160 G
G
A
A
26 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
others(23): Show 
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0030c0037t0002g0284
31 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(28): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp2
HG01891.hp1
HG02083.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
NA19064.hp1
NA20752.hp2
intron_variant MODIFIER c.608-564C>T
c.608-564C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065160
chr10:104065558 C
C
A
A
1 a0001c0001t0001g0100
a0001c0001t0001g0100
1 HG01928.hp2
HG01928.hp2
intron_variant MODIFIER c.608-962G>T
c.608-962G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065558
chr10:104065623 A
A
G
G
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG00642.hp1
HG00642.hp1
intron_variant MODIFIER c.608-1027T>C
c.608-1027T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065623
chr10:104065687 A
A
T
T
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.608-1091T>A
c.608-1091T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065687
chr10:104065734 G
G
C
C
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.608-1138C>G
c.608-1138C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065734
chr10:104065750 C
C
G
G
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.608-1154G>C
c.608-1154G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065750
chr10:104065949 A
A
G
G
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.608-1353T>C
c.608-1353T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065949
chr10:104065978 C
C
G
G
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.608-1382G>C
c.608-1382G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104065978
chr10:104066025 A
A
G
G
1 a0002c0002t0004g0271
a0002c0002t0004g0271
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.608-1429T>C
c.608-1429T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066025
chr10:104066067 T
T
G
G
2 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0021t0001g0251
a0010c0021t0001g0252
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.608-1471A>C
c.608-1471A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066067
chr10:104066076 G
G
C
C
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG00642.hp1
HG00642.hp1
intron_variant MODIFIER c.608-1480C>G
c.608-1480C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066076
chr10:104066162 G
G
T
T
1 a0001c0001t0002g0057
a0001c0001t0002g0057
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.608-1566C>A
c.608-1566C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066162
chr10:104066207 A
A
C
C
161 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(158): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0006c0019t0001g0185
a0008c0013t0001g0183
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
177 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.608-1611T>G
c.608-1611T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066207
chr10:104066531 C
C
G
G
101 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(98): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0042
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0131
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0016c0059t0001g0114
a0018c0055t0001g0195
a0019c0056t0001g0063
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
110 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(107): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01167.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG03927.hp2
HG06807.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18978.hp1
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18998.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19082.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.608-1935G>C
c.608-1935G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066531
chr10:104066661 A
A
C
C
62 a0001c0001t0001g0225
a0002c0002t0002g0291
a0002c0002t0002g0292
others(59): Show 
a0001c0001t0001g0225
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0005c0005t0001g0240
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0020c0054t0001g0105
a0028c0045t0001g0029
a0029c0033t0001g0242
65 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(62): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03471.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18978.hp2
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19030.hp1
NA19030.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.608-2065T>G
c.608-2065T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066661
chr10:104066708 G
G
A
A
5 a0001c0001t0001g0012
a0001c0001t0001g0056
a0001c0001t0001g0103
others(2): Show 
a0001c0001t0001g0012
a0001c0001t0001g0056
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0006t0002g0102
6 HG00544.hp1
HG02015.hp2
HG02071.hp1
others(3): Show 
HG00544.hp1
HG02015.hp2
HG02071.hp1
HG02165.hp1
NA18965.hp1
NA19065.hp2
intron_variant MODIFIER c.608-2112C>T
c.608-2112C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066708
chr10:104066775 G
G
A
A
246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
269 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(266): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.608-2179C>T
c.608-2179C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066775
chr10:104066799 A
A
C
C
2 a0004c0004t0003g0224
a0008c0017t0001g0223
a0004c0004t0003g0224
a0008c0017t0001g0223
2 HG03471.hp1
NA20300.hp1
HG03471.hp1
NA20300.hp1
intron_variant MODIFIER c.608-2203T>G
c.608-2203T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066799
chr10:104066815 T
T
C
C
1 a0002c0002t0002g0272
a0002c0002t0002g0272
1 HG03017.hp2
HG03017.hp2
intron_variant MODIFIER c.608-2219A>G
c.608-2219A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066815
chr10:104066911 T
T
TGGGCGTC
others(105): Show 
TGGGCGTCTTTGATTGTGTAGTAAGGGTGGAAGGTGATTTTATCGGAATG
GGAGGTGATTCCTAGGGGGTTGTTTGATCCCGTTTCGTGCAAGAATAGGA
GGTGGAGTGCTGC
1 a0006c0008t0009g0298
a0006c0008t0009g0298
1 HG02109.hp1
HG02109.hp1
intron_variant MODIFIER c.608-2316_608-2315i
others(114): Show 
c.608-2316_608-2315insGCAGCACTCCACCTCCTATTCTTGCACG
AAACGGGATCAAACAACCCCCTAGGAATCACCTCCCATTCCGATAAAATC
ACCTTCCACCCTTACTACACAATCAAAGACGCCC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066911
chr10:104066944 G
G
C
C
1 a0002c0002t0002g0299
a0002c0002t0002g0299
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.608-2348C>G
c.608-2348C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104066944
chr10:104067334 T
T
TA
TA
40 a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0056
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0056
a0001c0001t0001g0144
a0001c0053t0002g0055
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0003g0027
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0009c0012t0001g0146
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0018c0055t0001g0195
a0030c0037t0002g0284
46 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(43): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp2
HG02165.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18946.hp2
NA18960.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
NA19064.hp2
NA19240.hp1
NA20752.hp2
intron_variant MODIFIER c.608-2739dupT
c.608-2739dupT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 T
T
TAA
TAA
93 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0143
a0001c0001t0001g0151
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0042
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0145
a0003c0003t0001g0158
a0003c0003t0002g0079
a0003c0020t0001g0043
a0003c0020t0001g0150
a0005c0005t0001g0194
a0005c0015t0002g0256
a0005c0015t0002g0257
a0019c0056t0001g0063
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0026c0041t0001g0301
101 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(98): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG01071.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03490.hp2
