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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   PUS1_chr12_131924276_131950896  PUS1_chr12_131924276_131950896 (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 80324
ensemblid ENSG00000177192.14
hgncid 15508
symbol PUS1
name pseudouridine synthase 1
refseq_nuc NM_025215.6
refseq_prot NP_079491.2
ensembl_nuc ENST00000376649.8
ensembl_prot ENSP00000365837.3
mane_status MANE Select
chr chr12
start 131929276
end 131945896
strand +
ver v1.2
region chr12:131929276-131945896
region5000 chr12:131924276-131950896
regionname0 PUS1_chr12_131929276_131945896
regionname5000 PUS1_chr12_131924276_131950896

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 427 372 98 78 142 14 38 103 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0002 0/0 427 5 0 0 3 0 2 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0003 0/0 427 2 0 0 0 0 2 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0004 0/0 427 1 0 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0005 0/0 427 1 0 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0006 0/0 427 1 0 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1284 361 95 72 140 14 38 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0002 0/0 1284 5 0 0 3 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0003 0/0 1284 4 0 4 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0004 0/0 1284 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0005 0/0 1284 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0006 0/0 1284 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0007 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0008 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0009 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0010 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0011 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
c0012 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 2758 182 7 43 95 11 25 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0002 0/0 2758 45 18 3 23 1 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0003 0/0 2758 31 25 1 3 1 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0004 0/0 2759 15 0 6 9 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0005 0/0 2758 10 0 4 0 0 6 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0006 0/0 2758 9 9 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0007 1/0 2758 9 6 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0008 0/0 2759 9 0 8 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0009 0/0 2758 8 1 7 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0010 0/0 2758 5 0 0 5 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0011 0/0 2758 5 0 0 3 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0012 0/0 2759 5 5 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0013 0/0 2759 4 4 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0014 0/0 2758 3 3 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0015 0/0 2758 3 1 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0016 0/0 2758 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0017 0/0 2759 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0018 0/0 2758 2 1 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0019 0/0 2758 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0020 0/0 2758 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0021 0/0 2758 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0022 0/0 2758 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0023 0/0 2758 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0024 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0025 0/0 2758 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0026 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0027 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0028 0/0 2758 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0029 0/0 2758 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0030 0/0 2758 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0031 0/0 2758 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0032 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0033 0/0 2758 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0034 0/0 2758 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0035 0/0 2758 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0036 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0037 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0038 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0039 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0040 0/0 2758 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0041 0/0 2758 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0042 0/0 2759 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0043 0/0 2759 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0044 0/0 2759 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0045 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
t0046 0/0 2758 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/1 54 1 18 19 5 10 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0002 0/0 41 2 10 27 2 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0003 0/0 23 9 2 11 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0004 0/0 20 3 4 6 0 7 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0005 0/0 11 0 0 9 0 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0006 0/0 9 0 6 0 1 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0007 0/0 8 6 1 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0008 0/0 8 8 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0009 0/0 7 7 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0010 0/0 6 6 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0011 0/0 5 0 0 5 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0012 0/0 5 0 0 5 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0013 0/0 4 0 0 4 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0014 0/0 4 0 4 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0015 0/0 4 3 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0016 0/0 3 0 0 3 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0017 0/0 3 0 1 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0018 0/0 3 3 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0019 0/0 2 0 1 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0020 0/0 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0021 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0022 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0023 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0024 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0025 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0026 0/0 2 1 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0027 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0028 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0029 0/0 2 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0030 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0031 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0032 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0033 0/0 2 0 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0034 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0035 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0036 0/0 2 1 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0037 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0038 0/0 2 0 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0039 0/0 2 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0040 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0041 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0042 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0043 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0044 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0045 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0046 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0047 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0048 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0049 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0050 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0051 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0052 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0053 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0054 1/0 1 0 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0055 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0056 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0057 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0058 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0059 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0060 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0061 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0062 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0063 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0064 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0065 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0066 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0067 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0068 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0069 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0070 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0071 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0072 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0073 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0074 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0075 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0076 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0077 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0078 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0079 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0080 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0081 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0082 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0083 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0084 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0085 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0086 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0087 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0088 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0089 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0090 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0091 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0092 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0093 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0094 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0095 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0096 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0097 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0098 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0099 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0100 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0101 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0102 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0103 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0104 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0105 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0106 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0107 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0108 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0109 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0110 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0111 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0112 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0113 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0114 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0115 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0116 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0117 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0118 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0119 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0120 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0121 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0122 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0123 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0124 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0125 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0126 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0127 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0128 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0129 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0130 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0131 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0132 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0133 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0134 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0135 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0136 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0137 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0138 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0139 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0140 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0141 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0142 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0143 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0144 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0145 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0146 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0147 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0148 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0149 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0150 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0151 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0152 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0153 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0154 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0155 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0156 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
g0157 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1284 361 95 72 140 14 38 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0003 0/0 1284 4 0 4 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0004 0/0 1284 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0005 0/0 1284 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0007 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0011 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0012 0/0 1284 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0002c0002 0/0 1284 5 0 0 3 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0003c0006 0/0 1284 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0004c0008 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0005c0010 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0006c0009 0/0 1284 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 4041 173 7 41 90 11 23 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0002 0/0 4041 45 18 3 23 1 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0003 0/0 4041 31 25 1 3 1 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0004 0/0 4042 11 0 2 9 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0005 0/0 4041 10 0 4 0 0 6 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0006 0/0 4041 7 7 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0007 1/0 4041 8 5 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0008 0/0 4042 9 0 8 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0009 0/0 4041 8 1 7 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0010 0/0 4041 5 0 0 5 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0012 0/0 4042 5 5 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0013 0/0 4042 4 4 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0014 0/0 4041 3 3 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0015 0/0 4041 3 1 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0016 0/0 4041 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0017 0/0 4042 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0018 0/0 4041 2 1 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0019 0/0 4041 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0020 0/0 4041 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0021 0/0 4041 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0022 0/0 4041 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0023 0/0 4041 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0024 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0025 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0026 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0027 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0028 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0029 0/0 4041 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0030 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0031 0/0 4041 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0032 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0033 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0034 0/0 4041 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0035 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0036 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0037 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0038 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0039 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0040 0/0 4041 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0041 0/0 4041 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0042 0/0 4042 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0043 0/0 4042 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0044 0/0 4042 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0045 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0001t0046 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0003t0004 0/0 4042 4 0 4 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0004t0001 0/0 4041 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0005t0001 0/0 4041 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0007t0007 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0011t0006 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0001c0012t0006 0/0 4041 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0002c0002t0011 0/0 4041 5 0 0 3 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0003c0006t0001 0/0 4041 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0004c0008t0001 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0005c0010t0001 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896
