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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   HPS4_chr22_26445882_26488783  HPS4_chr22_26445882_26488783 (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 89781
ensemblid ENSG00000100099.22
hgncid 15844
symbol HPS4
name HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
refseq_nuc NM_022081.6
refseq_prot NP_071364.4
ensembl_nuc ENST00000398145.7
ensembl_prot ENSP00000381213.2
mane_status MANE Select
chr chr22
start 26450882
end 26483783
strand -
ver v1.2
region chr22:26450882-26483783
region5000 chr22:26445882-26488783
regionname0 HPS4_chr22_26450882_26483783
regionname5000 HPS4_chr22_26445882_26488783

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 708 165 30 34 76 5 19 61 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002 0/0 708 127 27 17 60 8 15 49 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003 1/0 708 85 20 17 41 1 5 35 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004 0/0 708 8 5 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0005 0/0 708 6 6 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0006 0/0 708 3 1 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0007 0/0 708 2 0 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0008 0/0 708 2 0 0 2 0 0 2 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0009 0/0 708 1 0 0 1 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0010 0/0 708 1 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0011 0/0 708 1 0 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0012 0/0 708 1 0 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0013 0/0 708 1 0 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0014 0/0 708 1 0 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 2127 156 26 34 71 5 19 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0002 0/0 2127 114 18 16 58 8 14 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0003 1/0 2127 61 18 17 21 1 3 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0004 0/0 2127 21 0 0 20 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0005 0/0 2127 10 9 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0006 0/0 2127 6 6 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0007 0/0 2127 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0008 0/0 2127 4 1 3 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0009 0/0 2127 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0010 0/0 2127 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0011 0/0 2127 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0012 0/0 2127 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0013 0/0 2127 2 0 0 0 2 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0014 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0015 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0016 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0017 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0018 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0019 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0020 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0021 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0022 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0023 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0024 0/0 2127 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
c0025 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 2930 47 2 4 26 9 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0002 0/0 2936 35 2 7 19 0 7 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0003 0/0 2934 34 6 9 12 1 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0004 0/0 2932 33 9 4 11 3 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0005 0/0 2930 20 1 5 13 1 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0006 0/0 2928 19 10 3 3 0 3 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0007 0/0 2924 18 0 0 17 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0008 1/0 2940 15 0 5 7 0 2 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0009 0/0 2926 14 12 1 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0010 0/0 2936 12 1 2 9 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0011 0/0 2922 11 11 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0012 0/0 2932 11 0 1 7 0 3 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0013 0/0 2934 7 0 0 7 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0014 0/0 2928 7 0 5 0 1 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0015 0/0 2934 6 1 2 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0016 0/0 2940 6 0 2 3 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0017 0/0 2932 6 0 0 6 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0018 0/0 2926 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0019 0/0 2934 4 0 3 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0020 0/0 2936 4 0 0 4 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0021 0/0 2924 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0022 0/0 2924 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0023 0/0 2922 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0024 0/0 2930 3 0 1 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0025 0/0 2938 3 1 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0026 0/0 2936 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0027 0/0 2924 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0028 0/0 2928 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0029 0/0 2938 3 0 1 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0030 0/0 2920 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0031 0/0 2936 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0032 0/0 2934 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0033 0/0 2926 2 1 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0034 0/0 2934 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0035 0/0 2938 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0036 0/0 2940 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0037 0/0 2936 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0038 0/0 2938 2 0 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0039 0/0 2920 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0040 0/0 2930 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0041 0/0 2934 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0042 0/0 2928 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0043 0/0 2930 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0044 0/0 2934 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0045 0/0 2922 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0046 0/0 2920 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0047 0/0 2920 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0048 0/0 2926 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0049 0/0 2922 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0050 0/0 2926 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0051 0/0 2936 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0052 0/0 2926 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0053 0/0 2940 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0054 0/0 2924 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0055 0/0 2924 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0056 0/0 2924 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0057 0/1 2930 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0058 0/0 2928 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0059 0/0 2932 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0060 0/0 2930 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0061 0/0 2930 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0062 0/0 2934 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0063 0/0 2938 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0064 0/0 2936 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0065 0/0 2940 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0066 0/0 2938 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0067 0/0 2936 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0068 0/0 2932 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0069 0/0 2940 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0070 0/0 2920 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0071 0/0 2940 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0072 0/0 2940 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0073 0/0 2940 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0074 0/0 2926 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0075 0/0 2940 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0076 0/0 2936 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0077 0/0 2926 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0078 0/0 2928 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0079 0/0 2926 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0080 0/0 2928 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
t0081 0/0 2938 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 11 0 2 8 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0002 0/0 9 0 2 3 0 4 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0003 0/0 8 0 0 7 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0004 0/0 6 1 1 2 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0005 0/0 6 1 3 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0006 0/0 5 5 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0007 0/0 5 0 0 3 0 2 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0008 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0009 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0010 0/0 5 0 1 4 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0011 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0012 0/0 4 0 4 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0013 0/0 4 0 0 2 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0014 0/0 4 1 2 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0015 0/0 4 0 1 0 1 2 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0016 0/0 3 0 3 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0017 0/0 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0018 0/0 3 2 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0019 0/0 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0020 0/0 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0021 0/0 3 0 1 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0022 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0023 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0024 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0025 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0026 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0027 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0028 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0029 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0030 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0031 0/0 2 0 1 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0032 0/0 2 0 0 0 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0033 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0034 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0035 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0036 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0037 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0038 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0039 0/0 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0040 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0041 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0042 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0043 