HG03688.hp1
HG03704.hp2
HG03927.hp2
HG06807.hp2
NA18522.hp1
NA18945.hp1
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18978.hp1
NA18980.hp2
NA18989.hp2
NA18991.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19082.hp2
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.608-2740_608-2739d
others(4): Show 
c.608-2740_608-2739dupTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 T
T
TAAA
TAAA
57 a0001c0001t0001g0016
a0001c0001t0001g0108
a0001c0001t0001g0110
others(54): Show 
a0001c0001t0001g0016
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0141
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0003g0044
a0001c0014t0001g0109
a0001c0014t0001g0136
a0001c0057t0001g0122
a0002c0023t0001g0286
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0047
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0112
a0003c0058t0001g0126
a0004c0004t0002g0241
a0004c0004t0003g0215
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0009t0001g0233
a0005c0005t0001g0240
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0147
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0017c0046t0003g0116
a0020c0054t0001g0105
a0029c0033t0001g0242
63 HG00140.hp1
HG00642.hp2
HG00738.hp1
others(60): Show 
HG00140.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp2
HG02083.hp2
HG02145.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02738.hp1
HG02965.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18939.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18956.hp2
NA18957.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18997.hp2
NA18998.hp2
NA19010.hp1
NA19010.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA21309.hp1
intron_variant MODIFIER c.608-2741_608-2739d
others(5): Show 
c.608-2741_608-2739dupTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 T
T
TAAAA
TAAAA
6 a0001c0001t0001g0132
a0001c0006t0002g0139
a0003c0003t0001g0048
others(3): Show 
a0001c0001t0001g0132
a0001c0006t0002g0139
a0003c0003t0001g0048
a0003c0003t0001g0131
a0009c0012t0001g0148
a0025c0040t0002g0287
6 HG00621.hp1
HG01884.hp2
HG02257.hp2
others(3): Show 
HG00621.hp1
HG01884.hp2
HG02257.hp2
HG02738.hp2
HG03471.hp2
NA18994.hp1
intron_variant MODIFIER c.608-2742_608-2739d
others(6): Show 
c.608-2742_608-2739dupTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 TA
TA
T
T
34 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(31): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0004g0271
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0007t0001g0025
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0178
a0008c0013t0001g0183
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
43 HG00544.hp2
HG00621.hp2
HG01109.hp1
others(40): Show 
HG00544.hp2
HG00621.hp2
HG01109.hp1
HG01358.hp2
HG02148.hp1
HG02155.hp2
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG03017.hp2
HG03225.hp1
HG03540.hp1
HG03688.hp2
NA18747.hp2
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
NA21309.hp2
intron_variant MODIFIER c.608-2739delT
c.608-2739delT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 TAA
TAA
T
T
6 a0002c0002t0002g0171
a0002c0002t0002g0291
a0002c0002t0003g0274
others(3): Show 
a0002c0002t0002g0171
a0002c0002t0002g0291
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0008g0209
a0006c0019t0001g0185
6 HG02897.hp1
HG02965.hp1
NA18980.hp1
others(3): Show 
HG02897.hp1
HG02965.hp1
NA18980.hp1
NA19056.hp2
NA19060.hp2
NA20905.hp2
intron_variant MODIFIER c.608-2740_608-2739d
others(4): Show 
c.608-2740_608-2739delTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067334 TAAAA
TAAAA
T
T
32 a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
others(29): Show 
a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0015c0030t0003g0237
35 HG00609.hp1
HG00741.hp2
HG01074.hp1
others(32): Show 
HG00609.hp1
HG00741.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02071.hp2
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03471.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
NA18949.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA20300.hp1
intron_variant MODIFIER c.608-2742_608-2739d
others(6): Show 
c.608-2742_608-2739delTTTT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067334
chr10:104067346 A
A
T
T
1 a0027c0043t0002g0273
a0027c0043t0002g0273
1 NA21309.hp2
NA21309.hp2
intron_variant MODIFIER c.608-2750T>A
c.608-2750T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067346
chr10:104067557 A
A
G
G
10 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(7): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
10 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(7): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.607+2869T>C
c.607+2869T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067557
chr10:104067885 G
G
A
A
1 a0029c0033t0001g0242
a0029c0033t0001g0242
1 HG00738.hp2
HG00738.hp2
intron_variant MODIFIER c.607+2541C>T
c.607+2541C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067885
chr10:104067896 G
G
A
A
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.607+2530C>T
c.607+2530C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067896
chr10:104067921 C
C
T
T
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG03490.hp2
HG03490.hp2
intron_variant MODIFIER c.607+2505G>A
c.607+2505G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067921
chr10:104067977 A
A
G
G
1 a0004c0004t0002g0222
a0004c0004t0002g0222
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.607+2449T>C
c.607+2449T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104067977
chr10:104068158 C
C
T
T
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.607+2268G>A
c.607+2268G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068158
chr10:104068291 C
C
CTGTT
CTGTT
283 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(280): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0010t0001g0028
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
314 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(311): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.607+2134_607+2135i
others(6): Show 
c.607+2134_607+2135insAACA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068291
chr10:104068325 C
C
G
G
2 a0010c0028t0001g0254
a0010c0029t0004g0253
a0010c0028t0001g0254
a0010c0029t0004g0253
2 HG02896.hp1
HG03041.hp1
HG02896.hp1
HG03041.hp1
intron_variant MODIFIER c.607+2101G>C
c.607+2101G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068325
chr10:104068534 C
C
G
G
1 a0002c0023t0004g0030
a0002c0023t0004g0030
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.607+1892G>C
c.607+1892G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068534
chr10:104068587 G
G
C
C
1 a0002c0018t0001g0167
a0002c0018t0001g0167
1 NA19012.hp1
NA19012.hp1
intron_variant MODIFIER c.607+1839C>G
c.607+1839C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068587
chr10:104068623 A
A
G
G
2 a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0002g0256
a0005c0015t0002g0257
2 HG02647.hp1
NA18522.hp1
HG02647.hp1
NA18522.hp1
intron_variant MODIFIER c.607+1803T>C
c.607+1803T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068623
chr10:104068723 C
C
A
A
243 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(240): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
266 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(263): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.607+1703G>T
c.607+1703G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068723
chr10:104068729 T
T
C
C
1 a0001c0001t0010g0133
a0001c0001t0010g0133
1 HG01496.hp2
HG01496.hp2
intron_variant MODIFIER c.607+1697A>G
c.607+1697A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068729
chr10:104068782 T
T
C
C
1 a0002c0010t0001g0270
a0002c0010t0001g0270
1 HG02572.hp2
HG02572.hp2
intron_variant MODIFIER c.607+1644A>G
c.607+1644A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068782
chr10:104068853 A
A
G
G
1 a0022c0048t0001g0053