a0006c0009t0001 0/0 4041 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 copy fasta chr12 131924276 131950896

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/1 35 1 12 12 4 5 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0002 0/0 21 1 0 18 2 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0004 0/0 13 2 3 4 0 4 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0005 0/0 8 0 0 6 0 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0006 0/0 9 0 6 0 1 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0011 0/0 5 0 0 5 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0013 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0016 0/0 3 0 0 3 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0017 0/0 3 0 1 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0019 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0020 0/0 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0022 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0023 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0024 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0034 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0035 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0036 0/0 2 1 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0037 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0038 0/0 2 0 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0039 0/0 2 0 1 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0044 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0055 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0070 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0092 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0093 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0094 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0095 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0096 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0098 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0099 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0100 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0101 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0104 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0105 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0106 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0108 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0109 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0112 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0115 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0116 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0119 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0120 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0121 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0122 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0123 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0124 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0125 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0126 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0129 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0132 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0133 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0136 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0001g0137 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0003 0/0 22 8 2 11 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0012 0/0 4 0 0 4 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0015 0/0 3 2 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0026 0/0 2 1 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0027 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0031 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0076 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0077 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0078 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0079 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0080 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0083 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0087 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0088 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0002g0089 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0007 0/0 7 5 1 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0009 0/0 7 7 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0018 0/0 3 3 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0043 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0046 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0141 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0142 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0144 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0145 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0146 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0147 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0148 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0149 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0151 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0155 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0003g0157 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0004g0002 0/0 9 0 2 7 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0004g0021 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0005g0001 0/0 9 0 4 0 0 5 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0005g0097 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0028 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0030 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0047 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0111 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0127 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0128 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0006g0153 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0007g0010 0/0 4 4 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0007g0032 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0007g0054 1/0 1 0 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0007g0118 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0008g0014 0/0 4 0 4 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0008g0025 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0008g0029 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0008g0074 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0008g0075 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0009g0002 0/0 7 1 6 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0009g0019 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0010g0001 0/0 4 0 0 4 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0010g0103 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0012g0008 0/0 4 4 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0012g0152 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0013g0008 0/0 4 4 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0014g0007 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0014g0143 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0014g0150 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0015g0073 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0015g0085 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0015g0086 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0016g0041 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0017g0042 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0018g0048 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0018g0050 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0019g0040 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0020g0004 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0020g0135 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0021g0013 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0022g0004 0/0 2 0 0 0 0 2 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0023g0010 0/0 2 2 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0024g0081 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0025g0004 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0026g0030 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0027g0028 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0028g0001 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0029g0052 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0030g0002 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0031g0004 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0032g0131 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0033g0002 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0034g0113 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0035g0107 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0036g0064 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0037g0053 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0038g0154 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0039g0063 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0040g0001 0/0 1 0 0 0 1 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0041g0082 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0042g0004 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0043g0012 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0044g0029 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0045g0015 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0001t0046g0003 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0003t0004g0002 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0003t0004g0057 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0003t0004g0060 0/0 1 0 1 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0004t0001g0001 0/0 2 0 2 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0005t0001g0005 0/0 2 0 0 2 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0007t0007g0156 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0011t0006g0140 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0001c0012t0006g0139 0/0 1 1 0 0 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0002c0002t0011g0033 0/0 2 0 0 1 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0002c0002t0011g0090 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0002c0002t0011g0091 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0002c0002t0011g0138 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0003c0006t0001g0004 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0003c0006t0001g0130 0/0 1 0 0 0 0 1 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0004c0008t0001g0001 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0005c0010t0001g0005 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
a0006c0009t0001g0001 0/0 1 0 0 1 0 0 PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0006 EUR GBR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00140 hp2 a0001 c0001 t0001 g0001 EUR GBR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00280 hp1 a0001 c0001 t0002 g0003 EUR FIN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00280 hp2 a0001 c0001 t0001 g0036 EUR FIN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00323 hp1 a0001 c0001 t0001 g0001 EUR FIN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00323 hp2 a0001 c0001 t0001 g0099 EUR FIN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00408 hp1 a0001 c0001 t0001 g0001 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00408 hp2 a0001 c0001 t0030 g0002 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00423 hp1 a0001 c0001 t0001 g0044 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00423 hp2 a0001 c0001 t0001 g0024 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00438 hp1 a0001 c0001 t0002 g0003 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00438 hp2 a0001 c0001 t0001 g0061 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00597 hp1 a0001 c0001 t0001 g0002 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00597 hp2 a0001 c0001 t0002 g0003 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00609 hp1 a0001 c0001 t0001 g0002 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00609 hp2 a0001 c0001 t0001 g0004 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00621 hp1 a0001 c0001 t0004 g0002 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00621 hp2 a0001 c0001 t0001 g0016 EAS CHS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00733 hp1 a0001 c0001 t0019 g0040 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00733 hp2 a0001 c0001 t0001 g0004 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00735 hp1 a0001 c0001 t0001 g0137 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00735 hp2 a0001 c0001 t0005 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00738 hp1 a0001 c0001 t0001 g0109 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00738 hp2 a0001 c0001 t0005 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00741 hp1 a0001 c0001 t0001 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG00741 hp2 a0001 c0001 t0009 g0002 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01069 hp1 a0001 c0001 t0005 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01069 hp2 a0001 c0001 t0009 g0002 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01070 hp1 a0001 c0001 t0001 g0098 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01070 hp2 a0001 c0001 t0001 g0093 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01071 hp1 a0001 c0001 t0009 g0002 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01071 hp2 a0001 c0001 t0001 g0104 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01074 hp1 a0001 c0001 t0001 g0006 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01074 hp2 a0001 c0001 t0001 g0136 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01081 hp1 a0001 c0001 t0001 g0006 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01081 hp2 a0001 c0001 t0008 g0029 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01099 hp1 a0001 c0001 t0001 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01099 hp2 a0001 c0001 t0008 g0075 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01106 hp1 a0001 c0001 t0001 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01106 hp2 a0001 c0001 t0002 g0003 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01109 hp1 a0001 c0001 t0004 g0002 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01109 hp2 a0001 c0001 t0001 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01167 hp1 a0001 c0001 t0007 g0032 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01167 hp2 a0001 c0001 t0008 g0014 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01168 hp1 a0001 c0001 t0001 g0035 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01168 hp2 a0001 c0001 t0005 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01169 hp1 a0001 c0001 t0001 g0035 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01169 hp2 a0001 c0001 t0007 g0032 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01175 hp1 a0001 c0001 t0019 g0040 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01175 hp2 a0001 c0001 t0002 g0003 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01192 hp1 a0001 c0001 t0001 g0006 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01192 hp2 a0001 c0001 t0001 g0001 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01243 hp1 a0001 c0001 t0041 g0082 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01243 hp2 a0001 c0001 t0001 g0096 AMR PUR PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01255 hp1 a0001 c0001 t0001 g0100 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01255 hp2 a0001 c0004 t0001 g0001 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01256 hp1 a0001 c0001 t0031 g0004 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01256 hp2 a0001 c0001 t0001 g0023 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01257 hp1 a0001 c0001 t0009 g0019 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01257 hp2 a0001 c0001 t0001 g0095 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01258 hp1 a0001 c0001 t0009 g0002 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01258 hp2 a0001 c0001 t0001 g0023 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01261 hp1 a0001 c0001 t0008 g0014 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01261 hp2 a0001 c0001 t0009 g0002 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01346 