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0044 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0045 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0046 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0047 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0048 0/0 2 0 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0049 0/0 2 0 0 0 1 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0050 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0051 0/0 2 0 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0052 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0053 0/0 2 0 1 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0054 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0055 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0056 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0057 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0058 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0059 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0060 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0061 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0062 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0063 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0064 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0065 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0066 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0067 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0068 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0069 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0070 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0071 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0072 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0073 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0074 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0075 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0076 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0077 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0078 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0079 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0080 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0081 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0082 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0083 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0084 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0085 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0086 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0087 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0088 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0089 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0090 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0091 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0092 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0093 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0094 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0095 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0096 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0097 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0098 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0099 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0100 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0101 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0102 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0103 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0104 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0105 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0106 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0107 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0108 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0109 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0110 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0111 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0112 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0113 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0114 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0115 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0116 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0117 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0118 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0119 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0120 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0121 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0122 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0123 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0124 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0125 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0126 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0127 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0128 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0129 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0130 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0131 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0132 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0133 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0134 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0135 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0136 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0137 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0138 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0139 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0140 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0141 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0142 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0143 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0144 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0145 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0146 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0147 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0148 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0149 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0150 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0151 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0152 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0153 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0154 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0155 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0156 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0157 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0158 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0159 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0160 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0161 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0162 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0163 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0164 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0165 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0166 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0167 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0168 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0169 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0170 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0171 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0172 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0173 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0174 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0175 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0176 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0177 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0178 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0179 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0180 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0181 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0182 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0183 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0184 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0185 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0186 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0187 0/1 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0188 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0189 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0190 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0191 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0192 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0193 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0194 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0195 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0196 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0197 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0198 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0199 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0200 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0201 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0202 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0203 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0204 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0205 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0206 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0207 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0208 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0209 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0210 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0211 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0212 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0213 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0214 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0215 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0216 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0217 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0218 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0219 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0220 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0221 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0222 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0223 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0224 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0225 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0226 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0227 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0228 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0229 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0230 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0231 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0232 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0233 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0234 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0235 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0236 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0237 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0238 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0239 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0240 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0241 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0242 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0243 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0244 