a0022c0048t0001g0053
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.607+1573T>C
c.607+1573T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068853
chr10:104068900 G
G
A
A
148 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0017c0046t0003g0116
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
163 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.607+1526C>T
c.607+1526C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068900
chr10:104068910 TG
TG
T
T
15 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(12): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0028c0045t0001g0029
15 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(12): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.607+1515delC
c.607+1515delC
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068910
chr10:104068922 G
G
C
C
1 a0006c0019t0001g0300
a0006c0019t0001g0300
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.607+1504C>G
c.607+1504C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104068922
chr10:104069103 A
A
G
G
15 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(12): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0028c0045t0001g0029
15 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(12): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.607+1323T>C
c.607+1323T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069103
chr10:104069128 C
C
G
G
1 a0030c0037t0002g0284
a0030c0037t0002g0284
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.607+1298G>C
c.607+1298G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069128
chr10:104069206 A
A
G
G
8 a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
others(5): Show 
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0007g0218
a0004c0009t0001g0217
a0004c0009t0001g0221
9 HG00741.hp2
HG01175.hp1
HG01192.hp1
others(6): Show 
HG00741.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG02809.hp2
HG02818.hp2
HG03942.hp2
intron_variant MODIFIER c.607+1220T>C
c.607+1220T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069206
chr10:104069239 C
C
T
T
7 a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
others(4): Show 
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
8 HG01891.hp1
HG02280.hp2
HG02559.hp1
others(5): Show 
HG01891.hp1
HG02280.hp2
HG02559.hp1
HG02723.hp2
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
intron_variant MODIFIER c.607+1187G>A
c.607+1187G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069239
chr10:104069267 A
A
G
G
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.607+1159T>C
c.607+1159T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069267
chr10:104069347 G
G
A
A
7 a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
others(4): Show 
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
8 HG01891.hp1
HG02280.hp2
HG02559.hp1
others(5): Show 
HG01891.hp1
HG02280.hp2
HG02559.hp1
HG02723.hp2
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
intron_variant MODIFIER c.607+1079C>T
c.607+1079C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069347
chr10:104069442 C
C
G
G
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.607+984G>C
c.607+984G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069442
chr10:104069520 G
G
A
A
10 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(7): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
10 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(7): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.607+906C>T
c.607+906C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069520
chr10:104069617 A
A
G
G
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.607+809T>C
c.607+809T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069617
chr10:104069734 C
C
A
A
42 a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
others(39): Show 
a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0005c0005t0001g0240
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0029c0033t0001g0242
45 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(42): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.607+692G>T
c.607+692G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069734
chr10:104069734 C
C
T
T
3 a0010c0021t0001g0251
a0010c0021t0001g0252
a0013c0027t0003g0250
a0010c0021t0001g0251
a0010c0021t0001g0252
a0013c0027t0003g0250
3 HG01884.hp1
HG02109.hp2
HG03516.hp1
HG01884.hp1
HG02109.hp2
HG03516.hp1
intron_variant MODIFIER c.607+692G>A
c.607+692G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069734
chr10:104069865 C
C
T
T
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 NA19076.hp2
NA19076.hp2
intron_variant MODIFIER c.607+561G>A
c.607+561G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104069865
chr10:104070188 T
T
C
C
293 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0002t0003g0274
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0002t0004g0271
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0002t0008g0209
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0010t0001g0028
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0003
a0006c0008t0002g0258
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0178
a0006c0019t0001g0185
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0183
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0011c0016t0002g0017
a0011c0016t0002g0170
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0027c0043t0002g0273
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
326 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(323): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.607+238A>G
c.607+238A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 9/55 chr10 104070188
chr10:104070602 T
T
A
A
3 a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
3 HG02523.hp2
NA18968.hp2
NA19087.hp1
HG02523.hp2
NA18968.hp2
NA19087.hp1
intron_variant MODIFIER c.464-33A>T
c.464-33A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104070602
chr10:104070674 G
G
A
A
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 HG00140.hp2
HG00140.hp2
intron_variant MODIFIER c.464-105C>T
c.464-105C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104070674
chr10:104070788 G
G
A
A
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.464-219C>T
c.464-219C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104070788
chr10:104070828 A
A
T
T
10 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(7): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
10 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(7): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.464-259T>A
c.464-259T>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104070828
chr10:104070965 A
A
C
C
15 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(12): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0028c0045t0001g0029
15 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(12): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.464-396T>G
c.464-396T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104070965
chr10:104071047 C
C
T
T
1 a0006c0008t0002g0282
a0006c0008t0002g0282
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.464-478G>A
c.464-478G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071047
chr10:104071252 A
A
G
G
239 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(236): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0030c0037t0002g0284
262 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(259): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.464-683T>C
c.464-683T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071252
chr10:104071258 A
A
G
G
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.464-689T>C
c.464-689T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071258
chr10:104071399 C
C
A
A
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.463+633G>T
c.463+633G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071399
chr10:104071511 G
G
A
A
1 a0003c0003t0001g0015