hp1 a0001 c0001 t0001 g0034 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01346 hp2 a0001 c0001 t0001 g0004 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01358 hp1 a0001 c0001 t0001 g0034 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01358 hp2 a0001 c0003 t0004 g0002 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01361 hp1 a0001 c0001 t0001 g0122 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01361 hp2 a0001 c0001 t0001 g0108 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01433 hp1 a0001 c0001 t0001 g0006 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01433 hp2 a0001 c0001 t0008 g0014 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01515 hp1 a0001 c0001 t0001 g0116 EUR IBS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01515 hp2 a0001 c0001 t0040 g0001 EUR IBS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01516 hp1 a0001 c0001 t0001 g0002 EUR IBS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01516 hp2 a0001 c0001 t0001 g0001 EUR IBS PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01884 hp1 a0001 c0001 t0001 g0002 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01884 hp2 a0001 c0001 t0006 g0128 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01891 hp1 a0001 c0001 t0007 g0118 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01891 hp2 a0001 c0001 t0003 g0155 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01928 hp1 a0001 c0001 t0004 g0002 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01928 hp2 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01934 hp1 a0001 c0001 t0003 g0007 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01934 hp2 a0001 c0001 t0002 g0015 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01943 hp1 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01943 hp2 a0001 c0001 t0001 g0039 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01952 hp1 a0001 c0003 t0004 g0002 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01952 hp2 a0001 c0001 t0008 g0025 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01975 hp1 a0001 c0001 t0008 g0025 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01978 hp1 a0001 c0001 t0009 g0002 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01978 hp2 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01981 hp1 a0001 c0003 t0004 g0057 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01981 hp2 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01993 hp1 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01993 hp2 a0001 c0001 t0001 g0006 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02004 hp1 a0001 c0003 t0004 g0060 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02004 hp2 a0001 c0001 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02015 hp1 a0001 c0001 t0001 g0124 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02015 hp2 a0001 c0001 t0001 g0067 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02027 hp1 a0001 c0001 t0001 g0004 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02027 hp2 a0001 c0001 t0001 g0016 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02040 hp1 a0001 c0005 t0001 g0005 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02040 hp2 a0001 c0001 t0001 g0062 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02055 hp1 a0001 c0001 t0002 g0015 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02055 hp2 a0001 c0001 t0016 g0041 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02056 hp1 a0001 c0001 t0001 g0001 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02056 hp2 a0002 c0002 t0011 g0033 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02071 hp1 a0001 c0001 t0004 g0021 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02071 hp2 a0001 c0001 t0001 g0005 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02074 hp1 a0001 c0001 t0004 g0002 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02074 hp2 a0001 c0001 t0004 g0002 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02080 hp1 a0001 c0001 t0002 g0003 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02080 hp2 a0001 c0001 t0001 g0002 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02083 hp1 a0001 c0001 t0002 g0003 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02083 hp2 a0001 c0001 t0042 g0004 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02129 hp1 a0001 c0001 t0002 g0003 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02129 hp2 a0001 c0001 t0001 g0001 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02132 hp1 a0001 c0005 t0001 g0005 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02132 hp2 a0001 c0001 t0004 g0021 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02135 hp1 a0001 c0001 t0001 g0133 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02135 hp2 a0001 c0001 t0001 g0005 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02145 hp1 a0001 c0001 t0003 g0018 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02145 hp2 a0001 c0001 t0002 g0003 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02165 hp1 a0001 c0001 t0001 g0058 EAS CDX PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02165 hp2 a0001 c0001 t0001 g0001 EAS CDX PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02257 hp1 a0001 c0001 t0001 g0004 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02257 hp2 a0001 c0001 t0038 g0154 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02258 hp1 a0001 c0001 t0003 g0043 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02258 hp2 a0001 c0001 t0012 g0008 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02293 hp1 a0001 c0004 t0001 g0001 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02293 hp2 a0001 c0001 t0001 g0004 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02300 hp1 a0001 c0001 t0001 g0006 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02300 hp2 a0001 c0001 t0001 g0017 AMR PEL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02451 hp1 a0001 c0001 t0003 g0007 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02451 hp2 a0001 c0001 t0003 g0018 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02523 hp1 a0001 c0001 t0035 g0107 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02523 hp2 a0001 c0001 t0004 g0002 EAS KHV PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02572 hp1 a0001 c0001 t0002 g0077 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02572 hp2 a0001 c0001 t0020 g0135 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02602 hp1 a0001 c0001 t0001 g0123 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02602 hp2 a0001 c0001 t0001 g0125 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02615 hp1 a0001 c0001 t0003 g0007 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02615 hp2 a0001 c0001 t0002 g0078 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02622 hp1 a0001 c0001 t0003 g0007 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02622 hp2 a0001 c0001 t0037 g0053 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02630 hp1 a0001 c0001 t0012 g0008 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02630 hp2 a0001 c0001 t0024 g0081 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02647 hp1 a0001 c0001 t0003 g0149 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02647 hp2 a0001 c0001 t0003 g0046 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02683 hp1 a0001 c0001 t0001 g0004 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02683 hp2 a0003 c0006 t0001 g0130 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02717 hp1 a0001 c0001 t0003 g0009 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02717 hp2 a0001 c0001 t0002 g0003 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02723 hp1 a0001 c0001 t0003 g0151 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02723 hp2 a0001 c0001 t0003 g0009 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02735 hp1 a0002 c0002 t0011 g0090 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02735 hp2 a0001 c0001 t0022 g0004 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02738 hp1 a0001 c0001 t0003 g0145 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02738 hp2 a0001 c0001 t0034 g0113 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02809 hp1 a0001 c0001 t0045 g0015 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02809 hp2 a0001 c0001 t0006 g0028 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02818 hp1 a0001 c0001 t0003 g0007 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02818 hp2 a0001 c0001 t0003 g0144 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02886 hp1 a0001 c0001 t0002 g0083 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02886 hp2 a0001 c0001 t0002 g0003 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02895 hp1 a0001 c0001 t0002 g0079 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02895 hp2 a0001 c0001 t0006 g0111 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02896 hp1 a0001 c0001 t0017 g0042 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02896 hp2 a0001 c0001 t0027 g0028 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02897 hp1 a0001 c0001 t0006 g0127 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02897 hp2 a0001 c0001 t0017 g0042 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02922 hp1 a0001 c0001 t0036 g0064 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02922 hp2 a0001 c0001 t0002 g0003 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02965 hp1 a0001 c0001 t0016 g0041 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02965 hp2 a0001 c0001 t0023 g0010 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02970 hp1 a0001 c0001 t0046 g0003 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02970 hp2 a0001 c0012 t0006 g0139 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02976 hp1 a0001 c0001 t0002 g0003 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02976 hp2 a0001 c0001 t0023 g0010 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03041 hp1 a0001 c0001 t0012 g0152 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03041 hp2 a0001 c0001 t0015 g0085 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03098 hp1 a0001 c0001 t0014 g0150 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03098 hp2 a0001 c0001 t0012 g0008 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03130 hp1 a0001 c0001 t0013 g0008 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03130 hp2 a0001 c0001 t0039 g0063 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03139 hp1 a0001 c0001 t0032 g0131 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03139 hp2 a0001 c0001 t0013 g0008 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03195 hp1 a0001 c0001 t0012 g0008 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03195 hp2 a0001 c0001 t0001 g0119 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03209 hp1 a0001 c0001 t0020 g0004 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03209 hp2 a0001 c0001 t0002 g0089 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03225 hp1 a0001 c0007 t0007 g0156 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03225 hp2 a0001 c0001 t0014 g0143 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03239 hp1 a0001 c0001 t0001 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03239 hp2 a0001 c0001 t0001 g0006 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03453 hp1 a0001 c0001 t0003 g0009 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03453 hp2 a0001 c0001 t0006 g0030 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03486 hp1 a0001 c0001 t0003 g0142 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03486 hp2 a0001 c0001 t0003 g0043 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03490 hp1 a0001 c0001 t0001 g0005 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03490 hp2 a0001 c0001 t0001 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03491 hp1 a0001 c0001 t0001 g0020 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03491 hp2 a0001 c0001 t0005 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03492 hp1 a0001 c0001 t0001 g0020 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03492 hp2 a0001 c0001 t0001 g0005 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03516 hp1 a0001 c0001 t0007 g0010 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03516 hp2 a0001 c0001 t0002 g0003 AFR ESN PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03540 hp1 a0001 c0001 t0007 g0010 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03540 hp2 a0001 c0001 t0003 g0007 AFR GWD PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03579 hp1 a0001 c0001 t0007 g0010 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03579 hp2 a0001 c0001 t0002 g0003 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03654 hp1 a0001 c0001 t0001 g0006 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03654 hp2 a0002 c0002 t0011 g0033 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03669 hp1 a0001 c0001 t0005 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03669 hp2 a0001 c0001 t0001 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03688 hp1 a0001 c0001 t0001 g0001 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03688 hp2 a0001 c0001 t0001 g0004 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03704 hp1 a0001 c0001 t0001 g0105 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03704 hp2 a0001 c0001 t0005 g0001 SAS PJL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03831 hp1 a0001 c0001 t0001 g0070 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03831 hp2 a0001 c0001 t0018 g0048 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03834 hp1 a0001 c0001 t0001 g0039 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03834 hp2 a0001 c0001 t0001 g0092 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03927 hp1 a0001 c0001 t0005 g0097 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03927 hp2 a0001 c0001 t0001 g0001 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03942 hp1 a0001 c0001 t0029 g0052 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03942 hp2 a0001 c0001 t0001 g0038 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04115 hp1 a0001 c0001 t0001 g0004 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04115 hp2 a0001 c0001 t0015 g0073 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04184 hp1 a0001 c0001 t0044 g0029 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04184 hp2 a0001 c0001 t0001 g0121 SAS BEB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04199 hp1 a0001 c0001 t0008 g0074 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04199 hp2 a0001 c0001 t0022 g0004 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04204 hp1 a0001 c0001 t0005 g0001 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04204 hp2 a0001 c0001 t0001 g0004 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04228 hp1 a0001 c0001 t0005 g0001 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG04228 hp2 a0003 c0006 t0001 g0004 SAS STU PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18522 hp1 a0001 c0001 t0002 g0026 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18522 hp2 a0001 c0011 t0006 g0140 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18747 hp1 a0001 c0001 t0002 g0026 EAS CHB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18747 hp2 a0001 c0001 t0004 g0002 EAS CHB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18906 hp1 a0001 c0001 t0003 g0146 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18906 hp2 a0001 c0001 t0003 g0009 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18940 hp1 a0001 c0001 t0001 g0066 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18940 hp2 a0001 c0001 t0001 g0120 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18941 hp1 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18941 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18943 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18943 hp2 a0001 c0001 t0001 g0110 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18944 hp1 a0001 c0001 t0028 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18944 hp2 a0001 c0001 t0001 g0011 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18945 hp1 a0001 c0001 t0001 g0051 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18945 hp2 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18947 hp1 a0001 c0001 t0001 g0013 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18947 hp2 a0001 c0001 t0001 g0037 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18948 hp1 a0001 c0001 t0001 g0115 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18948 hp2 a0001 c0001 t0010 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18949 hp1 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18949 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18952 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18952 hp2 a0002 c0002 t0011 g0091 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18953 hp1 a0001 c0001 t0001 g0005 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18953 hp2 a0001 c0001 t0001 g0102 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18954 hp1 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18954 hp2 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18956 hp1 a0001 c0001 t0002 g0084 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18956 hp2 a0001 c0001 t0010 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18957 hp1 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18957 hp2 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18959 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18959 hp2 a0001 c0001 t0001 g0129 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18960 hp1 a0001 c0001 t0002 