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0245 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0246 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0247 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0248 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0249 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0250 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0251 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0252 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0253 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0254 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0255 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0256 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0257 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0258 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0259 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0260 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0261 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0262 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0263 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0264 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0265 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0266 1/0 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0267 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0268 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0269 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0270 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0271 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0272 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0273 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0274 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0275 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0276 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0277 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0278 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0279 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0280 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0281 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0282 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0283 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0284 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0285 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0286 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0287 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
g0288 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 2127 156 26 34 71 5 19 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0007 0/0 2127 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0010 0/0 2127 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002 0/0 2127 114 18 16 58 8 14 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0005 0/0 2127 10 9 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0018 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0019 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0021 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003 1/0 2127 61 18 17 21 1 3 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0004 0/0 2127 21 0 0 20 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0014 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0015 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0016 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0008 0/0 2127 4 1 3 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0009 0/0 2127 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0005c0006 0/0 2127 6 6 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0006c0011 0/0 2127 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0007c0013 0/0 2127 2 0 0 0 2 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0008c0012 0/0 2127 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0009c0020 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0010c0025 0/0 2127 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0011c0017 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0012c0022 0/0 2127 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0013c0023 0/0 2127 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0014c0024 0/0 2127 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0002 0/0 5062 33 2 7 18 0 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0003 0/0 5060 34 6 9 12 1 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0004 0/0 5058 28 9 4 6 3 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0005 0/0 5056 20 1 5 13 1 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0010 0/0 5062 12 1 2 9 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0015 0/0 5060 6 1 2 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0023 0/0 5048 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0025 0/0 5064 3 1 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0033 0/0 5052 2 1 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0035 0/0 5064 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0036 0/0 5066 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0041 0/0 5060 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0055 0/0 5050 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0057 0/1 5056 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0058 0/0 5054 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0061 0/0 5056 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0063 0/0 5064 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0064 0/0 5062 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0065 0/0 5066 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0066 0/0 5064 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0001t0078 0/0 5054 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0007t0004 0/0 5058 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0010t0006 0/0 5054 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0001c0010t0009 0/0 5052 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0001 0/0 5056 44 2 4 25 7 6 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0006 0/0 5054 14 5 3 3 0 3 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0009 0/0 5052 5 4 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0012 0/0 5058 10 0 1 7 0 2 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0013 0/0 5060 4 0 0 4 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0014 0/0 5054 7 0 5 0 1 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0017 0/0 5058 6 0 0 6 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0018 0/0 5052 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0024 0/0 5056 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0026 0/0 5062 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0034 0/0 5060 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0040 0/0 5056 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0042 0/0 5054 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0043 0/0 5056 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0044 0/0 5060 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0059 0/0 5058 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0060 0/0 5056 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0062 0/0 5060 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0067 0/0 5062 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0068 0/0 5058 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0077 0/0 5052 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0079 0/0 5052 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0080 0/0 5054 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0002t0081 0/0 5064 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0005t0006 0/0 5054 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0005t0009 0/0 5052 8 7 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0005t0054 0/0 5050 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0018t0012 0/0 5058 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0019t0024 0/0 5056 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0002c0021t0001 0/0 5056 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0008 1/0 5066 15 0 5 7 0 2 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0011 0/0 5048 4 4 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0016 0/0 5066 6 0 2 3 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0019 0/0 5060 4 0 3 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0020 0/0 5062 4 0 0 4 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0021 0/0 5050 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0029 0/0 5064 3 0 1 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0030 0/0 5046 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0031 0/0 5062 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0032 0/0 5060 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0037 0/0 5062 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0038 0/0 5064 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0039 0/0 5046 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0045 0/0 5048 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0046 0/0 5046 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0047 0/0 5046 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0049 0/0 5048 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0051 0/0 5062 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0053 0/0 5066 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0069 0/0 5066 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0071 0/0 5066 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0072 0/0 5066 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0073 0/0 5066 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0075 0/0 5066 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0003t0076 0/0 5062 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0004t0007 0/0 5050 18 0 0 17 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0004t0048 0/0 5052 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0004t0050 0/0 5052 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0004t0052 0/0 5052 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0014t0032 0/0 5060 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0015t0011 0/0 5048 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0003c0016t0038 0/0 5064 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0008t0027 0/0 5050 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0008t0074 0/0 5052 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0009t0028 0/0 5054 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0004c0009t0070 0/0 5046 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0005c0006t0011 0/0 5048 6 6 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0006c0011t0022 0/0 5050 3 1 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0007c0013t0001 0/0 5056 2 0 0 0 2 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0008c0012t0013 0/0 5060 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0009c0020t0002 0/0 5062 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0010c0025t0006 0/0 5054 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0011c0017t0013 0/0 5060 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0012c0022t0040 0/0 5056 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0013c0023t0002 0/0 5062 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783
a0014c0024t0056 0/0 5050 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 copy fasta chr22 26445882 26488783