a0003c0003t0001g0015
2 NA18946.hp1
NA19057.hp1
NA18946.hp1
NA19057.hp1
intron_variant MODIFIER c.463+521C>T
c.463+521C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071511
chr10:104071951 C
C
T
T
1 a0002c0002t0002g0184
a0002c0002t0002g0184
1 NA18955.hp2
NA18955.hp2
intron_variant MODIFIER c.463+81G>A
c.463+81G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071951
chr10:104071956 G
G
GCA
GCA
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.463+74_463+75dupTG
c.463+74_463+75dupTG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 8/55 chr10 104071956
chr10:104072184 T
T
C
C
2 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0039
a0001c0001t0001g0040
2 NA18978.hp1
NA19088.hp2
NA18978.hp1
NA19088.hp2
intron_variant MODIFIER c.416-105A>G
c.416-105A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072184
chr10:104072224 A
A
C
C
26 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(23): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0019t0001g0178
a0006c0019t0001g0185
a0008c0013t0001g0183
a0011c0016t0002g0017
a0011c0016t0002g0170
31 HG00423.hp2
HG00621.hp2
HG02148.hp1
others(28): Show 
HG00423.hp2
HG00621.hp2
HG02148.hp1
HG03688.hp2
NA18947.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
intron_variant MODIFIER c.416-145T>G
c.416-145T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072224
chr10:104072346 G
G
A
A
1 a0004c0009t0001g0234
a0004c0009t0001g0234
1 HG03927.hp1
HG03927.hp1
intron_variant MODIFIER c.416-267C>T
c.416-267C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072346
chr10:104072367 C
C
T
T
1 a0003c0003t0001g0152
a0003c0003t0001g0152
1 NA18747.hp1
NA18747.hp1
intron_variant MODIFIER c.416-288G>A
c.416-288G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072367
chr10:104072402 C
C
A
A
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG00642.hp1
HG00642.hp1
intron_variant MODIFIER c.416-323G>T
c.416-323G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072402
chr10:104072418 G
G
C
C
237 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(234): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0030c0037t0002g0284
260 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(257): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.416-339C>G
c.416-339C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072418
chr10:104072592 C
C
T
T
29 a0001c0006t0002g0208
a0002c0023t0001g0286
a0005c0005t0001g0005
others(26): Show 
a0001c0006t0002g0208
a0002c0023t0001g0286
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0018c0055t0001g0195
a0030c0037t0002g0284
34 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(31): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp2
HG01891.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp2
NA18949.hp1
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
NA19064.hp1
NA20752.hp2
intron_variant MODIFIER c.416-513G>A
c.416-513G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072592
chr10:104072975 T
T
C
C
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.415+235A>G
c.415+235A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104072975
chr10:104073013 C
C
T
T
1 a0001c0001t0001g0051
a0001c0001t0001g0051
1 HG00609.hp2
HG00609.hp2
intron_variant MODIFIER c.415+197G>A
c.415+197G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 7/55 chr10 104073013
chr10:104073692 T
T
C
C
1 a0008c0013t0001g0183
a0008c0013t0001g0183
1 HG02148.hp1
HG02148.hp1
intron_variant MODIFIER c.380-447A>G
c.380-447A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 6/55 chr10 104073692
chr10:104073699 T
T
C
C
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.380-454A>G
c.380-454A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 6/55 chr10 104073699
chr10:104073807 G
G
A
A
1 a0002c0002t0008g0209
a0002c0002t0008g0209
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.379+377C>T
c.379+377C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 6/55 chr10 104073807
chr10:104074108 C
C
T
T
2 a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0049
a0003c0003t0001g0050
2 HG03704.hp1
HG04204.hp2
HG03704.hp1
HG04204.hp2
intron_variant MODIFIER c.379+76G>A
c.379+76G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 6/55 chr10 104074108
chr10:104074360 A
A
G
G
2 a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0047
a0003c0003t0001g0048
2 HG02738.hp2
HG03710.hp1
HG02738.hp2
HG03710.hp1
intron_variant MODIFIER c.332-129T>C
c.332-129T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104074360
chr10:104074489 G
G
A
A
1 a0008c0013t0001g0183
a0008c0013t0001g0183
1 HG02148.hp1
HG02148.hp1
intron_variant MODIFIER c.332-258C>T
c.332-258C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104074489
chr10:104074631 A
A
G
G
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.332-400T>C
c.332-400T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104074631
chr10:104074803 G
G
A
A
2 a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0235
a0004c0004t0002g0236
2 HG01928.hp1
HG02273.hp1
HG01928.hp1
HG02273.hp1
intron_variant MODIFIER c.332-572C>T
c.332-572C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104074803
chr10:104075030 G
G
C
C
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.332-799C>G
c.332-799C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075030
chr10:104075113 G
G
A
A
1 a0015c0030t0003g0237
a0015c0030t0003g0237
1 HG03710.hp2
HG03710.hp2
intron_variant MODIFIER c.332-882C>T
c.332-882C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075113
chr10:104075347 T
T
C
C
2 a0001c0006t0002g0139
a0001c0006t0003g0044
a0001c0006t0002g0139
a0001c0006t0003g0044
2 HG01884.hp2
NA21309.hp1
HG01884.hp2
NA21309.hp1
intron_variant MODIFIER c.331+954A>G
c.331+954A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075347
chr10:104075521 C
C
G
G
4 a0001c0001t0001g0007
a0001c0001t0001g0036
a0001c0001t0001g0045
others(1): Show 
a0001c0001t0001g0007
a0001c0001t0001g0036
a0001c0001t0001g0045
a0001c0001t0001g0046
5 NA18960.hp2
NA18967.hp1
NA18971.hp2
others(2): Show 
NA18960.hp2
NA18967.hp1
NA18971.hp2
NA19060.hp1
NA19085.hp2
intron_variant MODIFIER c.331+780G>C
c.331+780G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075521
chr10:104075637 G
G
A
A
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.331+664C>T
c.331+664C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075637
chr10:104075654 C
C
T
T
1 a0001c0006t0003g0044
a0001c0006t0003g0044
1 NA21309.hp1
NA21309.hp1
intron_variant MODIFIER c.331+647G>A
c.331+647G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075654
chr10:104075783 C
C
G
G
5 a0004c0009t0001g0022
a0008c0013t0001g0212
a0008c0013t0001g0213
others(2): Show 
a0004c0009t0001g0022
a0008c0013t0001g0212
a0008c0013t0001g0213
a0014c0022t0001g0210
a0014c0022t0001g0214
6 HG02056.hp2
NA18949.hp2
NA18959.hp1
others(3): Show 
HG02056.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18971.hp1
NA19002.hp2
intron_variant MODIFIER c.331+518G>C
c.331+518G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075783
chr10:104075902 C
C
T
T
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.331+399G>A
c.331+399G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075902
chr10:104075920 G
G
A
A
242 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(239): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
265 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(262): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.331+381C>T
c.331+381C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075920
chr10:104075942 T
T
C
C
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.331+359A>G
c.331+359A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104075942
chr10:104076056 C
C
T
T
1 a0013c0044t0003g0290
a0013c0044t0003g0290
1 HG03195.hp2
HG03195.hp2
intron_variant MODIFIER c.331+245G>A
c.331+245G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104076056
chr10:104076278 T
T
A
A
1 a0006c0008t0002g0281