g0027 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18960 hp2 a0005 c0010 t0001 g0005 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18961 hp1 a0001 c0001 t0025 g0004 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18961 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18962 hp1 a0001 c0001 t0001 g0049 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18962 hp2 a0001 c0001 t0001 g0024 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18963 hp1 a0001 c0001 t0002 g0076 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18963 hp2 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18966 hp1 a0001 c0001 t0001 g0005 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18966 hp2 a0001 c0001 t0003 g0141 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18967 hp1 a0001 c0001 t0001 g0005 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18967 hp2 a0001 c0001 t0001 g0004 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18971 hp1 a0004 c0008 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18971 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18973 hp1 a0001 c0001 t0001 g0045 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18973 hp2 a0001 c0001 t0001 g0013 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18974 hp1 a0001 c0001 t0021 g0013 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18974 hp2 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18975 hp1 a0001 c0001 t0021 g0013 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18975 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18983 hp1 a0001 c0001 t0001 g0037 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18983 hp2 a0001 c0001 t0001 g0072 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18984 hp1 a0001 c0001 t0001 g0055 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18984 hp2 a0001 c0001 t0010 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18987 hp1 a0001 c0001 t0001 g0011 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18987 hp2 a0001 c0001 t0001 g0101 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18990 hp1 a0001 c0001 t0001 g0117 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18990 hp2 a0001 c0001 t0001 g0022 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18991 hp1 a0001 c0001 t0001 g0059 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18991 hp2 a0001 c0001 t0002 g0088 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18993 hp1 a0001 c0001 t0004 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18993 hp2 a0001 c0001 t0002 g0031 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18995 hp1 a0001 c0001 t0003 g0147 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18995 hp2 a0001 c0001 t0001 g0011 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18998 hp1 a0001 c0001 t0001 g0071 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18998 hp2 a0001 c0001 t0001 g0134 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18999 hp1 a0001 c0001 t0001 g0068 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA18999 hp2 a0001 c0001 t0001 g0011 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19000 hp1 a0001 c0001 t0001 g0112 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19000 hp2 a0001 c0001 t0001 g0005 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19004 hp1 a0001 c0001 t0001 g0017 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19004 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19005 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19005 hp2 a0001 c0001 t0002 g0003 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19007 hp1 a0001 c0001 t0002 g0012 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19007 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19009 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19009 hp2 a0001 c0001 t0001 g0038 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19010 hp1 a0001 c0001 t0002 g0031 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19010 hp2 a0001 c0001 t0004 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19011 hp1 a0001 c0001 t0001 g0016 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19011 hp2 a0001 c0001 t0033 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19030 hp1 a0001 c0001 t0006 g0047 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19030 hp2 a0001 c0001 t0002 g0087 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19043 hp1 a0001 c0001 t0001 g0126 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19043 hp2 a0001 c0001 t0013 g0008 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19056 hp1 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19056 hp2 a0001 c0001 t0001 g0019 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19058 hp1 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19058 hp2 a0001 c0001 t0001 g0056 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19060 hp1 a0001 c0001 t0010 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19060 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19064 hp1 a0001 c0001 t0003 g0148 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19064 hp2 a0006 c0009 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19065 hp1 a0001 c0001 t0002 g0012 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19065 hp2 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19066 hp1 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19066 hp2 a0001 c0001 t0001 g0001 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19070 hp1 a0001 c0001 t0001 g0004 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19070 hp2 a0001 c0001 t0002 g0012 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19075 hp1 a0001 c0001 t0001 g0114 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19075 hp2 a0001 c0001 t0010 g0103 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19079 hp1 a0001 c0001 t0002 g0012 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19079 hp2 a0001 c0001 t0001 g0011 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19080 hp1 a0001 c0001 t0001 g0132 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19080 hp2 a0002 c0002 t0011 g0138 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19084 hp1 a0001 c0001 t0001 g0065 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19084 hp2 a0001 c0001 t0043 g0012 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19086 hp1 a0001 c0001 t0002 g0027 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19086 hp2 a0001 c0001 t0001 g0002 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19087 hp1 a0001 c0001 t0015 g0086 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19087 hp2 a0001 c0001 t0001 g0022 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19089 hp1 a0001 c0001 t0001 g0069 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19089 hp2 a0001 c0001 t0001 g0017 EAS JPT PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19240 hp1 a0001 c0001 t0003 g0157 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA19240 hp2 a0001 c0001 t0001 g0004 AFR YRI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20129 hp1 a0001 c0001 t0003 g0009 AFR ASW PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20129 hp2 a0001 c0001 t0001 g0036 AFR ASW PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20752 hp1 a0001 c0001 t0003 g0007 EUR TSI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20752 hp2 a0001 c0001 t0001 g0001 EUR TSI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20805 hp1 a0001 c0001 t0001 g0106 EUR TSI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20805 hp2 a0001 c0001 t0001 g0002 EUR TSI PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01123 hp1 a0001 c0001 t0008 g0014 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG01123 hp2 a0001 c0001 t0001 g0094 AMR CLM PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02109 hp1 a0001 c0001 t0013 g0008 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02109 hp2 a0001 c0001 t0002 g0015 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02486 hp1 a0001 c0001 t0002 g0003 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02486 hp2 a0001 c0001 t0003 g0018 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02559 hp1 a0001 c0001 t0026 g0030 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG02559 hp2 a0001 c0001 t0006 g0153 AFR ACB PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03471 hp1 a0001 c0001 t0003 g0009 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG03471 hp2 a0001 c0001 t0002 g0080 AFR MSL PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG06807 hp1 a0001 c0001 t0007 g0010 AFR USA PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
HG06807 hp2 a0001 c0001 t0009 g0002 AFR USA PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA20300 hp2 a0001 c0001 t0018 g0050 AFR USA PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA21309 hp1 a0001 c0001 t0014 g0007 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
NA21309 hp2 a0001 c0001 t0003 g0009 AFR LWK PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0001 REF REF PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896
homoSapiens_grch38 hp1 a0001 c0001 t0007 g0054 REF REF PUS1_chr12_131924276_131950896 PUS1 chr12 131924276 131950896

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
chr12:131929942 C
C
 G
G
 1 a0003
a0003
 2 HG02683.hp2
HG04228.hp2
HG02683.hp2
HG04228.hp2
 missense_variant MODERATE c.110C>G
c.110C>G
 p.Pro37Arg
p.Pro37Arg
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/6 557/4041 110/1284 37/427 chr12 131929942
chr12:131932268 G
G
 A
A
 1 a0002
a0002
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 missense_variant MODERATE c.397G>A
c.397G>A
 p.Asp133Asn
p.Asp133Asn
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/6 844/4041 397/1284 133/427 chr12 131932268
chr12:131941396 G
G
 A
A
 1 a0004
a0004
 1 NA18971.hp1
NA18971.hp1
 missense_variant MODERATE c.649G>A
c.649G>A
 p.Val217Ile
p.Val217Ile
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1096/4041 649/1284 217/427 chr12 131941396
chr12:131941504 G
G
 C
C
 1 a0006
a0006
 1 NA19064.hp2
NA19064.hp2
 missense_variant MODERATE c.757G>C
c.757G>C
 p.Gly253Arg
p.Gly253Arg
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1204/4041 757/1284 253/427 chr12 131941504
chr12:131941801 C
C
 G
G
 1 a0005
a0005
 1 NA18960.hp2
NA18960.hp2
 missense_variant MODERATE c.1054C>G
c.1054C>G
 p.Leu352Val
p.Leu352Val
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1501/4041 1054/1284 352/427 chr12 131941801
chr12:131941876 A
A
 G
G
 1 a0005
a0005
 1 NA18960.hp2
NA18960.hp2
 missense_variant MODERATE c.1129A>G
c.1129A>G
 p.Ile377Val
p.Ile377Val
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1576/4041 1129/1284 377/427 chr12 131941876

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
chr12:131932216 C
C
 T
T
 2 a0001c0011
a0001c0012
a0001c0011
a0001c0012
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 synonymous_variant LOW c.345C>T
c.345C>T
 p.Asp115Asp
p.Asp115Asp
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/6 792/4041 345/1284 115/427 chr12 131932216
chr12:131932235 C
C
 A
A
 1 a0001c0003
a0001c0003
 4 HG01358.hp2
HG01952.hp1
HG01981.hp1
others(1): Show 
HG01358.hp2
HG01952.hp1
HG01981.hp1
HG02004.hp1
 synonymous_variant LOW c.364C>A
c.364C>A
 p.Arg122Arg
p.Arg122Arg
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/6 811/4041 364/1284 122/427 chr12 131932235
chr12:131932297 C
C
 T
T
 1 a0001c0005
a0001c0005
 2 HG02040.hp1
HG02132.hp1
HG02040.hp1
HG02132.hp1
 synonymous_variant LOW c.426C>T
c.426C>T
 p.Cys142Cys
p.Cys142Cys
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/6 873/4041 426/1284 142/427 chr12 131932297
chr12:131941368 G
G
 A
A
 2 a0001c0007
a0001c0011
a0001c0007
a0001c0011
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 synonymous_variant LOW c.621G>A
c.621G>A
 p.Thr207Thr
p.Thr207Thr
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1068/4041 621/1284 207/427 chr12 131941368
chr12:131941767 C
C
 T
T
 1 a0001c0004
a0001c0004
 2 HG01255.hp2
HG02293.hp1
HG01255.hp2
HG02293.hp1
 synonymous_variant LOW c.1020C>T
c.1020C>T
 p.Phe340Phe
p.Phe340Phe
 PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/6 1467/4041 1020/1284 340/427 chr12 131941767

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
chr12:131929276 A
A
 C
C
 1 a0001c0001t0023
a0001c0001t0023
 2 HG02965.hp2
HG02976.hp2
HG02965.hp2
HG02976.hp2
 5_prime_UTR_variant MODIFIER c.-447A>C
c.-447A>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 1/6 447 chr12 131929276
chr12:131929541 C
C
 T
T
 8 a0001c0001t0002
a0001c0001t0008
a0001c0001t0015
others(5): Show 
a0001c0001t0002
a0001c0001t0008
a0001c0001t0015
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
 62 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(59): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01261.hp1
HG01433.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-182C>T
c.-182C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 1/6 chr12 131929541
chr12:131943590 G
G
 A
A
 1 a0001c0001t0024
a0001c0001t0024
 1 HG02630.hp2
HG02630.hp2
 3_prime_UTR_variant MODIFIER c.*4G>A
c.*4G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 4 chr12 131943590
chr12:131943602 C
C
 T
T
 2 a0001c0001t0012
a0001c0001t0013
a0001c0001t0012
a0001c0001t0013
 9 HG02109.hp1
HG02258.hp2
HG02630.hp1
others(6): Show 
HG02109.hp1
HG02258.hp2
HG02630.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*16C>T
c.*16C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 16 chr12 131943602
chr12:131943705 C
C
 T
T
 1 a0002c0002t0011
a0002c0002t0011
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 3_prime_UTR_variant MODIFIER c.*119C>T
c.*119C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 119 chr12 131943705
chr12:131943750 C
C
 T
T
 1 a0001c0001t0041
a0001c0001t0041
 1 HG01243.hp1
HG01243.hp1
 3_prime_UTR_variant MODIFIER c.*164C>T
c.*164C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 164 chr12 131943750
chr12:131943757 G
G
 A
A
 1 a0001c0001t0013
a0001c0001t0013
 4 HG02109.hp1
HG03130.hp1
HG03139.hp2
others(1): Show 
HG02109.hp1
HG03130.hp1
HG03139.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*171G>A
c.*171G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 171 chr12 131943757
chr12:131943794 T
T
 C
C
 1 a0001c0001t0016
a0001c0001t0016
 2 HG02055.hp2
HG02965.hp1
HG02055.hp2
HG02965.hp1
 3_prime_UTR_variant MODIFIER c.*208T>C
c.*208T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 208 chr12 131943794
chr12:131943800 G
G
 T
T
 1 a0001c0001t0023
a0001c0001t0023
 2 HG02965.hp2
HG02976.hp2
HG02965.hp2
HG02976.hp2
 3_prime_UTR_variant MODIFIER c.*214G>T
c.*214G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 214 chr12 131943800
chr12:131943839 G
G
 C
C
 1 a0001c0001t0025
a0001c0001t0025
 1 NA18961.hp1
NA18961.hp1
 3_prime_UTR_variant MODIFIER c.*253G>C
c.*253G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 253 chr12 131943839
chr12:131943953 G
G
 A
A
 1 a0001c0001t0025
a0001c0001t0025
 1 NA18961.hp1
NA18961.hp1
 3_prime_UTR_variant MODIFIER c.*367G>A
c.*367G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 367 chr12 131943953
chr12:131944162 G
G
 A
A
 1 a0001c0001t0014
a0001c0001t0014
 3 HG03098.hp1
HG03225.hp2
NA21309.hp1
HG03098.hp1
HG03225.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*576G>A
c.*576G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 576 chr12 131944162
chr12:131944197 C
C
 CA
CA
 9 a0001c0001t0004
a0001c0001t0008
a0001c0001t0012
others(6): Show 
a0001c0001t0004
a0001c0001t0008
a0001c0001t0012
a0001c0001t0013
a0001c0001t0017
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0003t0004
 38 HG00621.hp1
HG01081.hp2
HG01099.hp2
others(35): Show 
HG00621.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01261.hp1
HG01358.hp2
HG01433.hp2
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02258.hp2
HG02523.hp2
HG02630.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG04184.hp1
HG04199.hp1
NA18747.hp2
NA18993.hp1
NA19010.hp2
NA19043.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*625dupA
c.*625dupA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 626 INFO_REALIGN_3_PRIME chr12 131944197
chr12:131944219 A
A
 C
C
 1 a0001c0001t0040
a0001c0001t0040
 1 HG01515.hp2
HG01515.hp2
 3_prime_UTR_variant MODIFIER c.*633A>C
c.*633A>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 633 chr12 131944219
chr12:131944310 T
T
 C
C
 1 a0001c0001t0009
a0001c0001t0009
 8 HG00741.hp2
HG01069.hp2
HG01071.hp1
others(5): Show 
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01978.hp1
HG06807.hp2
 3_prime_UTR_variant MODIFIER c.*724T>C
c.*724T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 724 chr12 131944310
chr12:131944355 A
A
 G
G
 1 a0001c0001t0039
a0001c0001t0039
 1 HG03130.hp2
HG03130.hp2
 3_prime_UTR_variant MODIFIER c.*769A>G
c.*769A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 769 chr12 131944355
chr12:131944387 G
G
 A
A
 1 a0001c0001t0026
a0001c0001t0026
 1 HG02559.hp1
HG02559.hp1
 3_prime_UTR_variant MODIFIER c.*801G>A
c.*801G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 801 chr12 131944387
chr12:131944417 G
G
 A
A
 1 a0001c0001t0018
a0001c0001t0018
 2 HG03831.hp2
NA20300.hp2
HG03831.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*831G>A
c.*831G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 831 chr12 131944417
chr12:131944428 C
C
 T
T
 1 a0001c0001t0005
a0001c0001t0005
 10 HG00735.hp2
HG00738.hp2
HG01069.hp1
others(7): Show 
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01168.hp2
HG03491.hp2
HG03669.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp1
HG04228.hp1
 3_prime_UTR_variant MODIFIER c.*842C>T
c.*842C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 842 chr12 131944428