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0002g0002 0/0 9 0 2 3 0 4 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0011 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0038 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0042 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0148 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0151 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0159 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0171 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0179 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0194 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0243 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0247 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0249 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0255 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0256 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0257 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0258 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0261 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0002g0263 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0005 0/0 6 1 3 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0014 0/0 4 1 2 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0021 0/0 3 0 1 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0039 0/0 2 0 1 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0041 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0058 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0142 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0157 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0158 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0164 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0167 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0168 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0172 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0174 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0176 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0180 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0181 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0182 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0190 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0191 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0192 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0003g0193 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0004 0/0 6 1 1 2 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0015 0/0 4 0 1 0 1 2 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0035 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0046 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0120 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0128 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0129 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0130 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0131 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0136 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0146 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0156 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0161 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0166 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0175 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0198 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0246 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0004g0265 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0008 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0050 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0110 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0111 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0122 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0124 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0127 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0141 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0143 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0144 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0145 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0150 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0169 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0189 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0005g0248 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0010 0/0 5 0 1 4 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0037 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0123 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0137 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0178 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0195 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0010g0244 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0015g0040 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0015g0152 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0015g0162 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0015g0170 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0015g0177 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0023g0245 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0023g0259 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0023g0260 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0025g0051 0/0 2 0 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0025g0163 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0033g0121 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0033g0149 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0035g0262 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0035g0270 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0036g0155 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0036g0173 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0041g0287 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0041g0288 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0055g0160 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0057g0187 0/1 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0058g0188 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0061g0250 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0063g0251 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0064g0252 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0065g0253 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0066g0254 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0001t0078g0241 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0007t0004g0036 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0007t0004g0043 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0007t0004g0147 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0010t0006g0033 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0010t0006g0118 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0001c0010t0009g0119 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0001 0/0 11 0 2 8 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0013 0/0 4 0 0 2 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0020 0/0 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0048 0/0 2 0 0 1 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0049 0/0 2 0 0 0 1 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0113 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0115 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0117 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0183 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0199 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0200 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0203 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0205 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0208 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0210 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0212 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0213 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0214 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0216 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0221 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0222 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0223 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0225 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0234 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0235 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0237 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0001g0238 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0031 0/0 2 0 1 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0112 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0116 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0153 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0165 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0196 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0202 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0207 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0217 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0219 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0228 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0236 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0006g0271 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0009g0138 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0009g0139 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0009g0140 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0009g0209 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0009g0272 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0009 0/0 5 0 0 5 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0114 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0184 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0204 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0220 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0012g0233 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0013g0045 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0013g0201 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0013g0215 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0014g0053 0/0 2 0 1 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0014g0054 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0014g0283 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0014g0285 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0014g0286 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0017g0052 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0017g0277 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0017g0278 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0017g0279 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0017g0280 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0018g0019 0/0 3 3 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0018g0135 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0024g0206 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0024g0226 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0026g0211 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0026g0229 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0026g0230 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0034g0047 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0040g0284 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0042g0055 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0043g0056 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0044g0057 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0059g0231 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0060g0227 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0062g0186 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0067g0197 