a0006c0008t0002g0281
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.331+23A>T
c.331+23A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 5/55 chr10 104076278
chr10:104076601 A
A
G
G
1 a0001c0026t0004g0149
a0001c0026t0004g0149
1 HG03041.hp2
HG03041.hp2
intron_variant MODIFIER c.203-172T>C
c.203-172T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104076601
chr10:104076733 G
G
A
A
1 a0002c0023t0004g0030
a0002c0023t0004g0030
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.203-304C>T
c.203-304C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104076733
chr10:104076769 T
T
A
A
1 a0006c0008t0002g0282
a0006c0008t0002g0282
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.203-340A>T
c.203-340A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104076769
chr10:104076798 C
C
T
T
16 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(13): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0024c0039t0003g0255
a0028c0045t0001g0029
16 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(13): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.203-369G>A
c.203-369G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104076798
chr10:104076848 G
G
A
A
5 a0004c0004t0002g0241
a0004c0004t0003g0238
a0004c0004t0003g0239
others(2): Show 
a0004c0004t0002g0241
a0004c0004t0003g0238
a0004c0004t0003g0239
a0005c0005t0001g0240
a0029c0033t0001g0242
5 HG00738.hp2
HG02083.hp2
HG03942.hp1
others(2): Show 
HG00738.hp2
HG02083.hp2
HG03942.hp1
HG04228.hp2
NA19091.hp1
intron_variant MODIFIER c.203-419C>T
c.203-419C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104076848
chr10:104077166 G
G
T
T
1 a0003c0003t0001g0042
a0003c0003t0001g0042
1 HG02132.hp2
HG02132.hp2
intron_variant MODIFIER c.202+256C>A
c.202+256C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104077166
chr10:104077190 A
A
G
G
1 a0005c0005t0001g0005
a0005c0005t0001g0005
3 HG00558.hp2
NA19009.hp1
NA19063.hp2
HG00558.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.202+232T>C
c.202+232T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104077190
chr10:104077242 A
A
G
G
243 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(240): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
266 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(263): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.202+180T>C
c.202+180T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104077242
chr10:104077416 A
A
C
C
1 a0001c0006t0003g0041
a0001c0006t0003g0041
1 NA18991.hp1
NA18991.hp1
splice_region_variant&intron_variant LOW c.202+6T>G
c.202+6T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 4/55 chr10 104077416
chr10:104077541 A
A
G
G
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.98-15T>C
c.98-15T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077541
chr10:104077587 TC
TC
T
T
4 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0144
others(1): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0144
a0001c0001t0003g0038
4 HG02129.hp2
NA18978.hp1
NA19064.hp2
others(1): Show 
HG02129.hp2
NA18978.hp1
NA19064.hp2
NA19088.hp2
intron_variant MODIFIER c.98-62delG
c.98-62delG
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077587
chr10:104077699 T
T
TTTTTG
TTTTTG
4 a0002c0002t0002g0018
a0002c0002t0002g0168
a0002c0002t0002g0169
others(1): Show 
a0002c0002t0002g0018
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0184
5 NA18955.hp2
NA18964.hp1
NA18992.hp1
others(2): Show 
NA18955.hp2
NA18964.hp1
NA18992.hp1
NA19065.hp1
NA19066.hp2
intron_variant MODIFIER c.98-178_98-174dupCA
others(3): Show 
c.98-178_98-174dupCAAAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077699
chr10:104077699 TTTTTG
TTTTTG
T
T
19 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(16): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
a0028c0045t0001g0029
19 HG01175.hp2
HG01243.hp2
HG01884.hp1
others(16): Show 
HG01175.hp2
HG01243.hp2
HG01884.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.98-178_98-174delCA
others(3): Show 
c.98-178_98-174delCAAAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077699
chr10:104077699 TTTTTGTT
others(3): Show 
TTTTTGTTTTG
T
T
232 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(229): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0272
a0002c0002t0004g0261
a0002c0002t0004g0262
a0002c0002t0004g0263
a0002c0007t0001g0025
a0002c0007t0001g0026
a0002c0007t0001g0259
a0002c0007t0001g0260
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0002g0256
a0005c0015t0002g0257
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0258
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0034t0001g0264
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0029c0033t0001g0242
257 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.98-183_98-174delCA
others(8): Show 
c.98-183_98-174delCAAAACAAAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077699
chr10:104077699 TTTTTGTT
others(8): Show 
TTTTTGTTTTGTTTTG
T
T
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.98-188_98-174delCA
others(13): Show 
c.98-188_98-174delCAAAACAAAACAAAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077699
chr10:104077699 TTTTTGTT
others(13): Show 
TTTTTGTTTTGTTTTGTTTTG
T
T
3 a0002c0023t0001g0286
a0007c0035t0002g0285
a0030c0037t0002g0284
a0002c0023t0001g0286
a0007c0035t0002g0285
a0030c0037t0002g0284
3 HG02145.hp1
HG02922.hp1
NA19043.hp2
HG02145.hp1
HG02922.hp1
NA19043.hp2
intron_variant MODIFIER c.98-193_98-174delCA
others(18): Show 
c.98-193_98-174delCAAAACAAAACAAAACAAAA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077699
chr10:104077847 G
G
A
A
1 a0001c0001t0001g0140
a0001c0001t0001g0140
1 HG01167.hp2
HG01167.hp2
intron_variant MODIFIER c.98-321C>T
c.98-321C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077847
chr10:104077934 G
G
A
A
1 a0002c0002t0002g0187
a0002c0002t0002g0187
1 NA18985.hp2
NA18985.hp2
intron_variant MODIFIER c.98-408C>T
c.98-408C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104077934
chr10:104078057 G
G
A
A
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.97+485C>T
c.97+485C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078057
chr10:104078215 T
T
A
A
1 a0001c0001t0001g0141
a0001c0001t0001g0141
1 HG00642.hp2
HG00642.hp2
intron_variant MODIFIER c.97+327A>T
c.97+327A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078215
chr10:104078225 C
C
T
T
11 a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0199
others(8): Show 
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0007c0011t0001g0200
14 HG00558.hp2
HG02083.hp1
HG02135.hp2
others(11): Show 
HG00558.hp2
HG02083.hp1
HG02135.hp2
NA18939.hp2
NA18942.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19063.hp2
intron_variant MODIFIER c.97+317G>A
c.97+317G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078225
chr10:104078232 T
T
C
C
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.97+310A>G
c.97+310A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078232
chr10:104078263 G
G
A
A
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.97+279C>T
c.97+279C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078263
chr10:104078417 A
A
G
G
2 a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0168
a0002c0002t0002g0169
2 NA19065.hp1
NA19066.hp2
NA19065.hp1
NA19066.hp2
intron_variant MODIFIER c.97+125T>C
c.97+125T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078417
chr10:104078445 A
A
G
G
1 a0018c0055t0001g0195
a0018c0055t0001g0195
1 NA18974.hp1
NA18974.hp1
intron_variant MODIFIER c.97+97T>C
c.97+97T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 3/55 chr10 104078445
chr10:104078697 T
T
C
C
1 a0001c0001t0001g0143
a0001c0001t0001g0143
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.53-111A>G
c.53-111A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104078697
chr10:104078885 C
C
T
T
1 a0007c0038t0001g0188
a0007c0038t0001g0188
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.53-299G>A