chr12:131944468 T
T
 G
G
 44 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(41): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0009
a0001c0001t0010
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0003t0004
a0001c0004t0001
a0001c0005t0001
a0001c0011t0006
a0001c0012t0006
a0003c0006t0001
a0004c0008t0001
a0005c0010t0001
a0006c0009t0001
 311 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(308): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*882T>G
c.*882T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 882 chr12 131944468
chr12:131944495 G
G
 A
A
 1 a0001c0001t0019
a0001c0001t0019
 2 HG00733.hp1
HG01175.hp1
HG00733.hp1
HG01175.hp1
 3_prime_UTR_variant MODIFIER c.*909G>A
c.*909G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 909 chr12 131944495
chr12:131944542 C
C
 T
T
 1 a0002c0002t0011
a0002c0002t0011
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 3_prime_UTR_variant MODIFIER c.*956C>T
c.*956C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 956 chr12 131944542
chr12:131944545 C
C
 T
T
 1 a0001c0001t0044
a0001c0001t0044
 1 HG04184.hp1
HG04184.hp1
 3_prime_UTR_variant MODIFIER c.*959C>T
c.*959C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 959 chr12 131944545
chr12:131944600 C
C
 T
T
 1 a0001c0001t0022
a0001c0001t0022
 2 HG02735.hp2
HG04199.hp2
HG02735.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*1014C>T
c.*1014C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1014 chr12 131944600
chr12:131944619 C
C
 T
T
 1 a0001c0001t0046
a0001c0001t0046
 1 HG02970.hp1
HG02970.hp1
 3_prime_UTR_variant MODIFIER c.*1033C>T
c.*1033C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1033 chr12 131944619
chr12:131944666 G
G
 A
A
 1 a0002c0002t0011
a0002c0002t0011
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 3_prime_UTR_variant MODIFIER c.*1080G>A
c.*1080G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1080 chr12 131944666
chr12:131944847 G
G
 A
A
 1 a0001c0001t0027
a0001c0001t0027
 1 HG02896.hp2
HG02896.hp2
 3_prime_UTR_variant MODIFIER c.*1261G>A
c.*1261G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1261 chr12 131944847
chr12:131944896 C
C
 T
T
 6 a0001c0001t0003
a0001c0001t0008
a0001c0001t0014
others(3): Show 
a0001c0001t0003
a0001c0001t0008
a0001c0001t0014
a0001c0001t0036
a0001c0001t0039
a0001c0001t0044
 46 HG01081.hp2
HG01099.hp2
HG01123.hp1
others(43): Show 
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp2
HG01261.hp1
HG01433.hp2
HG01891.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp2
NA18995.hp1
NA19064.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1310C>T
c.*1310C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1310 chr12 131944896
chr12:131944954 G
G
 T
T
 16 a0001c0001t0002
a0001c0001t0006
a0001c0001t0016
others(13): Show 
a0001c0001t0002
a0001c0001t0006
a0001c0001t0016
a0001c0001t0017
a0001c0001t0024
a0001c0001t0026
a0001c0001t0027
a0001c0001t0036
a0001c0001t0038
a0001c0001t0039
a0001c0001t0041
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0011t0006
a0001c0012t0006
 68 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(65): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 3_prime_UTR_variant MODIFIER c.*1368G>T
c.*1368G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1368 chr12 131944954
chr12:131944956 G
G
 A
A
 2 a0001c0001t0010
a0001c0001t0028
a0001c0001t0010
a0001c0001t0028
 6 NA18944.hp1
NA18948.hp2
NA18956.hp2
others(3): Show 
NA18944.hp1
NA18948.hp2
NA18956.hp2
NA18984.hp2
NA19060.hp1
NA19075.hp2
 3_prime_UTR_variant MODIFIER c.*1370G>A
c.*1370G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1370 chr12 131944956
chr12:131945035 G
G
 A
A
 1 a0001c0001t0029
a0001c0001t0029
 1 HG03942.hp1
HG03942.hp1
 3_prime_UTR_variant MODIFIER c.*1449G>A
c.*1449G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1449 chr12 131945035
chr12:131945036 C
C
 T
T
 1 a0001c0001t0035
a0001c0001t0035
 1 HG02523.hp1
HG02523.hp1
 3_prime_UTR_variant MODIFIER c.*1450C>T
c.*1450C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1450 chr12 131945036
chr12:131945052 G
G
 A
A
 1 a0001c0001t0030
a0001c0001t0030
 1 HG00408.hp2
HG00408.hp2
 3_prime_UTR_variant MODIFIER c.*1466G>A
c.*1466G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1466 chr12 131945052
chr12:131945061 A
A
 G
G
 1 a0001c0001t0021
a0001c0001t0021
 2 NA18974.hp1
NA18975.hp1
NA18974.hp1
NA18975.hp1
 3_prime_UTR_variant MODIFIER c.*1475A>G
c.*1475A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1475 chr12 131945061
chr12:131945071 G
G
 A
A
 1 a0001c0001t0020
a0001c0001t0020
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 3_prime_UTR_variant MODIFIER c.*1485G>A
c.*1485G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1485 chr12 131945071
chr12:131945159 T
T
 C
C
 1 a0001c0001t0028
a0001c0001t0028
 1 NA18944.hp1
NA18944.hp1
 3_prime_UTR_variant MODIFIER c.*1573T>C
c.*1573T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1573 chr12 131945159
chr12:131945329 G
G
 A
A
 1 a0001c0001t0031
a0001c0001t0031
 1 HG01256.hp1
HG01256.hp1
 3_prime_UTR_variant MODIFIER c.*1743G>A
c.*1743G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1743 chr12 131945329
chr12:131945519 C
C
 T
T
 1 a0001c0001t0037
a0001c0001t0037
 1 HG02622.hp2
HG02622.hp2
 3_prime_UTR_variant MODIFIER c.*1933C>T
c.*1933C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 1933 chr12 131945519
chr12:131945590 G
G
 A
A
 1 a0001c0001t0038
a0001c0001t0038
 1 HG02257.hp2
HG02257.hp2
 3_prime_UTR_variant MODIFIER c.*2004G>A
c.*2004G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 2004 chr12 131945590
chr12:131945709 C
C
 T
T
 2 a0001c0001t0018
a0001c0001t0034
a0001c0001t0018
a0001c0001t0034
 3 HG02738.hp2
HG03831.hp2
NA20300.hp2
HG02738.hp2
HG03831.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2123C>T
c.*2123C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 2123 chr12 131945709
chr12:131945744 G
G
 A
A
 1 a0001c0001t0032
a0001c0001t0032
 1 HG03139.hp1
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*2158G>A
c.*2158G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 2158 chr12 131945744
chr12:131945786 C
C
 T
T
 1 a0001c0001t0045
a0001c0001t0045
 1 HG02809.hp1
HG02809.hp1
 3_prime_UTR_variant MODIFIER c.*2200C>T
c.*2200C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 2200 chr12 131945786
chr12:131945787 G
G
 A
A
 1 a0001c0001t0033
a0001c0001t0033
 1 NA19011.hp2
NA19011.hp2
 3_prime_UTR_variant MODIFIER c.*2201G>A
c.*2201G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 6/6 2201 chr12 131945787

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
chr12:131929830 C
C
 G
G
 5 a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0155
others(2): Show 
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0007t0007g0156
 13 HG01891.hp2
HG02145.hp1
HG02451.hp2
others(10): Show 
HG01891.hp2
HG02145.hp1
HG02451.hp2
HG02486.hp2
HG02717.hp1
HG02723.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
NA18906.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.74+34C>G
c.74+34C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 1/5 chr12 131929830
chr12:131929844 C
C
 CCCACCCC
others(3): Show 
CCCACCCCAGT
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.75-55_75-46dupAGTC
others(6): Show 
c.75-55_75-46dupAGTCCACCCC
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 1/5 INFO_REALIGN_3_PRIME chr12 131929844
chr12:131929887 C
C
 T
T
 1 a0001c0001t0038g0154
a0001c0001t0038g0154
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.75-20C>T
c.75-20C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 1/5 chr12 131929887
chr12:131930224 G
G
 T
T
 140 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(137): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0038g0154
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0004t0001g0001
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 282 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(279): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+89G>T
c.303+89G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930224
chr12:131930381 G
G
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.303+246G>A
c.303+246G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930381
chr12:131930441 A
A
 G
G
 4 a0001c0001t0006g0153
a0001c0001t0012g0008
a0001c0001t0012g0152
others(1): Show 
a0001c0001t0006g0153
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
 10 HG02109.hp1
HG02258.hp2
HG02559.hp2
others(7): Show 
HG02109.hp1
HG02258.hp2
HG02559.hp2
HG02630.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.303+306A>G
c.303+306A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930441
chr12:131930492 G
G
 A
A
 2 a0001c0001t0003g0046
a0001c0001t0006g0047
a0001c0001t0003g0046
a0001c0001t0006g0047
 2 HG02647.hp2
NA19030.hp1
HG02647.hp2
NA19030.hp1
 intron_variant MODIFIER c.303+357G>A
c.303+357G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930492
chr12:131930643 G
G
 C
C
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 5 NA18944.hp2
NA18987.hp1
NA18995.hp2
others(2): Show 
NA18944.hp2
NA18987.hp1
NA18995.hp2
NA18999.hp2
NA19079.hp2
 intron_variant MODIFIER c.303+508G>C
c.303+508G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930643
chr12:131930900 C
C
 T
T
 15 a0001c0001t0003g0007
a0001c0001t0003g0043
a0001c0001t0003g0141
others(12): Show 
a0001c0001t0003g0007
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0017g0042
 23 HG01934.hp1
HG02258.hp1
HG02451.hp1
others(20): Show 
HG01934.hp1
HG02258.hp1
HG02451.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
NA18906.hp1
NA18966.hp2
NA18995.hp1
NA19064.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.303+765C>T
c.303+765C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131930900
chr12:131931011 C
C
 T
T
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.303+876C>T
c.303+876C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931011
chr12:131931012 G
G
 A
A
 60 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(57): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0038g0154
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
 114 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(111): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+877G>A
c.303+877G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931012
chr12:131931059 A
A
 G
G
 1 a0002c0002t0011g0138
a0002c0002t0011g0138
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.303+924A>G
c.303+924A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931059
chr12:131931240 C
C
 G
G
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.304-935C>G
c.304-935C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931240
chr12:131931396 G
G
 T
T
 2 a0001c0001t0003g0043
a0001c0001t0003g0151
a0001c0001t0003g0043
a0001c0001t0003g0151
 3 HG02258.hp1
HG02723.hp1
HG03486.hp2
HG02258.hp1
HG02723.hp1
HG03486.hp2
 intron_variant MODIFIER c.304-779G>T
c.304-779G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931396
chr12:131931478 C
C
 G
G
 1 a0001c0001t0014g0150
a0001c0001t0014g0150
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.304-697C>G
c.304-697C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931478
chr12:131931520 T
T
 G
G
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.304-655T>G
c.304-655T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931520
chr12:131931586 C
C
 T
T
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.304-589C>T
c.304-589C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931586
chr12:131931815 G
G
 A
A
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.304-360G>A
c.304-360G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131931815
chr12:131932088 C
C
 T
T
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.304-87C>T
c.304-87C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 2/5 chr12 131932088
chr12:131932420 G
G
 A
A
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.441+108G>A
c.441+108G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932420
chr12:131932422 A
A
 G
G
 1 a0001c0001t0002g0089
a0001c0001t0002g0089
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.441+110A>G
c.441+110A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932422
chr12:131932828 G
G
 A
A
 2 a0001c0001t0003g0046
a0001c0001t0006g0047
a0001c0001t0003g0046
a0001c0001t0006g0047
 2 HG02647.hp2
NA19030.hp1
HG02647.hp2
NA19030.hp1
 intron_variant MODIFIER c.441+516G>A
c.441+516G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932828
chr12:131932842 A
A
 G
G
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.441+530A>G
c.441+530A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932842
chr12:131932865 T
T
 G
G
 2 a0001c0001t0003g0046
a0001c0001t0006g0047
a0001c0001t0003g0046
a0001c0001t0006g0047
 2 HG02647.hp2
NA19030.hp1
HG02647.hp2
NA19030.hp1
 intron_variant MODIFIER c.441+553T>G
c.441+553T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932865
chr12:131932906 G
G
 A
A
 7 a0001c0001t0001g0006
a0001c0001t0001g0034
a0001c0001t0001g0092
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0034
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
 16 HG00140.hp1
HG01070.hp2
HG01074.hp1
others(13): Show 
HG00140.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01993.hp2
HG02300.hp1
HG03239.hp2
HG03654.hp1
HG03834.hp2
 intron_variant MODIFIER c.441+594G>A
c.441+594G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932906
chr12:131932984 G
G
 C
C
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.441+672G>C
c.441+672G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131932984
chr12:131933062 C
C
 T
T
 1 a0001c0001t0002g0031
a0001c0001t0002g0031
 2 NA18993.hp2
NA19010.hp1
NA18993.hp2
NA19010.hp1
 intron_variant MODIFIER c.441+750C>T
c.441+750C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933062
chr12:131933064 G
G
 A
A
 1 a0001c0001t0038g0154
a0001c0001t0038g0154
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.441+752G>A
c.441+752G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933064
chr12:131933173 G
G
 A
A
 1 a0001c0001t0005g0097
a0001c0001t0005g0097
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.441+861G>A
c.441+861G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933173
chr12:131933195 A
A
 AT
AT
 8 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0136
others(5): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0136
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0003g0149
a0001c0001t0015g0086
a0001c0001t0020g0135
 8 HG01074.hp2
HG02572.hp2
HG02647.hp1
others(5): Show 
HG01074.hp2
HG02572.hp2
HG02647.hp1
HG03831.hp1
NA18991.hp2
NA18998.hp1
NA19030.hp2
NA19087.hp1
 intron_variant MODIFIER c.441+904dupT
c.441+904dupT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131933195
chr12:131933195 AT
AT
 A
A
 47 a0001c0001t0001g0001
a0001c0001t0001g0019
a0001c0001t0001g0035
others(44): Show 
a0001c0001t0001g0001
a0001c0001t0001g0019
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0049
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0008g0014
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0152
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0023g0010
a0001c0001t0028g0001
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0004t0001g0001
a0002c0002t0011g0090
a0004c0008t0001g0001
a0006c0009t0001g0001
 107 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(104): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01928.hp2
HG01943.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02056.hp1
HG02129.hp2
HG02165.hp2
HG02293.hp1
HG02523.hp1
HG02735.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18966.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA19000.hp1
NA19009.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19075.hp1
NA19075.hp2
NA19086.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+904delT
c.441+904delT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131933195
chr12:131933195 ATT
ATT
 A
A
 3 a0001c0001t0001g0017
a0001c0001t0001g0098
a0001c0001t0008g0025
a0001c0001t0001g0017
a0001c0001t0001g0098
a0001c0001t0008g0025
 6 HG01070.hp1
HG01952.hp2
HG01975.hp1
others(3): Show 
HG01070.hp1
HG01952.hp2
HG01975.hp1
HG02300.hp2
NA19004.hp1
NA19089.hp2
 intron_variant MODIFIER c.441+903_441+904del
others(2): Show 
c.441+903_441+904delTT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131933195
chr12:131933286 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.441+974G>A
c.441+974G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933286
chr12:131933297 C
C
 G
G
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.441+985C>G
c.441+985C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933297
chr12:131933507 G
G
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.441+1195G>C
c.441+1195G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933507
chr12:131933651 T
T
 G
G
 1 a0001c0001t0018g0048
a0001c0001t0018g0048
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.441+1339T>G
c.441+1339T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933651
chr12:131933876 G
G
 A
A
 19 a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
others(16): Show 
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0007t0007g0156
 34 HG01891.hp2
HG01934.hp1
HG02145.hp1
others(31): Show 
HG01891.hp2
HG01934.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
NA18906.hp1
NA18906.hp2
NA18966.hp2
NA18995.hp1
NA19064.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.441+1564G>A
c.441+1564G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933876
chr12:131933878 A
A
 G
G
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.441+1566A>G
c.441+1566A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933878
chr12:131933938 A
A
 T
T
 2 a0001c0001t0001g0115
a0001c0001t0001g0134
a0001c0001t0001g0115
a0001c0001t0001g0134
 2 NA18948.hp1