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0068g0267 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0077g0240 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0079g0276 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0080g0275 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0002t0081g0281 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0006g0126 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0009g0018 0/0 3 2 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0009g0034 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0009g0132 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0009g0133 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0009g0134 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0005t0054g0125 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0018t0012g0218 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0019t0024g0232 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0002c0021t0001g0242 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0007 0/0 5 0 0 3 0 2 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0012 0/0 4 0 4 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0072 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0077 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0081 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0083 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0093 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0008g0266 1/0 1 0 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0011g0023 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0011g0024 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0016g0025 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0016g0082 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0016g0094 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0016g0096 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0016g0097 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0019g0016 0/0 3 0 3 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0019g0076 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0020g0026 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0020g0071 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0020g0084 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0021g0022 0/0 2 2 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0021g0066 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0029g0059 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0029g0074 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0029g0079 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0030g0029 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0031g0063 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0031g0064 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0032g0062 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0037g0091 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0037g0098 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0038g0075 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0039g0268 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0039g0269 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0045g0274 0/0 1 0 0 0 1 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0046g0273 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0047g0065 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0049g0068 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0051g0107 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0053g0061 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0069g0078 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0071g0086 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0072g0085 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0073g0073 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0075g0095 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0003t0076g0092 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0003 0/0 8 0 0 7 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0017 0/0 3 0 0 3 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0028 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0100 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0103 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0104 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0105 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0007g0109 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0048g0101 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0050g0102 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0004t0052g0106 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0014t0032g0060 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0015t0011g0069 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0003c0016t0038g0080 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0008t0027g0027 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0008t0027g0070 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0008t0074g0087 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0009t0028g0088 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0009t0028g0089 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0009t0028g0099 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0004c0009t0070g0090 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0005c0006t0011g0006 0/0 5 5 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0005c0006t0011g0067 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0006c0011t0022g0030 0/0 2 0 2 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0006c0011t0022g0108 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0007c0013t0001g0032 0/0 2 0 0 0 2 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0008c0012t0013g0044 0/0 2 0 0 2 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0009c0020t0002g0154 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0010c0025t0006g0239 0/0 1 1 0 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0011c0017t0013g0185 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0012c0022t0040g0282 0/0 1 0 0 1 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0013c0023t0002g0264 0/0 1 0 0 0 0 1 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
a0014c0024t0056g0224 0/0 1 0 1 0 0 0 HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0002 t0001 g0013 EUR GBR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00099 hp2 a0001 c0001 t0004 g0015 EUR GBR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00140 hp1 a0002 c0002 t0001 g0049 EUR GBR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00140 hp2 a0002 c0002 t0014 g0053 EUR GBR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00323 hp1 a0001 c0001 t0005 g0248 EUR FIN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00323 hp2 a0002 c0002 t0001 g0199 EUR FIN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00423 hp1 a0011 c0017 t0013 g0185 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00423 hp2 a0001 c0001 t0023 g0260 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00438 hp1 a0002 c0002 t0024 g0206 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00438 hp2 a0002 c0002 t0001 g0216 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00544 hp1 a0001 c0001 t0004 g0004 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00544 hp2 a0001 c0001 t0005 g0008 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00597 hp1 a0003 c0004 t0007 g0017 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00597 hp2 a0003 c0003 t0016 g0082 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00609 hp1 a0001 c0001 t0002 g0002 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00609 hp2 a0003 c0004 t0007 g0103 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00639 hp1 a0001 c0001 t0005 g0122 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00639 hp2 a0003 c0003 t0008 g0083 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00642 hp1 a0001 c0001 t0002 g0249 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00642 hp2 a0002 c0002 t0001 g0205 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00673 hp1 a0001 c0001 t0005 g0144 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00673 hp2 a0002 c0019 t0024 g0232 EAS CHS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00733 hp1 a0002 c0002 t0012 g0114 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00733 hp2 a0002 c0002 t0001 g0221 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00735 hp1 a0001 c0001 t0004 g0265 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00735 hp2 a0003 c0003 t0008 g0012 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00738 hp1 a0002 c0002 t0040 g0284 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00738 hp2 a0001 c0001 t0035 g0262 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00741 hp1 a0003 c0003 t0046 g0273 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG00741 hp2 a0002 c0002 t0024 g0226 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01069 hp1 a0003 c0003 t0008 g0012 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01069 hp2 a0001 c0001 t0058 g0188 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01070 hp1 a0001 c0001 t0064 g0252 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01070 hp2 a0002 c0002 t0014 g0285 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01071 hp1 a0003 c0003 t0008 g0012 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01071 hp2 a0002 c0002 t0014 g0053 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01081 hp1 a0001 c0001 t0004 g0015 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01081 hp2 a0001 c0001 t0004 g0004 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01099 hp1 a0001 c0001 t0003 g0014 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01099 hp2 a0003 c0003 t0030 g0029 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01106 hp1 a0001 c0001 t0005 g0111 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01106 hp2 a0001 c0001 t0003 g0021 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01167 hp1 a0003 c0003 t0016 g0025 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01167 hp2 a0003 c0003 t0030 g0029 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01168 hp1 a0001 c0001 t0003 g0005 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01168 hp2 a0004 c0008 t0074 g0087 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01175 hp1 a0004 c0008 t0027 g0027 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01175 hp2 a0014 c0024 t0056 g0224 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01192 hp1 a0001 c0001 t0003 g0005 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01192 hp2 a0003 c0003 t0016 g0025 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01243 hp1 a0002 c0005 t0009 g0018 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01243 hp2 a0001 c0001 t0003 g0167 AMR PUR HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01255 hp1 a0001 c0001 t0003 g0168 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01255 hp2 a0001 c0001 t0010 g0010 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01256 hp1 a0006 c0011 t0022 g0030 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01256 hp2 a0002 c0002 t0014 g0286 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01257 hp1 a0002 c0002 t0014 g0054 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01257 hp2 a0001 c0001 t0005 g0124 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01258 hp1 a0002 c0002 t0014 g0054 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01258 hp2 a0006 c0011 t0022 g0030 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01261 hp1 a0001 c0001 t0015 g0170 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01261 hp2 