c.53-299G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104078885
chr10:104078945 G
G
A
A
42 a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
others(39): Show 
a0001c0001t0001g0225
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0005c0005t0001g0240
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0029c0033t0001g0242
45 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(42): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.53-359C>T
c.53-359C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104078945
chr10:104079082 C
C
A
A
227 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(224): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0002c0023t0001g0286
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0029c0033t0001g0242
a0030c0037t0002g0284
250 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(247): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.53-496G>T
c.53-496G>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079082
chr10:104079353 T
T
C
C
1 a0001c0001t0001g0144
a0001c0001t0001g0144
1 NA19064.hp2
NA19064.hp2
intron_variant MODIFIER c.53-767A>G
c.53-767A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079353
chr10:104079369 A
A
G
G
1 a0005c0005t0001g0194
a0005c0005t0001g0194
1 NA19064.hp1
NA19064.hp1
intron_variant MODIFIER c.53-783T>C
c.53-783T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079369
chr10:104079632 T
T
A
A
37 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
others(34): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0035
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0002t0002g0272
a0002c0002t0003g0274
a0002c0002t0005g0275
a0002c0002t0005g0277
a0002c0002t0005g0278
a0002c0002t0005g0279
a0002c0002t0005g0280
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0001g0276
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0008t0002g0003
a0006c0008t0002g0281
a0006c0008t0002g0282
a0006c0019t0001g0178
a0006c0019t0001g0185
a0008c0013t0001g0183
a0011c0016t0002g0017
a0011c0016t0002g0170
a0027c0043t0002g0273
45 HG00423.hp2
HG00544.hp2
HG00621.hp2
others(42): Show 
HG00423.hp2
HG00544.hp2
HG00621.hp2
HG01358.hp2
HG02148.hp1
HG02155.hp2
HG02622.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03225.hp1
HG03540.hp1
HG03688.hp2
NA18747.hp2
NA18947.hp1
NA18948.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA18999.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19056.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19076.hp1
NA19077.hp1
NA19082.hp1
NA19087.hp2
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.52+990A>T
c.52+990A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079632
chr10:104079720 G
G
T
T
1 a0001c0001t0001g0037
a0001c0001t0001g0037
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.52+902C>A
c.52+902C>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079720
chr10:104079820 G
G
A
A
1 a0003c0003t0001g0145
a0003c0003t0001g0145
1 HG02647.hp2
HG02647.hp2
intron_variant MODIFIER c.52+802C>T
c.52+802C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079820
chr10:104079884 G
G
A
A
1 a0004c0009t0001g0243
a0004c0009t0001g0243
1 HG01168.hp1
HG01168.hp1
intron_variant MODIFIER c.52+738C>T
c.52+738C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079884
chr10:104079922 G
G
A
A
3 a0002c0018t0001g0167
a0002c0018t0001g0186
a0006c0019t0001g0185
a0002c0018t0001g0167
a0002c0018t0001g0186
a0006c0019t0001g0185
3 NA18980.hp1
NA18997.hp1
NA19012.hp1
NA18980.hp1
NA18997.hp1
NA19012.hp1
intron_variant MODIFIER c.52+700C>T
c.52+700C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079922
chr10:104079926 C
C
CA
CA
239 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(236): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0029c0033t0001g0242
a0030c0037t0002g0284
262 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(259): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.52+695dupT
c.52+695dupT
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104079926
chr10:104080087 A
A
G
G
2 a0010c0021t0001g0251
a0013c0027t0003g0250
a0010c0021t0001g0251
a0013c0027t0003g0250
2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
intron_variant MODIFIER c.52+535T>C
c.52+535T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104080087
chr10:104080245 C
C
T
T
30 a0001c0006t0002g0208
a0002c0023t0001g0286
a0004c0009t0002g0289
others(27): Show 
a0001c0006t0002g0208
a0002c0023t0001g0286
a0004c0009t0002g0289
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0018c0055t0001g0195
a0030c0037t0002g0284
35 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(32): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01891.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp2
NA18949.hp1
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19063.hp2
NA19064.hp1
NA20752.hp2
intron_variant MODIFIER c.52+377G>A
c.52+377G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104080245
chr10:104080361 C
C
G
G
243 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(240): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0165
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0001g0286
a0002c0023t0004g0030
a0002c0031t0006g0283
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0012c0025t0001g0106
a0012c0025t0001g0107
a0013c0027t0003g0250
a0013c0044t0003g0290
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0024c0039t0003g0255
a0025c0040t0002g0287
a0026c0041t0001g0301
a0028c0045t0001g0029
a0029c0033t0001g0242
a0030c0037t0002g0284
266 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(263): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.52+261G>C
c.52+261G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 2/55 chr10 104080361
chr10:104080967 A
A
G
G
1 a0004c0004t0002g0211
a0004c0004t0002g0211
1 HG00741.hp2
HG00741.hp2
intron_variant MODIFIER c.-11-283T>C
c.-11-283T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104080967
chr10:104080970 A
A
G
G
1 a0024c0039t0003g0255
a0024c0039t0003g0255
1 HG03195.hp1
HG03195.hp1
intron_variant MODIFIER c.-11-286T>C
c.-11-286T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104080970
chr10:104081191 T
T
A
A
2 a0001c0026t0004g0149
a0003c0020t0001g0150
a0001c0026t0004g0149
a0003c0020t0001g0150
2 HG01891.hp2
HG03041.hp2
HG01891.hp2
HG03041.hp2
intron_variant MODIFIER c.-11-507A>T
c.-11-507A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081191
chr10:104081192 C
C
T
T
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.-11-508G>A
c.-11-508G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081192
chr10:104081275 C
C
T
T
5 a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
others(2): Show 
a0010c0021t0001g0251
a0010c0021t0001g0252
a0010c0028t0001g0254
a0010c0029t0004g0253
a0013c0027t0003g0250
5 HG01884.hp1
HG02109.hp2
HG02896.hp1
others(2): Show 
HG01884.hp1
HG02109.hp2
HG02896.hp1
HG03041.hp1
HG03516.hp1
intron_variant MODIFIER c.-11-591G>A
c.-11-591G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081275
chr10:104081643 T
T
C
C
15 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(12): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0028c0045t0001g0029
15 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(12): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.-11-959A>G
c.-11-959A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081643
chr10:104081653 T
T
A
A
1 a0002c0031t0006g0283
a0002c0031t0006g0283
1 HG02451.hp1
HG02451.hp1
intron_variant MODIFIER c.-11-969A>T
c.-11-969A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081653
chr10:104081859 A
A
G
G
15 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(12): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0002g0295
a0006c0008t0003g0027
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
a0028c0045t0001g0029
15 HG01175.hp2
HG01243.hp2
HG02109.hp1
others(12): Show 
HG01175.hp2
HG01243.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
intron_variant MODIFIER c.-11-1175T>C