NA18998.hp2
NA18948.hp1
NA18998.hp2
 intron_variant MODIFIER c.441+1626A>T
c.441+1626A>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933938
chr12:131933953 T
T
 C
C
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.441+1641T>C
c.441+1641T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131933953
chr12:131934103 A
A
 G
G
 3 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0133
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0133
 8 HG00423.hp2
HG02135.hp1
NA18944.hp2
others(5): Show 
HG00423.hp2
HG02135.hp1
NA18944.hp2
NA18962.hp2
NA18987.hp1
NA18995.hp2
NA18999.hp2
NA19079.hp2
 intron_variant MODIFIER c.441+1791A>G
c.441+1791A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934103
chr12:131934170 G
G
 C
C
 1 a0001c0001t0038g0154
a0001c0001t0038g0154
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.441+1858G>C
c.441+1858G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934170
chr12:131934229 C
C
 T
T
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.441+1917C>T
c.441+1917C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934229
chr12:131934350 G
G
 A
A
 2 a0001c0001t0001g0039
a0001c0001t0001g0116
a0001c0001t0001g0039
a0001c0001t0001g0116
 3 HG01515.hp1
HG01943.hp2
HG03834.hp1
HG01515.hp1
HG01943.hp2
HG03834.hp1
 intron_variant MODIFIER c.441+2038G>A
c.441+2038G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934350
chr12:131934357 C
C
 T
T
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.441+2045C>T
c.441+2045C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934357
chr12:131934506 T
T
 C
C
 1 a0001c0001t0029g0052
a0001c0001t0029g0052
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.441+2194T>C
c.441+2194T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934506
chr12:131934514 A
A
 T
T
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.441+2202A>T
c.441+2202A>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934514
chr12:131934578 T
T
 C
C
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.441+2266T>C
c.441+2266T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934578
chr12:131934599 A
A
 G
G
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.441+2287A>G
c.441+2287A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934599
chr12:131934612 C
C
 T
T
 139 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0038g0154
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0004t0001g0001
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 278 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(275): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+2300C>T
c.441+2300C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934612
chr12:131934646 C
C
 T
T
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.441+2334C>T
c.441+2334C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934646
chr12:131934656 G
G
 T
T
 1 a0001c0001t0002g0031
a0001c0001t0002g0031
 2 NA18993.hp2
NA19010.hp1
NA18993.hp2
NA19010.hp1
 intron_variant MODIFIER c.441+2344G>T
c.441+2344G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934656
chr12:131934756 G
G
 A
A
 1 a0001c0001t0003g0141
a0001c0001t0003g0141
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.441+2444G>A
c.441+2444G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934756
chr12:131934796 C
C
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.441+2484C>A
c.441+2484C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934796
chr12:131934799 C
C
 G
G
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.441+2487C>G
c.441+2487C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934799
chr12:131934939 CA
CA
 C
C
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.441+2631delA
c.441+2631delA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131934939
chr12:131934963 A
A
 T
T
 75 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(72): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0015g0085
a0001c0001t0016g0041
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0025g0004
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0001t0042g0004
a0001c0004t0001g0001
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 159 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18963.hp2
NA18967.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+2651A>T
c.441+2651A>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934963
chr12:131934988 C
C
 T
T
 45 a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
others(42): Show 
a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0021g0013
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0033g0002
a0001c0001t0036g0064
a0001c0001t0039g0063
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0005t0001g0005
a0005c0010t0001g0005
 100 HG00408.hp2
HG00423.hp1
HG00423.hp2
others(97): Show 
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01109.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01358.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02922.hp1
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03831.hp1
HG03942.hp1
HG06807.hp2
NA18747.hp2
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19060.hp2
NA19066.hp1
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA20805.hp2
 intron_variant MODIFIER c.441+2676C>T
c.441+2676C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131934988
chr12:131934998 G
G
 GGAGAACA
others(34): Show 
GGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT
 3 a0001c0001t0015g0073
a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0001t0015g0073
a0001c0011t0006g0140
a0001c0012t0006g0139
 3 HG02970.hp2
HG04115.hp2
NA18522.hp2
HG02970.hp2
HG04115.hp2
NA18522.hp2
 intron_variant MODIFIER c.441+2852_441+2892d
others(43): Show 
c.441+2852_441+2892dupAGAACACAAAGAGGGATCCACAAGTTCA
CTCCTAGTGGGTG
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131934998
chr12:131934998 GGAGAACA
others(34): Show 
GGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT
 G
G
 7 a0001c0001t0001g0006
a0001c0001t0001g0034
a0001c0001t0001g0092
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0034
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0034g0113
 16 HG00140.hp1
HG01070.hp2
HG01074.hp1
others(13): Show 
HG00140.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp2
HG01257.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01993.hp2
HG02300.hp1
HG02738.hp2
HG03239.hp2
HG03654.hp1
HG03834.hp2
 intron_variant MODIFIER c.441+2852_441+2892d
others(43): Show 
c.441+2852_441+2892delAGAACACAAAGAGGGATCCACAAGTTCA
CTCCTAGTGGGTG
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131934998
chr12:131935077 G
G
 A
A
 1 a0001c0001t0014g0143
a0001c0001t0014g0143
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.441+2765G>A
c.441+2765G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935077
chr12:131935088 CAA
CAA
 C
C
 3 a0001c0001t0003g0141
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0141
a0001c0001t0003g0147
a0001c0001t0003g0148
 3 NA18966.hp2
NA18995.hp1
NA19064.hp1
NA18966.hp2
NA18995.hp1
NA19064.hp1
 intron_variant MODIFIER c.441+2778_441+2779d
others(4): Show 
c.441+2778_441+2779delAA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131935088
chr12:131935204 G
G
 C
C
 2 a0001c0001t0001g0119
a0001c0001t0019g0040
a0001c0001t0001g0119
a0001c0001t0019g0040
 3 HG00733.hp1
HG01175.hp1
HG03195.hp2
HG00733.hp1
HG01175.hp1
HG03195.hp2
 intron_variant MODIFIER c.441+2892G>C
c.441+2892G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935204
chr12:131935458 T
T
 G
G
 187 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(184): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 381 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(378): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+3146T>G
c.441+3146T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935458
chr12:131935464 G
G
 A
A
 75 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(72): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0015g0085
a0001c0001t0016g0041
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0025g0004
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0001t0042g0004
a0001c0004t0001g0001
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 159 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18963.hp2
NA18967.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+3152G>A
c.441+3152G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935464
chr12:131935556 C
C
 T
T
 5 a0001c0001t0002g0012
a0001c0001t0002g0027
a0001c0001t0002g0084
others(2): Show 
a0001c0001t0002g0012
a0001c0001t0002g0027
a0001c0001t0002g0084
a0001c0001t0002g0088
a0001c0001t0043g0012
 9 NA18956.hp1
NA18960.hp1
NA18991.hp2
others(6): Show 
NA18956.hp1
NA18960.hp1
NA18991.hp2
NA19007.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 intron_variant MODIFIER c.441+3244C>T
c.441+3244C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935556
chr12:131935582 T
T
 C
C
 1 a0001c0001t0001g0100
a0001c0001t0001g0100
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.441+3270T>C
c.441+3270T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935582
chr12:131935589 C
C
 T
T
 1 a0001c0001t0001g0112
a0001c0001t0001g0112
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.441+3277C>T
c.441+3277C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935589
chr12:131935684 T
T
 C
C
 139 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0038g0154
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0004t0001g0001
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 278 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(275): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441+3372T>C
c.441+3372T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935684
chr12:131935758 C
C
 G
G
 1 a0001c0001t0001g0115
a0001c0001t0001g0115
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.442-3415C>G
c.442-3415C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935758
chr12:131935773 T
T
 C
C
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.442-3400T>C
c.442-3400T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935773
chr12:131935858 TTTCTGCT
others(1): Show 
TTTCTGCTG
 T
T
 6 a0001c0001t0001g0005
a0001c0001t0001g0067
a0001c0001t0001g0068
others(3): Show 
a0001c0001t0001g0005
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0005t0001g0005
a0005c0010t0001g0005
 14 HG02015.hp2
HG02040.hp1
HG02071.hp2
others(11): Show 
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02135.hp2
HG03490.hp1
HG03492.hp2
NA18953.hp1
NA18960.hp2
NA18966.hp1
NA18967.hp1
NA18999.hp1
NA19000.hp2
NA19089.hp1
 intron_variant MODIFIER c.442-3312_442-3305d
others(10): Show 
c.442-3312_442-3305delCTGCTGTT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131935858
chr12:131935901 T
T
 C
C
 2 a0001c0001t0006g0028
a0001c0001t0027g0028
a0001c0001t0006g0028
a0001c0001t0027g0028
 2 HG02809.hp2
HG02896.hp2
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.442-3272T>C
c.442-3272T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935901
chr12:131935936 C
C
 T
T
 1 a0001c0001t0032g0131
a0001c0001t0032g0131
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.442-3237C>T
c.442-3237C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131935936
chr12:131936210 C
C
 CA
CA
 7 a0001c0001t0001g0101
a0001c0001t0002g0084
a0001c0001t0008g0074
others(4): Show 
a0001c0001t0001g0101
a0001c0001t0002g0084
a0001c0001t0008g0074
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 8 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(5): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
HG04199.hp1
NA18952.hp2
NA18956.hp1
NA18987.hp2
NA19080.hp2
 intron_variant MODIFIER c.442-2951dupA
c.442-2951dupA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936210
chr12:131936245 C
C
 T
T
 4 a0001c0001t0006g0153
a0001c0001t0012g0008
a0001c0001t0012g0152
others(1): Show 
a0001c0001t0006g0153
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
 10 HG02109.hp1
HG02258.hp2
HG02559.hp2
others(7): Show 
HG02109.hp1
HG02258.hp2
HG02559.hp2
HG02630.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.442-2928C>T
c.442-2928C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936245
chr12:131936263 A
A
 G
G
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.442-2910A>G
c.442-2910A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936263
chr12:131936313 A
A
 G
G
 45 a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
others(42): Show 
a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0021g0013
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0033g0002
a0001c0001t0036g0064
a0001c0001t0039g0063
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0005t0001g0005
a0005c0010t0001g0005
 100 HG00408.hp2
HG00423.hp1
HG00423.hp2
others(97): Show 
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01109.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01358.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02922.hp1
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03831.hp1
HG03942.hp1
HG06807.hp2
NA18747.hp2
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19060.hp2
NA19066.hp1
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA20805.hp2
 intron_variant MODIFIER c.442-2860A>G
c.442-2860A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936313
chr12:131936381 G
G
 A
A
 1 a0001c0001t0003g0043
a0001c0001t0003g0043
 2 HG02258.hp1
HG03486.hp2
HG02258.hp1
HG03486.hp2
 intron_variant MODIFIER c.442-2792G>A
c.442-2792G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936381
chr12:131936433 C
C
 CACACCTG
others(1): Show 
CACACCTGT
 2 a0001c0001t0001g0036
a0001c0001t0008g0075
a0001c0001t0001g0036
a0001c0001t0008g0075
 3 HG00280.hp2
HG01099.hp2
NA20129.hp2
HG00280.hp2
HG01099.hp2
NA20129.hp2
 intron_variant MODIFIER c.442-2738_442-2737i
others(10): Show 
c.442-2738_442-2737insACCTGTAC
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936433
chr12:131936433 C
C
 CACGCCTG
others(1): Show 
CACGCCTGT
 128 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(125): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0038g0154
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0004t0001g0001
a0001c0007t0007g0156
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 260 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(257): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.442-2738_442-2731d
others(10): Show 
c.442-2738_442-2731dupCGCCTGTA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936433
chr12:131936517 C
C
 T
T
 1 a0002c0002t0011g0091
a0002c0002t0011g0091
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.442-2656C>T
c.442-2656C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936517
chr12:131936529 C
C
 T
T
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.442-2644C>T
c.442-2644C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936529
chr12:131936565 AAAAAC
AAAAAC
 A
A
 56 a0001c0001t0001g0069
a0001c0001t0002g0003
a0001c0001t0002g0012
others(53): Show 
a0001c0001t0001g0069
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0038g0154
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
 105 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(102): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.442-2593_442-2589d
others(7): Show 
c.442-2593_442-2589delCAAAA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936565
chr12:131936663 C
C
 T
T
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.442-2510C>T
c.442-2510C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936663
chr12:131936734 C
C
 A
A
 28 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(25): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
 62 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(59): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01261.hp1
HG01433.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.442-2439C>A
c.442-2439C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936734
chr12:131936796 G
G
 C
C
 185 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(182): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 379 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(376): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.442-2377G>C
c.442-2377G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936796
chr12:131936796 G
G
 T
T
 1 a0001c0001t0003g0146
a0001c0001t0003g0146
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.442-2377G>T
c.442-2377G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936796
chr12:131936820 C
C
 T
T
 54 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(51): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
 103 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(100): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.442-2353C>T
c.442-2353C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936820
chr12:131936837 C
C
 T
T
 2 a0001c0001t0001g0039
a0001c0001t0001g0116
a0001c0001t0001g0039
a0001c0001t0001g0116
 3 HG01515.hp1
HG01943.hp2
HG03834.hp1
HG01515.hp1
HG01943.hp2
HG03834.hp1
 intron_variant MODIFIER c.442-2336C>T
c.442-2336C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936837
chr12:131936866 C
C
 CA
CA
 10 a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0056
others(7): Show 
a0001c0001t0001g0037
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0102
a0001c0001t0001g0121
a0001c0001t0003g0046
a0001c0001t0006g0047
a0001c0001t0010g0103
 11 HG01070.hp1
HG01257.hp2
HG02647.hp2
others(8): Show 
HG01070.hp1
HG01257.hp2
HG02647.hp2
HG04184.hp2
NA18947.hp2
NA18953.hp2
NA18983.hp1
NA18984.hp1
NA19030.hp1
NA19058.hp2
NA19075.hp2
 intron_variant MODIFIER c.442-2293dupA
c.442-2293dupA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936866
chr12:131936866 CA
CA
 C
C
 64 a0001c0001t0001g0129
a0001c0001t0002g0003
a0001c0001t0002g0012
others(61): Show 
a0001c0001t0001g0129