a0001 c0001 t0066 g0254 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01358 hp1 a0003 c0003 t0019 g0016 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01358 hp2 a0003 c0003 t0029 g0079 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01361 hp1 a0001 c0001 t0005 g0110 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01361 hp2 a0001 c0001 t0003 g0014 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01433 hp1 a0001 c0001 t0002 g0247 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01433 hp2 a0001 c0001 t0002 g0148 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01496 hp1 a0002 c0002 t0080 g0275 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01496 hp2 a0001 c0001 t0002 g0151 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01515 hp1 a0002 c0002 t0001 g0222 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01515 hp2 a0001 c0001 t0004 g0004 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01516 hp1 a0007 c0013 t0001 g0032 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01516 hp2 a0002 c0002 t0001 g0238 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01517 hp1 a0007 c0013 t0001 g0032 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01517 hp2 a0001 c0001 t0004 g0004 EUR IBS HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01884 hp1 a0002 c0005 t0009 g0018 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01884 hp2 a0002 c0002 t0077 g0240 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01891 hp1 a0002 c0005 t0009 g0134 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01891 hp2 a0002 c0002 t0018 g0019 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01934 hp1 a0002 c0002 t0006 g0202 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01934 hp2 a0003 c0003 t0076 g0092 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01952 hp1 a0001 c0001 t0002 g0171 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01952 hp2 a0001 c0001 t0003 g0005 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01975 hp1 a0001 c0001 t0010 g0123 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01975 hp2 a0003 c0003 t0019 g0016 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01981 hp1 a0003 c0003 t0019 g0016 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01981 hp2 a0002 c0002 t0006 g0031 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01993 hp1 a0001 c0001 t0015 g0152 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01993 hp2 a0001 c0001 t0004 g0175 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02004 hp1 a0001 c0001 t0033 g0149 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02004 hp2 a0004 c0008 t0027 g0027 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02015 hp1 a0001 c0001 t0061 g0250 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02015 hp2 a0002 c0002 t0034 g0047 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02055 hp1 a0002 c0005 t0009 g0034 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02055 hp2 a0002 c0002 t0001 g0117 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02056 hp1 a0001 c0001 t0005 g0127 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02056 hp2 a0003 c0004 t0052 g0106 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02071 hp1 a0002 c0002 t0001 g0235 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02071 hp2 a0003 c0003 t0008 g0007 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02074 hp1 a0012 c0022 t0040 g0282 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02074 hp2 a0001 c0001 t0025 g0051 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02132 hp1 a0001 c0001 t0002 g0002 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02132 hp2 a0002 c0002 t0012 g0009 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02135 hp1 a0002 c0002 t0006 g0153 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02135 hp2 a0001 c0001 t0002 g0258 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02145 hp1 a0001 c0001 t0003 g0193 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02145 hp2 a0005 c0006 t0011 g0006 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02148 hp1 a0002 c0002 t0006 g0217 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02148 hp2 a0003 c0003 t0037 g0098 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02155 hp1 a0002 c0002 t0001 g0210 EAS CDX HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02155 hp2 a0001 c0001 t0004 g0166 EAS CDX HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02165 hp1 a0001 c0001 t0005 g0008 EAS CDX HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02165 hp2 a0003 c0003 t0020 g0026 EAS CDX HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02257 hp1 a0003 c0003 t0011 g0024 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02257 hp2 a0002 c0002 t0006 g0116 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02258 hp1 a0001 c0001 t0004 g0130 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02258 hp2 a0001 c0001 t0003 g0014 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02273 hp1 a0002 c0002 t0001 g0001 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02273 hp2 a0001 c0001 t0002 g0002 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02280 hp1 a0001 c0001 t0004 g0128 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02280 hp2 a0002 c0002 t0009 g0140 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02293 hp1 a0003 c0003 t0037 g0091 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02293 hp2 a0002 c0002 t0001 g0001 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02300 hp1 a0001 c0001 t0002 g0002 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02300 hp2 a0003 c0003 t0008 g0012 AMR PEL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02451 hp1 a0002 c0002 t0006 g0112 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02451 hp2 a0003 c0003 t0071 g0086 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02523 hp1 a0002 c0002 t0013 g0045 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02523 hp2 a0002 c0002 t0012 g0009 EAS KHV HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02615 hp1 a0001 c0010 t0006 g0118 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02615 hp2 a0004 c0009 t0028 g0088 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02622 hp1 a0001 c0001 t0041 g0288 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02622 hp2 a0002 c0002 t0006 g0196 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02630 hp1 a0006 c0011 t0022 g0108 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02630 hp2 a0001 c0001 t0004 g0161 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02647 hp1 a0001 c0001 t0003 g0182 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02647 hp2 a0003 c0003 t0011 g0023 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02683 hp1 a0002 c0002 t0006 g0236 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02683 hp2 a0002 c0002 t0001 g0113 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02698 hp1 a0002 c0002 t0001 g0049 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02698 hp2 a0001 c0001 t0003 g0181 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02717 hp1 a0003 c0015 t0011 g0069 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02717 hp2 a0004 c0009 t0028 g0099 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02723 hp1 a0003 c0014 t0032 g0060 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02723 hp2 a0001 c0001 t0055 g0160 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02735 hp1 a0013 c0023 t0002 g0264 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02735 hp2 a0001 c0001 t0003 g0158 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02738 hp1 a0001 c0001 t0003 g0192 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02738 hp2 a0001 c0001 t0004 g0015 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02818 hp1 a0003 c0003 t0031 g0063 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02818 hp2 a0002 c0005 t0054 g0125 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02886 hp1 a0003 c0003 t0021 g0022 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02886 hp2 a0002 c0005 t0006 g0126 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02895 hp1 a0003 c0003 t0021 g0022 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02895 hp2 a0001 c0001 t0004 g0046 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02896 hp1 a0002 c0002 t0006 g0165 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02896 hp2 a0003 c0003 t0039 g0268 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02897 hp1 a0003 c0003 t0039 g0269 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02897 hp2 a0001 c0001 t0004 g0046 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02922 hp1 a0001 c0001 t0004 g0004 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02922 hp2 a0001 c0010 t0006 g0033 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02965 hp1 a0001 c0010 t0006 g0033 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02965 hp2 a0003 c0003 t0049 g0068 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02970 hp1 a0001 c0001 t0003 g0174 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02970 hp2 a0005 c0006 t0011 g0006 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02976 hp1 a0001 c0001 t0004 g0035 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02976 hp2 a0003 c0003 t0032 g0062 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03017 hp1 a0001 c0001 t0002 g0002 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03017 hp2 a0003 c0003 t0008 g0007 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03041 hp1 a0003 c0003 t0053 g0061 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03041 hp2 a0002 c0002 t0001 g0237 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03098 hp1 a0002 c0002 t0067 g0197 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03098 hp2 a0001 c0010 t0009 g0119 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03130 hp1 a0010 c0025 t0006 g0239 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03130 hp2 a0003 c0003 t0011 g0023 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03195 hp1 a0002 c0002 t0009 g0139 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03195 hp2 a0001 c0001 t0002 g0038 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03209 hp1 a0005 c0006 t0011 g0067 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03209 hp2 a0002 c0002 t0018 g0019 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03239 hp1 a0001 c0001 t0004 g0156 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03239 hp2 a0002 c0018 t0012 g0218 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03453 hp1 a0001 c0001 t0015 g0162 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03453 hp2 a0003 c0003 t0051 g0107 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03486 hp1 a0003 c0003 t0047 g0065 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03486 hp2 a0001 c0001 t0025 g0163 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03490 hp1 a0001 c0001 t0003 g0021 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03490 hp2 a0001 c0001 t0004 g0120 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03492 hp1 a0001 c0001 t0002 g0002 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03492 hp2 a0001 c0001 t0002 g0159 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03516 hp1 a0001 c0001 t0078 g0241 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03516 hp2 a0003 c0003 t0011 g0024 AFR ESN HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03540 hp1 a0001 c0001 t0003 g0005 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03540 hp2 a0002 c0005 t0009 g0018 AFR GWD HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03579 hp1 a0002 c0002 t0018 g0019 