c.-11-1175T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104081859
chr10:104082083 T
T
G
G
1 a0001c0001t0001g0151
a0001c0001t0001g0151
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.-11-1399A>C
c.-11-1399A>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104082083
chr10:104082401 T
T
C
C
6 a0001c0001t0001g0244
a0004c0004t0001g0247
a0004c0004t0001g0249
others(3): Show 
a0001c0001t0001g0244
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0248
a0004c0009t0001g0246
a0008c0017t0001g0245
6 HG00609.hp1
HG02015.hp1
HG02071.hp2
others(3): Show 
HG00609.hp1
HG02015.hp1
HG02071.hp2
NA18945.hp1
NA18994.hp2
NA19088.hp1
intron_variant MODIFIER c.-11-1717A>G
c.-11-1717A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104082401
chr10:104082531 C
C
T
T
1 a0002c0018t0001g0167
a0002c0018t0001g0167
1 NA19012.hp1
NA19012.hp1
intron_variant MODIFIER c.-11-1847G>A
c.-11-1847G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104082531
chr10:104083022 G
G
A
A
146 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(143): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0009c0012t0001g0004
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0017c0046t0003g0116
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
161 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-11-2338C>T
c.-11-2338C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083022
chr10:104083056 G
G
A
A
1 a0002c0023t0004g0030
a0002c0023t0004g0030
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.-11-2372C>T
c.-11-2372C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083056
chr10:104083060 G
G
A
A
1 a0025c0040t0002g0287
a0025c0040t0002g0287
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.-11-2376C>T
c.-11-2376C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083060
chr10:104083086 G
G
A
A
5 a0001c0001t0001g0153
a0003c0003t0001g0015
a0003c0003t0001g0152
others(2): Show 
a0001c0001t0001g0153
a0003c0003t0001g0015
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
6 HG01993.hp2
HG02004.hp1
HG02165.hp2
others(3): Show 
HG01993.hp2
HG02004.hp1
HG02165.hp2
NA18747.hp1
NA18946.hp1
NA19057.hp1
intron_variant MODIFIER c.-11-2402C>T
c.-11-2402C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083086
chr10:104083473 G
G
A
A
1 a0023c0047t0001g0156
a0023c0047t0001g0156
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.-12+2250C>T
c.-12+2250C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083473
chr10:104083526 T
T
A
A
1 a0009c0012t0001g0288
a0009c0012t0001g0288
1 NA18997.hp2
NA18997.hp2
intron_variant MODIFIER c.-12+2197A>T
c.-12+2197A>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083526
chr10:104083573 T
T
C
C
2 a0004c0009t0002g0289
a0005c0036t0003g0157
a0004c0009t0002g0289
a0005c0036t0003g0157
2 HG01106.hp1
HG02683.hp1
HG01106.hp1
HG02683.hp1
intron_variant MODIFIER c.-12+2150A>G
c.-12+2150A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083573
chr10:104083924 A
A
G
G
1 a0004c0009t0001g0022
a0004c0009t0001g0022
2 NA18949.hp2
NA18971.hp1
NA18949.hp2
NA18971.hp1
intron_variant MODIFIER c.-12+1799T>C
c.-12+1799T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083924
chr10:104083996 G
G
C
C
7 a0001c0001t0001g0016
a0001c0001t0001g0159
a0001c0001t0001g0161
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
8 HG01952.hp1
HG01975.hp2
HG01993.hp1
others(5): Show 
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02300.hp1
HG02523.hp1
NA18939.hp1
NA18999.hp2
NA19077.hp2
intron_variant MODIFIER c.-12+1727C>G
c.-12+1727C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104083996
chr10:104084134 G
G
A
A
223 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(220): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0225
a0001c0001t0001g0244
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0002g0208
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0035
a0002c0002t0008g0209
a0002c0023t0001g0286
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0009t0002g0289
a0004c0032t0002g0226
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0005t0001g0240
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0005c0036t0003g0157
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0035t0002g0285
a0007c0038t0001g0188
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0009c0012t0001g0288
a0012c0025t0001g0106
a0012c0025t0001g0107
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0016c0059t0001g0114
a0017c0046t0003g0116
a0018c0055t0001g0195
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0025c0040t0002g0287
a0026c0041t0001g0301
a0029c0033t0001g0242
a0030c0037t0002g0284
246 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(243): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-12+1589C>T
c.-12+1589C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084134
chr10:104084312 A
A
AT
AT
10 a0001c0001t0001g0034
a0001c0052t0001g0033
a0007c0011t0001g0019
others(7): Show 
a0001c0001t0001g0034
a0001c0052t0001g0033
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0038t0001g0188
a0014c0022t0001g0210
11 HG01891.hp1
HG02056.hp2
HG02280.hp2
others(8): Show 
HG01891.hp1
HG02056.hp2
HG02280.hp2
HG02559.hp1
HG02723.hp2
HG02735.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA19011.hp2
intron_variant MODIFIER c.-12+1410dupA
c.-12+1410dupA
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084312
chr10:104084332 C
C
T
T
1 a0001c0052t0001g0033
a0001c0052t0001g0033
1 NA19011.hp2
NA19011.hp2
intron_variant MODIFIER c.-12+1391G>A
c.-12+1391G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084332
chr10:104084351 C
C
T
T
11 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(8): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
11 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(8): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.-12+1372G>A
c.-12+1372G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084351
chr10:104084392 C
C
G
G
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.-12+1331G>C
c.-12+1331G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084392
chr10:104084435 A
A
G
G
1 a0009c0012t0001g0032
a0009c0012t0001g0032
1 NA19085.hp1
NA19085.hp1
intron_variant MODIFIER c.-12+1288T>C
c.-12+1288T>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084435
chr10:104084461 C
C
T
T
43 a0001c0001t0001g0225
a0001c0001t0001g0244
a0004c0004t0001g0247
others(40): Show 
a0001c0001t0001g0225
a0001c0001t0001g0244
a0004c0004t0001g0247
a0004c0004t0001g0249
a0004c0004t0002g0023
a0004c0004t0002g0211
a0004c0004t0002g0216
a0004c0004t0002g0219
a0004c0004t0002g0220
a0004c0004t0002g0222
a0004c0004t0002g0230
a0004c0004t0002g0235
a0004c0004t0002g0236
a0004c0004t0002g0241
a0004c0004t0002g0248
a0004c0004t0003g0024
a0004c0004t0003g0215
a0004c0004t0003g0224
a0004c0004t0003g0228
a0004c0004t0003g0238
a0004c0004t0003g0239
a0004c0004t0007g0218
a0004c0009t0001g0022
a0004c0009t0001g0217
a0004c0009t0001g0221
a0004c0009t0001g0233
a0004c0009t0001g0234
a0004c0009t0001g0243
a0004c0009t0001g0246
a0004c0032t0002g0226
a0005c0005t0001g0240
a0008c0013t0001g0212
a0008c0013t0001g0213
a0008c0013t0001g0229
a0008c0013t0001g0231
a0008c0013t0001g0232
a0008c0017t0001g0223
a0008c0017t0001g0227
a0008c0017t0001g0245
a0014c0022t0001g0210
a0014c0022t0001g0214
a0015c0030t0003g0237
a0029c0033t0001g0242
46 HG00609.hp1
HG00738.hp1
HG00738.hp2
others(43): Show 
HG00609.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG01928.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02273.hp1
HG02273.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18945.hp1
NA18949.hp2
NA18959.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp1
intron_variant MODIFIER c.-12+1262G>A
c.-12+1262G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084461
chr10:104084522 T
T
C
C
1 a0001c0001t0001g0164
a0001c0001t0001g0164
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.-12+1201A>G
c.-12+1201A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084522
chr10:104084580 T