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0012g0152
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 119 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(116): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18952.hp2
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.442-2293delA
c.442-2293delA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131936866
chr12:131936942 A
A
 G
G
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.442-2231A>G
c.442-2231A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131936942
chr12:131937073 C
C
 CTTTGAAA
others(4): Show 
CTTTGAAATCTG
 1 a0001c0001t0010g0103
a0001c0001t0010g0103
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.442-2097_442-2087d
others(13): Show 
c.442-2097_442-2087dupTGAAATCTGTT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131937073
chr12:131937125 G
G
 A
A
 55 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(52): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0038g0154
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
 104 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(101): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.442-2048G>A
c.442-2048G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937125
chr12:131937168 C
C
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.442-2005C>T
c.442-2005C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937168
chr12:131937406 C
C
 T
T
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.442-1767C>T
c.442-1767C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937406
chr12:131937482 C
C
 T
T
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.442-1691C>T
c.442-1691C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937482
chr12:131937603 C
C
 T
T
 3 a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
 3 HG01884.hp2
HG02895.hp2
HG02897.hp1
HG01884.hp2
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.442-1570C>T
c.442-1570C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937603
chr12:131937665 C
C
 T
T
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.442-1508C>T
c.442-1508C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937665
chr12:131937699 T
T
 G
G
 77 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(74): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0015g0085
a0001c0001t0016g0041
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0025g0004
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0001t0042g0004
a0001c0004t0001g0001
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 165 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18963.hp2
NA18967.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.442-1474T>G
c.442-1474T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937699
chr12:131937851 T
T
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.442-1322T>C
c.442-1322T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937851
chr12:131937887 A
A
 G
G
 2 a0001c0011t0006g0140
a0001c0012t0006g0139
a0001c0011t0006g0140
a0001c0012t0006g0139
 2 HG02970.hp2
NA18522.hp2
HG02970.hp2
NA18522.hp2
 intron_variant MODIFIER c.442-1286A>G
c.442-1286A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937887
chr12:131937954 A
A
 G
G
 2 a0001c0001t0001g0102
a0001c0001t0001g0132
a0001c0001t0001g0102
a0001c0001t0001g0132
 2 NA18953.hp2
NA19080.hp1
NA18953.hp2
NA19080.hp1
 intron_variant MODIFIER c.442-1219A>G
c.442-1219A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131937954
chr12:131938010 C
C
 G
G
 1 a0001c0001t0015g0085
a0001c0001t0015g0085
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.442-1163C>G
c.442-1163C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938010
chr12:131938087 G
G
 T
T
 2 a0001c0001t0003g0046
a0001c0001t0006g0047
a0001c0001t0003g0046
a0001c0001t0006g0047
 2 HG02647.hp2
NA19030.hp1
HG02647.hp2
NA19030.hp1
 intron_variant MODIFIER c.442-1086G>T
c.442-1086G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938087
chr12:131938152 C
C
 T
T
 1 a0001c0001t0002g0031
a0001c0001t0002g0031
 2 NA18993.hp2
NA19010.hp1
NA18993.hp2
NA19010.hp1
 intron_variant MODIFIER c.442-1021C>T
c.442-1021C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938152
chr12:131938173 G
G
 A
A
 74 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(71): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0015g0085
a0001c0001t0016g0041
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0025g0004
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0001t0042g0004
a0001c0004t0001g0001
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 157 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(154): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18963.hp2
NA18967.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.442-1000G>A
c.442-1000G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938173
chr12:131938174 T
T
 C
C
 2 a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0098
a0001c0001t0001g0104
 2 HG01070.hp1
HG01071.hp2
HG01070.hp1
HG01071.hp2
 intron_variant MODIFIER c.442-999T>C
c.442-999T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938174
chr12:131938633 G
G
 A
A
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.442-540G>A
c.442-540G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938633
chr12:131938662 G
G
 A
A
 1 a0001c0003t0004g0057
a0001c0003t0004g0057
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.442-511G>A
c.442-511G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938662
chr12:131938716 CT
CT
 C
C
 181 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 374 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(371): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.442-439delT
c.442-439delT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 INFO_REALIGN_3_PRIME chr12 131938716
chr12:131938734 T
T
 C
C
 1 a0001c0001t0005g0097
a0001c0001t0005g0097
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.442-439T>C
c.442-439T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938734
chr12:131938866 C
C
 T
T
 3 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0023g0010
 8 HG01167.hp1
HG01169.hp2
HG02965.hp2
others(5): Show 
HG01167.hp1
HG01169.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.442-307C>T
c.442-307C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938866
chr12:131938882 C
C
 T
T
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.442-291C>T
c.442-291C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938882
chr12:131938977 G
G
 A
A
 5 a0001c0001t0007g0118
a0002c0002t0011g0033
a0002c0002t0011g0090
others(2): Show 
a0001c0001t0007g0118
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 6 HG01891.hp1
HG02056.hp2
HG02735.hp1
others(3): Show 
HG01891.hp1
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.442-196G>A
c.442-196G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131938977
chr12:131939003 A
A
 G
G
 3 a0001c0001t0001g0013
a0001c0001t0001g0071
a0001c0001t0021g0013
a0001c0001t0001g0013
a0001c0001t0001g0071
a0001c0001t0021g0013
 5 NA18947.hp1
NA18973.hp2
NA18974.hp1
others(2): Show 
NA18947.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18998.hp1
 intron_variant MODIFIER c.442-170A>G
c.442-170A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131939003
chr12:131939096 T
T
 A
A
 3 a0001c0001t0006g0030
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0006g0030
a0001c0001t0024g0081
a0001c0001t0026g0030
 3 HG02559.hp1
HG02630.hp2
HG03453.hp2
HG02559.hp1
HG02630.hp2
HG03453.hp2
 intron_variant MODIFIER c.442-77T>A
c.442-77T>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 3/5 chr12 131939096
chr12:131939348 T
T
 C
C
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.544+73T>C
c.544+73T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939348
chr12:131939373 T
T
 C
C
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.544+98T>C
c.544+98T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939373
chr12:131939382 G
G
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0022
a0001c0001t0001g0056
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0022
a0001c0001t0001g0056
a0001c0001t0001g0066
 7 HG00621.hp2
HG02027.hp2
NA18940.hp1
others(4): Show 
HG00621.hp2
HG02027.hp2
NA18940.hp1
NA18990.hp2
NA19011.hp1
NA19058.hp2
NA19087.hp2
 intron_variant MODIFIER c.544+107G>T
c.544+107G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939382
chr12:131939728 C
C
 T
T
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.544+453C>T
c.544+453C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939728
chr12:131939812 T
T
 G
G
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.544+537T>G
c.544+537T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939812
chr12:131939841 G
G
 T
T
 54 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(51): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0038g0154
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0007t0007g0156
 103 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(100): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18966.hp2
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.544+566G>T
c.544+566G>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939841
chr12:131939972 T
T
 C
C
 75 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(72): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0015g0085
a0001c0001t0016g0041
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0025g0004
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0040g0001
a0001c0001t0042g0004
a0001c0004t0001g0001
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 159 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18963.hp2
NA18967.hp2
NA18971.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.544+697T>C
c.544+697T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939972
chr12:131939998 C
C
 A
A
 1 a0001c0001t0003g0155
a0001c0001t0003g0155
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.544+723C>A
c.544+723C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131939998
chr12:131940016 G
G
 A
A
 2 a0001c0001t0001g0036
a0001c0001t0001g0106
a0001c0001t0001g0036
a0001c0001t0001g0106
 3 HG00280.hp2
NA20129.hp2
NA20805.hp1
HG00280.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.544+741G>A
c.544+741G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940016
chr12:131940092 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.544+817G>A
c.544+817G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940092
chr12:131940155 A
A
 G
G
 46 a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
others(43): Show 
a0001c0001t0001g0002
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0021g0013
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0033g0002
a0001c0001t0036g0064
a0001c0001t0039g0063
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0005t0001g0005
a0005c0010t0001g0005
 102 HG00408.hp2
HG00423.hp1
HG00423.hp2
others(99): Show 
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01109.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02922.hp1
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03831.hp1
HG03942.hp1
HG06807.hp2
NA18747.hp2
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19060.hp2
NA19066.hp1
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA20805.hp2
 intron_variant MODIFIER c.544+880A>G
c.544+880A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940155
chr12:131940190 G
G
 A
A
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.544+915G>A
c.544+915G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940190
chr12:131940380 G
G
 C
C
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.545-912G>C
c.545-912G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940380
chr12:131940399 T
T
 C
C
 28 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(25): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0015g0073
a0001c0001t0015g0086
a0001c0001t0017g0042
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
 62 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(59): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01261.hp1
HG01433.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.545-893T>C
c.545-893T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940399
chr12:131940401 C
C
 T
T
 5 a0001c0001t0038g0154
a0002c0002t0011g0033
a0002c0002t0011g0090
others(2): Show 
a0001c0001t0038g0154
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 6 HG02056.hp2
HG02257.hp2
HG02735.hp1
others(3): Show 
HG02056.hp2
HG02257.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.545-891C>T
c.545-891C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940401
chr12:131940589 A
A
 T
T
 1 a0001c0001t0018g0048
a0001c0001t0018g0048
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.545-703A>T
c.545-703A>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940589
chr12:131940628 A
A
 C
C
 1 a0001c0001t0002g0078
a0001c0001t0002g0078
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.545-664A>C
c.545-664A>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940628
chr12:131940903 A
A
 G
G
 132 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0065
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0022g0004
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0038g0154
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0004t0001g0001
a0001c0007t0007g0156
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0006c0009t0001g0001
 268 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(265): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.545-389A>G
c.545-389A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940903
chr12:131940964 A
A
 C
C
 180 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(177): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 368 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(365): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
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
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.545-328A>C
c.545-328A>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131940964
chr12:131941050 C
C
 G
G
 2 a0001c0001t0006g0028
a0001c0001t0027g0028
a0001c0001t0006g0028
a0001c0001t0027g0028
 2 HG02809.hp2
HG02896.hp2
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.545-242C>G
c.545-242C>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131941050
chr12:131941216 G
G
 A
A
 1 a0001c0001t0007g0118
a0001c0001t0007g0118
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.545-76G>A
c.545-76G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131941216
chr12:131941245 A
A
 G
G
 21 a0001c0001t0001g0119
a0001c0001t0001g0126
a0001c0001t0002g0077
others(18): Show 
a0001c0001t0001g0119
a0001c0001t0001g0126
a0001c0001t0002g0077
a0001c0001t0002g0087
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0157
a0001c0001t0006g0028
a0001c0001t0006g0047
a0001c0001t0007g0118
a0001c0001t0014g0007
a0001c0001t0017g0042
a0001c0001t0019g0040
a0001c0001t0027g0028
a0001c0001t0036g0064
 29 HG00733.hp1
HG01175.hp1
HG01891.hp1
others(26): Show 
HG00733.hp1
HG01175.hp1
HG01891.hp1
HG01934.hp1
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03540.hp2
NA18906.hp1
NA18966.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19240.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.545-47A>G
c.545-47A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 chr12 131941245
chr12:131941248 C
C
 CA
CA
 5 a0001c0001t0007g0010
a0001c0001t0023g0010
a0001c0001t0024g0081
others(2): Show 
a0001c0001t0007g0010
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0041g0082
a0001c0007t0007g0156
 9 HG01243.hp1
HG02630.hp2
HG02965.hp2
others(6): Show 
HG01243.hp1
HG02630.hp2
HG02965.hp2
HG02976.hp2
HG03225.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.545-43dupA
c.545-43dupA
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 4/5 INFO_REALIGN_3_PRIME chr12 131941248
chr12:131942005 T
T
 G
G
 2 a0001c0001t0007g0118
a0001c0007t0007g0156
a0001c0001t0007g0118
a0001c0007t0007g0156
 2 HG01891.hp1
HG03225.hp1
HG01891.hp1
HG03225.hp1
 intron_variant MODIFIER c.1236+22T>G
c.1236+22T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942005
chr12:131942054 G
G
 C
C
 1 a0001c0001t0019g0040
a0001c0001t0019g0040
 2 HG00733.hp1
HG01175.hp1
HG00733.hp1
HG01175.hp1
 intron_variant MODIFIER c.1236+71G>C
c.1236+71G>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942054
chr12:131942085 G
G
 A
A
 1 a0001c0001t0001g0022
a0001c0001t0001g0022
 2 NA18990.hp2
NA19087.hp2
NA18990.hp2
NA19087.hp2
 intron_variant MODIFIER c.1236+102G>A
c.1236+102G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942085
chr12:131942086 C
C
 A
A
 4 a0001c0001t0002g0015
a0001c0001t0002g0083
a0001c0001t0016g0041
others(1): Show 
a0001c0001t0002g0015
a0001c0001t0002g0083
a0001c0001t0016g0041
a0001c0001t0045g0015
 7 HG01934.hp2
HG02055.hp1
HG02055.hp2
others(4): Show 
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02809.hp1
HG02886.hp1
HG02965.hp1
 intron_variant MODIFIER c.1236+103C>A
c.1236+103C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942086
chr12:131942092 C
C
 A
A
 1 a0001c0001t0010g0103
a0001c0001t0010g0103
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.1236+109C>A
c.1236+109C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942092
chr12:131942163 T
T
 G
G
 1 a0001c0001t0002g0076
a0001c0001t0002g0076
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.1236+180T>G
c.1236+180T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942163
chr12:131942175 G
G
 A
A
 1 a0001c0007t0007g0156
a0001c0007t0007g0156
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1236+192G>A
c.1236+192G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942175
chr12:131942407 C
C
 CT
CT
 39 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(36): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0145