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03579 hp2 a0002 c0005 t0009 g0133 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03654 hp1 a0002 c0002 t0001 g0183 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03654 hp2 a0003 c0016 t0038 g0080 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03669 hp1 a0002 c0002 t0006 g0207 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03669 hp2 a0001 c0001 t0025 g0051 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03688 hp1 a0001 c0001 t0002 g0256 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03688 hp2 a0002 c0002 t0006 g0031 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03704 hp1 a0002 c0002 t0001 g0208 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03704 hp2 a0002 c0002 t0012 g0184 SAS PJL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03831 hp1 a0003 c0003 t0008 g0007 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03831 hp2 a0001 c0001 t0004 g0198 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03927 hp1 a0001 c0001 t0004 g0131 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03927 hp2 a0002 c0002 t0060 g0227 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03942 hp1 a0001 c0001 t0003 g0191 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03942 hp2 a0001 c0001 t0004 g0015 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04115 hp1 a0001 c0001 t0002 g0002 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04115 hp2 a0002 c0002 t0012 g0204 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04184 hp1 a0003 c0004 t0007 g0003 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04184 hp2 a0002 c0002 t0001 g0048 SAS BEB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04199 hp1 a0003 c0003 t0016 g0097 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04199 hp2 a0002 c0002 t0014 g0283 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04204 hp1 a0002 c0002 t0001 g0001 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG04204 hp2 a0001 c0001 t0003 g0005 SAS STU HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18522 hp1 a0001 c0001 t0003 g0164 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18522 hp2 a0001 c0001 t0041 g0287 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18612 hp1 a0002 c0002 t0012 g0009 EAS CHB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18612 hp2 a0001 c0001 t0003 g0021 EAS CHB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18747 hp1 a0001 c0001 t0003 g0180 EAS CHB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18747 hp2 a0001 c0001 t0003 g0172 EAS CHB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18906 hp1 a0001 c0001 t0002 g0038 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18906 hp2 a0002 c0002 t0079 g0276 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18939 hp1 a0003 c0003 t0008 g0081 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18939 hp2 a0009 c0020 t0002 g0154 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18940 hp1 a0003 c0003 t0075 g0095 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18940 hp2 a0001 c0001 t0003 g0142 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18942 hp1 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18942 hp2 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18945 hp1 a0001 c0001 t0015 g0177 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18945 hp2 a0002 c0002 t0012 g0009 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18946 hp1 a0001 c0001 t0002 g0011 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18946 hp2 a0003 c0003 t0020 g0084 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18949 hp1 a0001 c0001 t0002 g0257 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18949 hp2 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18950 hp1 a0001 c0001 t0002 g0194 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18950 hp2 a0003 c0003 t0019 g0076 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18951 hp1 a0002 c0002 t0001 g0013 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18951 hp2 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18953 hp1 a0002 c0002 t0017 g0052 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18953 hp2 a0002 c0002 t0012 g0220 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18954 hp1 a0001 c0001 t0005 g0050 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18954 hp2 a0001 c0001 t0005 g0008 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18956 hp1 a0001 c0001 t0002 g0042 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18956 hp2 a0003 c0004 t0007 g0028 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18959 hp1 a0001 c0007 t0004 g0043 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18959 hp2 a0002 c0002 t0034 g0047 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18960 hp1 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18960 hp2 a0003 c0003 t0008 g0072 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18962 hp1 a0001 c0007 t0004 g0036 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18962 hp2 a0001 c0001 t0010 g0010 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18963 hp1 a0001 c0001 t0065 g0253 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18963 hp2 a0002 c0002 t0001 g0213 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18965 hp1 a0003 c0003 t0029 g0059 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18965 hp2 a0001 c0001 t0002 g0179 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18966 hp1 a0001 c0001 t0004 g0004 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18966 hp2 a0001 c0001 t0010 g0010 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18967 hp1 a0001 c0001 t0003 g0190 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18967 hp2 a0003 c0004 t0048 g0101 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18968 hp1 a0002 c0002 t0062 g0186 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18968 hp2 a0001 c0001 t0015 g0040 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18969 hp1 a0001 c0001 t0010 g0010 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18969 hp2 a0002 c0002 t0044 g0057 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18970 hp1 a0001 c0001 t0003 g0058 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18970 hp2 a0002 c0002 t0068 g0267 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18971 hp1 a0002 c0021 t0001 g0242 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18971 hp2 a0001 c0001 t0063 g0251 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18972 hp1 a0003 c0003 t0038 g0075 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18972 hp2 a0002 c0002 t0081 g0281 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18973 hp1 a0001 c0001 t0010 g0037 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18973 hp2 a0002 c0002 t0001 g0203 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18974 hp1 a0001 c0001 t0002 g0261 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18974 hp2 a0003 c0003 t0008 g0077 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18975 hp1 a0003 c0004 t0007 g0100 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18975 hp2 a0001 c0001 t0035 g0270 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18976 hp1 a0003 c0004 t0007 g0104 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18976 hp2 a0001 c0001 t0036 g0155 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18978 hp1 a0003 c0003 t0073 g0073 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18978 hp2 a0002 c0002 t0013 g0201 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18981 hp1 a0003 c0003 t0008 g0093 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18981 hp2 a0002 c0002 t0001 g0013 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18982 hp1 a0008 c0012 t0013 g0044 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18982 hp2 a0001 c0001 t0015 g0040 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18983 hp1 a0003 c0003 t0008 g0007 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18983 hp2 a0001 c0001 t0005 g0150 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18984 hp1 a0003 c0003 t0008 g0007 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18984 hp2 a0001 c0001 t0005 g0145 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18985 hp1 a0002 c0002 t0001 g0048 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18985 hp2 a0002 c0002 t0017 g0052 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18988 hp1 a0001 c0001 t0002 g0011 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18988 hp2 a0002 c0002 t0012 g0233 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18989 hp1 a0001 c0001 t0003 g0176 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18989 hp2 a0002 c0002 t0013 g0045 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18990 hp1 a0001 c0001 t0023 g0259 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18990 hp2 a0001 c0007 t0004 g0043 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18991 hp1 a0003 c0004 t0007 g0028 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18991 hp2 a0002 c0002 t0001 g0225 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18992 hp1 a0003 c0003 t0016 g0094 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18992 hp2 a0002 c0002 t0001 g0020 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18993 hp1 a0001 c0001 t0005 g0008 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18993 hp2 a0003 c0003 t0029 g0074 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18994 hp1 a0003 c0003 t0020 g0071 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18994 hp2 a0001 c0001 t0004 g0146 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18997 hp1 a0001 c0001 t0004 g0136 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18997 hp2 a0003 c0003 t0020 g0026 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18998 hp1 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18998 hp2 a0001 c0001 t0002 g0011 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18999 hp1 a0001 c0001 t0023 g0245 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA18999 hp2 a0002 c0002 t0017 g0277 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19000 hp1 a0001 c0001 t0010 g0195 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19000 hp2 a0002 c0002 t0059 g0231 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19002 hp1 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19002 hp2 a0003 c0004 t0007 g0017 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19003 hp1 a0002 c0002 t0006 g0219 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19003 hp2 a0002 c0002 t0017 g0278 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19004 hp1 a0002 c0002 t0026 g0211 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19004 hp2 a0001 c0001 t0002 g0263 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19007 hp1 a0001 c0001 t0002 g0002 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19007 hp2 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19009 hp1 a0001 c0001 t0005 g0008 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19009 hp2 a0008 c0012 t0013 g0044 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19010 hp1 a0001 c0001 t0003 g0157 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19010 hp2 a0001 c0001 t0003 g0039 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19012 hp1 a0001 c0001 t0010 g0137 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19012 hp2 a0002 c0002 t0006 g0228 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19030 hp1 a0005 c0006 t0011 g0006 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19030 hp2 a0003 c0003 t0021 g0066 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19043 hp1 a0003 c0003 t0072 g0085 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19043 