T
C
C
11 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(8): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
11 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(8): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.-12+1143A>G
c.-12+1143A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084580
chr10:104084600 C
C
T
T
2 a0002c0010t0001g0028
a0006c0008t0003g0027
a0002c0010t0001g0028
a0006c0008t0003g0027
2 HG01243.hp2
HG03139.hp1
HG01243.hp2
HG03139.hp1
intron_variant MODIFIER c.-12+1123G>A
c.-12+1123G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084600
chr10:104084785 G
G
C
C
25 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0165
others(22): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0165
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0019t0001g0178
a0006c0019t0001g0185
a0008c0013t0001g0183
a0011c0016t0002g0017
a0011c0016t0002g0170
30 HG00423.hp2
HG00621.hp2
HG02148.hp1
others(27): Show 
HG00423.hp2
HG00621.hp2
HG02148.hp1
HG03688.hp2
NA18947.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19077.hp1
NA19079.hp2
NA19082.hp1
NA19087.hp2
intron_variant MODIFIER c.-12+938C>G
c.-12+938C>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084785
chr10:104084843 A
A
C
C
26 a0001c0006t0002g0208
a0002c0002t0008g0209
a0005c0005t0001g0005
others(23): Show 
a0001c0006t0002g0208
a0002c0002t0008g0209
a0005c0005t0001g0005
a0005c0005t0001g0020
a0005c0005t0001g0021
a0005c0005t0001g0194
a0005c0005t0001g0199
a0005c0005t0001g0201
a0005c0005t0001g0202
a0005c0005t0001g0203
a0005c0005t0001g0204
a0005c0005t0001g0205
a0005c0005t0001g0206
a0005c0005t0001g0207
a0005c0015t0003g0196
a0005c0015t0003g0197
a0005c0015t0003g0198
a0007c0011t0001g0019
a0007c0011t0001g0189
a0007c0011t0001g0190
a0007c0011t0001g0191
a0007c0011t0001g0192
a0007c0011t0001g0193
a0007c0011t0001g0200
a0007c0038t0001g0188
a0018c0055t0001g0195
31 HG00280.hp2
HG00558.hp2
HG01074.hp2
others(28): Show 
HG00280.hp2
HG00558.hp2
HG01074.hp2
HG01106.hp2
HG01891.hp1
HG02083.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02723.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp2
NA18949.hp1
NA18966.hp1
NA18967.hp2
NA18968.hp1
NA18974.hp1
NA18974.hp2
NA18992.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp1
NA19063.hp2
NA19064.hp1
NA20752.hp2
intron_variant MODIFIER c.-12+880T>G
c.-12+880T>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104084843
chr10:104085065 G
G
A
A
2 a0001c0001t0001g0166
a0002c0002t0002g0187
a0001c0001t0001g0166
a0002c0002t0002g0187
2 NA18985.hp2
NA18995.hp2
NA18985.hp2
NA18995.hp2
intron_variant MODIFIER c.-12+658C>T
c.-12+658C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085065
chr10:104085080 C
C
T
T
24 a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0168
others(21): Show 
a0002c0002t0002g0002
a0002c0002t0002g0018
a0002c0002t0002g0168
a0002c0002t0002g0169
a0002c0002t0002g0171
a0002c0002t0002g0173
a0002c0002t0002g0174
a0002c0002t0002g0175
a0002c0002t0002g0176
a0002c0002t0002g0182
a0002c0002t0002g0184
a0002c0002t0002g0187
a0002c0007t0001g0179
a0002c0007t0001g0180
a0002c0007t0001g0181
a0002c0007t0003g0177
a0002c0018t0001g0167
a0002c0018t0001g0172
a0002c0018t0001g0186
a0006c0019t0001g0178
a0006c0019t0001g0185
a0008c0013t0001g0183
a0011c0016t0002g0017
a0011c0016t0002g0170
29 HG00423.hp2
HG00621.hp2
HG02148.hp1
others(26): Show 
HG00423.hp2
HG00621.hp2
HG02148.hp1
HG03688.hp2
NA18947.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18972.hp2
NA18980.hp1
NA18985.hp2
NA18991.hp2
NA18992.hp1
NA18995.hp1
NA18997.hp1
NA19000.hp1
NA19009.hp2
NA19012.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19077.hp1
NA19082.hp1
NA19087.hp2
intron_variant MODIFIER c.-12+643G>A
c.-12+643G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085080
chr10:104085316 G
G
A
A
11 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(8): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
11 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(8): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.-12+407C>T
c.-12+407C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085316
chr10:104085377 T
T
C
C
11 a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
others(8): Show 
a0002c0002t0002g0291
a0002c0002t0002g0292
a0002c0002t0002g0293
a0002c0002t0002g0296
a0002c0002t0002g0297
a0002c0002t0002g0299
a0006c0008t0002g0295
a0006c0008t0009g0298
a0006c0019t0001g0300
a0006c0042t0002g0294
a0013c0044t0003g0290
11 HG02109.hp1
HG02145.hp2
HG02451.hp2
others(8): Show 
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
intron_variant MODIFIER c.-12+346A>G
c.-12+346A>G
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085377
chr10:104085469 C
C
T
T
149 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(146): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0002g0031
a0001c0001t0002g0057
a0001c0001t0002g0072
a0001c0001t0003g0038
a0001c0001t0010g0133
a0001c0006t0001g0074
a0001c0006t0002g0070
a0001c0006t0002g0071
a0001c0006t0002g0075
a0001c0006t0002g0092
a0001c0006t0002g0099
a0001c0006t0002g0102
a0001c0006t0002g0111
a0001c0006t0002g0123
a0001c0006t0002g0139
a0001c0006t0003g0041
a0001c0006t0003g0044
a0001c0006t0004g0094
a0001c0006t0004g0095
a0001c0014t0001g0065
a0001c0014t0001g0090
a0001c0014t0001g0109
a0001c0014t0001g0134
a0001c0014t0001g0135
a0001c0014t0001g0136
a0001c0024t0001g0097
a0001c0024t0006g0096
a0001c0026t0004g0149
a0001c0049t0001g0061
a0001c0050t0001g0098
a0001c0052t0001g0033
a0001c0053t0002g0055
a0001c0057t0001g0122
a0001c0060t0001g0142
a0002c0002t0002g0035
a0002c0002t0002g0165
a0003c0003t0001g0010
a0003c0003t0001g0011
a0003c0003t0001g0013
a0003c0003t0001g0014
a0003c0003t0001g0015
a0003c0003t0001g0042
a0003c0003t0001g0047
a0003c0003t0001g0048
a0003c0003t0001g0049
a0003c0003t0001g0050
a0003c0003t0001g0073
a0003c0003t0001g0076
a0003c0003t0001g0081
a0003c0003t0001g0084
a0003c0003t0001g0115
a0003c0003t0001g0117
a0003c0003t0001g0118
a0003c0003t0001g0120
a0003c0003t0001g0124
a0003c0003t0001g0127
a0003c0003t0001g0128
a0003c0003t0001g0130
a0003c0003t0001g0131
a0003c0003t0001g0145
a0003c0003t0001g0152
a0003c0003t0001g0154
a0003c0003t0001g0155
a0003c0003t0001g0158
a0003c0003t0001g0160
a0003c0003t0001g0162
a0003c0003t0002g0079
a0003c0003t0002g0112
a0003c0020t0001g0043
a0003c0020t0001g0150
a0003c0058t0001g0126
a0005c0036t0003g0157
a0009c0012t0001g0004
a0009c0012t0001g0032
a0009c0012t0001g0146
a0009c0012t0001g0147
a0009c0012t0001g0148
a0012c0025t0001g0106
a0012c0025t0001g0107
a0016c0059t0001g0114
a0017c0046t0003g0116
a0019c0056t0001g0063
a0020c0054t0001g0105
a0021c0051t0003g0069
a0022c0048t0001g0053
a0023c0047t0001g0156
a0026c0041t0001g0301
164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18942.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18989.hp2
NA18991.hp1
NA18994.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19076.hp1
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-12+254G>A
c.-12+254G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085469
chr10:104085494 C
C
G
G
1 a0001c0001t0002g0031
a0001c0001t0002g0031
1 HG01433.hp1
HG01433.hp1
intron_variant MODIFIER c.-12+229G>C
c.-12+229G>C
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085494
chr10:104085676 C
C
T
T
4 a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0003g0027
others(1): Show 
a0002c0010t0001g0028
a0002c0023t0004g0030
a0006c0008t0003g0027
a0028c0045t0001g0029
4 HG01175.hp2
HG01243.hp2
HG03139.hp1
others(1): Show 
HG01175.hp2
HG01243.hp2
HG03139.hp1
NA19030.hp2
intron_variant MODIFIER c.-12+47G>A
c.-12+47G>A
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085676
chr10:104085713 G
G
A
A
1 a0026c0041t0001g0301
a0026c0041t0001g0301
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.-12+10C>T
c.-12+10C>T
COL17A1 ENSG00000065618.21 transcript ENST00000648076.2 protein_coding 1/55 chr10 104085713

  • 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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