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0015g0073
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0036g0064
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0011t0006g0140
a0001c0012t0006g0139
 70 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(67): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 intron_variant MODIFIER c.1236+434dupT
c.1236+434dupT
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 131942407
chr12:131942437 T
T
 C
C
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1236+454T>C
c.1236+454T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942437
chr12:131942439 T
T
 C
C
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1236+456T>C
c.1236+456T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942439
chr12:131942446 A
A
 G
G
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1236+463A>G
c.1236+463A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942446
chr12:131942467 C
C
 T
T
 5 a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
others(2): Show 
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0023g0010
a0001c0007t0007g0156
 10 HG01167.hp1
HG01169.hp2
HG01891.hp1
others(7): Show 
HG01167.hp1
HG01169.hp2
HG01891.hp1
HG02965.hp2
HG02976.hp2
HG03225.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1236+484C>T
c.1236+484C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942467
chr12:131942531 C
C
 T
T
 6 a0001c0001t0001g0044
a0001c0001t0007g0010
a0001c0001t0007g0032
others(3): Show 
a0001c0001t0001g0044
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0023g0010
a0001c0007t0007g0156
 11 HG00423.hp1
HG01167.hp1
HG01169.hp2
others(8): Show 
HG00423.hp1
HG01167.hp1
HG01169.hp2
HG01891.hp1
HG02965.hp2
HG02976.hp2
HG03225.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1236+548C>T
c.1236+548C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942531
chr12:131942555 C
C
 T
T
 180 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(177): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0146
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 374 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(371): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
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HG00609.hp1
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HG01070.hp1
HG01070.hp2
HG01071.hp1
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HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
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HG01106.hp1
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HG01109.hp1
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HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
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HG01175.hp1
HG01175.hp2
HG01192.hp1
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HG01243.hp1
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HG01255.hp1
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HG01256.hp1
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HG01257.hp1
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HG01258.hp1
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HG01261.hp1
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HG01346.hp1
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HG01358.hp1
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HG01361.hp1
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HG01515.hp1
HG01515.hp2
HG01516.hp1
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HG01891.hp1
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HG01928.hp1
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HG01943.hp1
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HG01952.hp1
HG01952.hp2
HG01975.hp1
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HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
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HG02071.hp1
HG02071.hp2
HG02074.hp1
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HG02080.hp1
HG02080.hp2
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HG02132.hp1
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HG02165.hp2
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HG02258.hp1
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HG02572.hp1
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HG02622.hp1
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HG02630.hp1
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HG02647.hp1
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HG02683.hp1
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HG02717.hp1
HG02717.hp2
HG02723.hp1
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HG02735.hp1
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HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
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HG02965.hp1
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HG02970.hp1
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HG02976.hp1
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HG03041.hp1
HG03041.hp2
HG03098.hp1
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HG03130.hp1
HG03130.hp2
HG03139.hp1
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HG03195.hp1
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HG03209.hp1
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HG03225.hp1
HG03225.hp2
HG03239.hp1
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HG03453.hp1
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HG03486.hp1
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HG03491.hp1
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HG04115.hp1
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HG04199.hp1
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HG04204.hp1
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HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
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NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
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NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
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NA18993.hp1
NA18993.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
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NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1236+572C>T
c.1236+572C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942555
chr12:131942556 A
A
 G
G
 185 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(182): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 379 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(376): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1236+573A>G
c.1236+573A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942556
chr12:131942563 C
C
 T
T
 3 a0001c0001t0001g0109
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0001g0109
a0001c0001t0006g0111
a0001c0001t0006g0127
 3 HG00738.hp1
HG02895.hp2
HG02897.hp1
HG00738.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1236+580C>T
c.1236+580C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942563
chr12:131942567 C
C
 T
T
 2 a0001c0001t0001g0109
a0001c0001t0003g0046
a0001c0001t0001g0109
a0001c0001t0003g0046
 2 HG00738.hp1
HG02647.hp2
HG00738.hp1
HG02647.hp2
 intron_variant MODIFIER c.1236+584C>T
c.1236+584C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942567
chr12:131942568 G
G
 A
A
 1 a0001c0001t0003g0145
a0001c0001t0003g0145
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1236+585G>A
c.1236+585G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942568
chr12:131942572 C
C
 A
A
 3 a0001c0001t0001g0094
a0001c0001t0001g0109
a0001c0001t0001g0116
a0001c0001t0001g0094
a0001c0001t0001g0109
a0001c0001t0001g0116
 3 HG00738.hp1
HG01123.hp2
HG01515.hp1
HG00738.hp1
HG01123.hp2
HG01515.hp1
 intron_variant MODIFIER c.1236+589C>A
c.1236+589C>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942572
chr12:131942576 T
T
 G
G
 1 a0001c0001t0001g0094
a0001c0001t0001g0094
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1236+593T>G
c.1236+593T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942576
chr12:131942596 T
T
 C
C
 36 a0001c0001t0001g0094
a0001c0001t0002g0003
a0001c0001t0002g0012
others(33): Show 
a0001c0001t0001g0094
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0151
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0015g0073
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0020g0135
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0039g0063
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0045g0015
a0001c0001t0046g0003
 70 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(67): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp2
HG01123.hp2
HG01175.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
NA18522.hp1
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 intron_variant MODIFIER c.1236+613T>C
c.1236+613T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942596
chr12:131942601 T
T
 G
G
 32 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(29): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0043
a0001c0001t0003g0151
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0015g0073
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0036g0064
a0001c0001t0039g0063
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0045g0015
a0001c0001t0046g0003
 64 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(61): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03579.hp2
HG04115.hp2
NA18522.hp1
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 intron_variant MODIFIER c.1236+618T>G
c.1236+618T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942601
chr12:131942608 A
A
 G
G
 7 a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0125
others(4): Show 
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0125
a0001c0001t0001g0129
a0001c0001t0003g0141
a0001c0001t0015g0086
a0001c0001t0038g0154
 7 HG02040.hp2
HG02257.hp2
HG02602.hp2
others(4): Show 
HG02040.hp2
HG02257.hp2
HG02602.hp2
NA18940.hp1
NA18959.hp2
NA18966.hp2
NA19087.hp1
 intron_variant MODIFIER c.1236+625A>G
c.1236+625A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942608
chr12:131942622 G
G
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1236+639G>A
c.1236+639G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942622
chr12:131942627 T
T
 C
C
 10 a0001c0001t0001g0059
a0001c0001t0001g0124
a0001c0001t0001g0126
others(7): Show 
a0001c0001t0001g0059
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0006g0028
a0001c0001t0007g0118
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0027g0028
a0001c0007t0007g0156
 16 HG01891.hp1
HG02015.hp1
HG02109.hp1
others(13): Show 
HG01891.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02630.hp1
HG02809.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
NA18991.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1236+644T>C
c.1236+644T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942627
chr12:131942634 C
C
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1236+651C>T
c.1236+651C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942634
chr12:131942641 T
T
 C
C
 2 a0001c0001t0001g0126
a0001c0003t0004g0060
a0001c0001t0001g0126
a0001c0003t0004g0060
 2 HG02004.hp1
NA19043.hp1
HG02004.hp1
NA19043.hp1
 intron_variant MODIFIER c.1236+658T>C
c.1236+658T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942641
chr12:131942652 C
C
 T
T
 4 a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
others(1): Show 
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
 5 HG02056.hp2
HG02735.hp1
HG03654.hp2
others(2): Show 
HG02056.hp2
HG02735.hp1
HG03654.hp2
NA18952.hp2
NA19080.hp2
 intron_variant MODIFIER c.1236+669C>T
c.1236+669C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942652
chr12:131942657 T
T
 C
C
 3 a0001c0001t0001g0035
a0001c0001t0001g0108
a0001c0001t0001g0126
a0001c0001t0001g0035
a0001c0001t0001g0108
a0001c0001t0001g0126
 4 HG01168.hp1
HG01169.hp1
HG01361.hp2
others(1): Show 
HG01168.hp1
HG01169.hp1
HG01361.hp2
NA19043.hp1
 intron_variant MODIFIER c.1236+674T>C
c.1236+674T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942657
chr12:131942680 A
A
 G
G
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1236+697A>G
c.1236+697A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942680
chr12:131942684 T
T
 G
G
 2 a0001c0001t0001g0059
a0001c0001t0004g0021
a0001c0001t0001g0059
a0001c0001t0004g0021
 3 HG02071.hp1
HG02132.hp2
NA18991.hp1
HG02071.hp1
HG02132.hp2
NA18991.hp1
 intron_variant MODIFIER c.1236+701T>G
c.1236+701T>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942684
chr12:131942863 G
G
 A
A
 1 a0001c0001t0015g0086
a0001c0001t0015g0086
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.1237-676G>A
c.1237-676G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942863
chr12:131942875 G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.1237-664G>A
c.1237-664G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942875
chr12:131942908 T
T
 C
C
 2 a0001c0001t0001g0061
a0001c0001t0001g0114
a0001c0001t0001g0061
a0001c0001t0001g0114
 2 HG00438.hp2
NA19075.hp1
HG00438.hp2
NA19075.hp1
 intron_variant MODIFIER c.1237-631T>C
c.1237-631T>C
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942908
chr12:131942985 C
C
 T
T
 2 a0001c0001t0041g0082
a0001c0011t0006g0140
a0001c0001t0041g0082
a0001c0011t0006g0140
 2 HG01243.hp1
NA18522.hp2
HG01243.hp1
NA18522.hp2
 intron_variant MODIFIER c.1237-554C>T
c.1237-554C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131942985
chr12:131943024 G
G
 A
A
 1 a0001c0001t0039g0063
a0001c0001t0039g0063
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1237-515G>A
c.1237-515G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131943024
chr12:131943190 C
C
 T
T
 186 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(183): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 380 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(377): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1237-349C>T
c.1237-349C>T
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131943190
chr12:131943296 G
G
 A
A
 37 a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
others(34): Show 
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0024g0081
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0036g0064
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0041g0082
a0001c0001t0043g0012
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0011t0006g0140
a0001c0012t0006g0139
 68 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(65): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18974.hp2
NA18991.hp2
NA18993.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19065.hp1
NA19070.hp2
NA19079.hp1
NA19084.hp2
NA19086.hp1
 intron_variant MODIFIER c.1237-243G>A
c.1237-243G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131943296
chr12:131943328 G
G
 A
A
 1 a0001c0001t0038g0154
a0001c0001t0038g0154
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1237-211G>A
c.1237-211G>A
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131943328
chr12:131943364 A
A
 G
G
 187 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(184): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0002g0003
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0031
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0003g0007
a0001c0001t0003g0009
a0001c0001t0003g0018
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0149
a0001c0001t0003g0151
a0001c0001t0003g0155
a0001c0001t0003g0157
a0001c0001t0004g0002
a0001c0001t0004g0021
a0001c0001t0005g0001
a0001c0001t0005g0097
a0001c0001t0006g0028
a0001c0001t0006g0030
a0001c0001t0006g0047
a0001c0001t0006g0111
a0001c0001t0006g0127
a0001c0001t0006g0128
a0001c0001t0006g0153
a0001c0001t0007g0010
a0001c0001t0007g0032
a0001c0001t0007g0118
a0001c0001t0008g0014
a0001c0001t0008g0025
a0001c0001t0008g0029
a0001c0001t0008g0074
a0001c0001t0008g0075
a0001c0001t0009g0002
a0001c0001t0009g0019
a0001c0001t0010g0001
a0001c0001t0010g0103
a0001c0001t0012g0008
a0001c0001t0012g0152
a0001c0001t0013g0008
a0001c0001t0014g0007
a0001c0001t0014g0143
a0001c0001t0014g0150
a0001c0001t0015g0073
a0001c0001t0015g0085
a0001c0001t0015g0086
a0001c0001t0016g0041
a0001c0001t0017g0042
a0001c0001t0018g0048
a0001c0001t0018g0050
a0001c0001t0019g0040
a0001c0001t0020g0004
a0001c0001t0020g0135
a0001c0001t0021g0013
a0001c0001t0022g0004
a0001c0001t0023g0010
a0001c0001t0024g0081
a0001c0001t0025g0004
a0001c0001t0026g0030
a0001c0001t0027g0028
a0001c0001t0028g0001
a0001c0001t0029g0052
a0001c0001t0030g0002
a0001c0001t0031g0004
a0001c0001t0032g0131
a0001c0001t0033g0002
a0001c0001t0034g0113
a0001c0001t0035g0107
a0001c0001t0036g0064
a0001c0001t0037g0053
a0001c0001t0038g0154
a0001c0001t0039g0063
a0001c0001t0040g0001
a0001c0001t0041g0082
a0001c0001t0042g0004
a0001c0001t0043g0012
a0001c0001t0044g0029
a0001c0001t0045g0015
a0001c0001t0046g0003
a0001c0003t0004g0002
a0001c0003t0004g0057
a0001c0003t0004g0060
a0001c0004t0001g0001
a0001c0005t0001g0005
a0001c0007t0007g0156
a0001c0011t0006g0140
a0001c0012t0006g0139
a0002c0002t0011g0033
a0002c0002t0011g0090
a0002c0002t0011g0091
a0002c0002t0011g0138
a0003c0006t0001g0004
a0003c0006t0001g0130
a0004c0008t0001g0001
a0005c0010t0001g0005
a0006c0009t0001g0001
 381 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(378): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.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
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1237-175A>G
c.1237-175A>G
PUS1 ENSG00000177192.14 transcript ENST00000376649.8 protein_coding 5/5 chr12 131943364

  • 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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