hp2 a0004 c0009 t0070 g0090 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19054 hp1 a0001 c0001 t0002 g0255 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19054 hp2 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19055 hp1 a0003 c0003 t0069 g0078 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19055 hp2 a0001 c0001 t0005 g0169 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19056 hp1 a0001 c0007 t0004 g0036 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19056 hp2 a0001 c0001 t0004 g0246 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19057 hp1 a0002 c0002 t0001 g0020 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19057 hp2 a0001 c0001 t0005 g0050 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19058 hp1 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19058 hp2 a0001 c0001 t0002 g0011 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19060 hp1 a0001 c0001 t0036 g0173 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19060 hp2 a0002 c0002 t0001 g0223 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19062 hp1 a0002 c0002 t0001 g0020 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19062 hp2 a0003 c0004 t0007 g0017 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19064 hp1 a0002 c0002 t0012 g0009 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19064 hp2 a0001 c0001 t0003 g0041 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19066 hp1 a0002 c0002 t0017 g0279 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19066 hp2 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19067 hp1 a0003 c0003 t0016 g0096 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19067 hp2 a0002 c0002 t0026 g0229 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19076 hp1 a0001 c0001 t0010 g0244 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19076 hp2 a0002 c0002 t0042 g0055 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19077 hp1 a0001 c0001 t0003 g0041 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19077 hp2 a0002 c0002 t0001 g0234 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19079 hp1 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19079 hp2 a0001 c0001 t0002 g0042 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19080 hp1 a0001 c0001 t0002 g0011 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19080 hp2 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19082 hp1 a0001 c0001 t0002 g0243 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19082 hp2 a0003 c0004 t0007 g0105 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19084 hp1 a0001 c0001 t0005 g0141 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19084 hp2 a0003 c0004 t0007 g0109 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19085 hp1 a0002 c0002 t0017 g0280 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19085 hp2 a0003 c0004 t0050 g0102 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19086 hp1 a0002 c0002 t0001 g0200 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19086 hp2 a0001 c0001 t0010 g0037 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19087 hp1 a0002 c0002 t0001 g0214 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19087 hp2 a0001 c0007 t0004 g0147 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19088 hp1 a0002 c0002 t0013 g0215 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19088 hp2 a0002 c0002 t0001 g0001 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19089 hp1 a0002 c0002 t0001 g0212 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19089 hp2 a0001 c0001 t0003 g0005 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19090 hp1 a0002 c0002 t0026 g0230 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19090 hp2 a0003 c0004 t0007 g0003 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19091 hp1 a0001 c0001 t0010 g0010 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19091 hp2 a0002 c0002 t0043 g0056 EAS JPT HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19240 hp1 a0001 c0001 t0004 g0129 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA19240 hp2 a0002 c0005 t0009 g0132 AFR YRI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20129 hp1 a0002 c0005 t0009 g0034 AFR ASW HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20129 hp2 a0001 c0001 t0004 g0035 AFR ASW HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20752 hp1 a0002 c0002 t0001 g0115 EUR TSI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20752 hp2 a0003 c0003 t0045 g0274 EUR TSI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20805 hp1 a0002 c0002 t0001 g0013 EUR TSI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20805 hp2 a0001 c0001 t0003 g0014 EUR TSI HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20905 hp1 a0001 c0001 t0002 g0002 SAS GIH HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA20905 hp2 a0002 c0002 t0009 g0209 SAS GIH HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01123 hp1 a0001 c0001 t0003 g0039 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG01123 hp2 a0001 c0001 t0005 g0189 AMR CLM HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02109 hp1 a0002 c0002 t0009 g0138 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02109 hp2 a0005 c0006 t0011 g0006 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02486 hp1 a0001 c0001 t0033 g0121 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02486 hp2 a0003 c0003 t0031 g0064 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02559 hp1 a0004 c0009 t0028 g0089 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG02559 hp2 a0002 c0002 t0006 g0271 AFR ACB HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03471 hp1 a0002 c0002 t0018 g0135 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG03471 hp2 a0005 c0006 t0011 g0006 AFR MSL HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG06807 hp1 a0004 c0008 t0027 g0070 AFR USA HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
HG06807 hp2 a0001 c0001 t0005 g0143 AFR USA HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA21309 hp1 a0002 c0002 t0009 g0272 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
NA21309 hp2 a0001 c0001 t0010 g0178 AFR LWK HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
homoSapiens_chm13v2 hp1 a0001 c0001 t0057 g0187 REF REF HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783
homoSapiens_grch38 hp1 a0003 c0003 t0008 g0266 REF REF HPS4_chr22_26445882_26488783 HPS4 chr22 26445882 26488783

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
chr22:26457867 C
C
 T
T
 2 a0008
a0011
a0008
a0011
 3 HG00423.hp1
NA18982.hp1
NA19009.hp2
HG00423.hp1
NA18982.hp1
NA19009.hp2
 missense_variant MODERATE c.1947G>A
c.1947G>A
 p.Met649Ile
p.Met649Ile
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/14 2535/5066 1947/2127 649/708 chr22 26457867
chr22:26457939 C
C
 A
A
 11 a0001
a0002
a0004
others(8): Show 
a0001
a0002
a0004
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1875G>T
c.1875G>T
 p.Gln625His
p.Gln625His
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/14 2463/5066 1875/2127 625/708 chr22 26457939
chr22:26458475 G
G
 A
A
 11 a0001
a0002
a0004
others(8): Show 
a0001
a0002
a0004
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1816C>T
c.1816C>T
 p.His606Tyr
p.His606Tyr
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/14 2404/5066 1816/2127 606/708 chr22 26458475
chr22:26463930 G
G
 A
A
 1 a0006
a0006
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 missense_variant MODERATE c.1700C>T
c.1700C>T
 p.Ala567Val
p.Ala567Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 2288/5066 1700/2127 567/708 chr22 26463930
chr22:26463976 C
C
 T
T
 10 a0001
a0002
a0007
others(7): Show 
a0001
a0002
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1654G>A
c.1654G>A
 p.Val552Met
p.Val552Met
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 2242/5066 1654/2127 552/708 chr22 26463976
chr22:26463990 C
C
 G
G
 1 a0008
a0008
 2 NA18982.hp1
NA19009.hp2
NA18982.hp1
NA19009.hp2
 missense_variant MODERATE c.1640G>C
c.1640G>C
 p.Cys547Ser
p.Cys547Ser
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 2228/5066 1640/2127 547/708 chr22 26463990
chr22:26464303 G
G
 C
C
 7 a0002
a0007
a0008
others(4): Show 
a0002
a0007
a0008
a0010
a0011
a0012
a0014
 135 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(132): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 missense_variant MODERATE c.1327C>G
c.1327C>G
 p.Leu443Val
p.Leu443Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1915/5066 1327/2127 443/708 chr22 26464303
chr22:26464569 G
G
 C
C
 1 a0001
a0001
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 missense_variant MODERATE c.1061C>G
c.1061C>G
 p.Ser354Cys
p.Ser354Cys
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1649/5066 1061/2127 354/708 chr22 26464569
chr22:26464570 A
A
 T
T
 1 a0001
a0001
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 missense_variant MODERATE c.1060T>A
c.1060T>A
 p.Ser354Thr
p.Ser354Thr
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1648/5066 1060/2127 354/708 chr22 26464570
chr22:26464646 C
C
 G
G
 1 a0010
a0010
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.984G>C
c.984G>C
 p.Leu328Phe
p.Leu328Phe
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1572/5066 984/2127 328/708 chr22 26464646
chr22:26465507 T
T
 A
A
 1 a0007
a0007
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 missense_variant MODERATE c.751A>T
c.751A>T
 p.Thr251Ser
p.Thr251Ser
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/14 1339/5066 751/2127 251/708 chr22 26465507
chr22:26465548 G
G
 A
A
 1 a0005
a0005
 6 HG02109.hp2
HG02145.hp2
HG02970.hp2
others(3): Show 
HG02109.hp2
HG02145.hp2
HG02970.hp2
HG03209.hp1
HG03471.hp2
NA19030.hp1
 missense_variant MODERATE c.710C>T
c.710C>T
 p.Ala237Val
p.Ala237Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/14 1298/5066 710/2127 237/708 chr22 26465548
chr22:26466246 T
T
 C
C
 10 a0001
a0002
a0007
others(7): Show 
a0001
a0002
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.686A>G
c.686A>G
 p.Glu229Gly
p.Glu229Gly
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/14 1274/5066 686/2127 229/708 chr22 26466246
chr22:26466252 G
G
 A
A
 1 a0009
a0009
 1 NA18939.hp2
NA18939.hp2
 missense_variant MODERATE c.680C>T
c.680C>T
 p.Thr227Met
p.Thr227Met
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/14 1268/5066 680/2127 227/708 chr22 26466252
chr22:26472843 G
G
 C
C
 1 a0012
a0012
 1 HG02074.hp1
HG02074.hp1
 missense_variant MODERATE c.373C>G
c.373C>G
 p.Leu125Val
p.Leu125Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/14 961/5066 373/2127 125/708 chr22 26472843
chr22:26477003 T
T
 A
A
 1 a0013
a0013
 1 HG02735.hp1
HG02735.hp1
 missense_variant MODERATE c.266A>T
c.266A>T
 p.Asp89Val
p.Asp89Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/14 854/5066 266/2127 89/708 chr22 26477003
chr22:26477019 T
T
 C
C
 1 a0014
a0014
 1 HG01175.hp2
HG01175.hp2
 missense_variant MODERATE c.250A>G
c.250A>G
 p.Ile84Val
p.Ile84Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/14 838/5066 250/2127 84/708 chr22 26477019

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
chr22:26453281 G
G
 A
A
 1 a0002c0018
a0002c0018
 1 HG03239.hp2
HG03239.hp2
 synonymous_variant LOW c.2079C>T
c.2079C>T
 p.Ser693Ser
p.Ser693Ser
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2667/5066 2079/2127 693/708 chr22 26453281
chr22:26457915 G
G
 A
A
 2 a0002c0005
a0010c0025
a0002c0005
a0010c0025
 11 HG01243.hp1
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp2
NA20129.hp1
 synonymous_variant LOW c.1899C>T
c.1899C>T
 p.Val633Val
p.Val633Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/14 2487/5066 1899/2127 633/708 chr22 26457915
chr22:26464538 T
T
 C
C
 1 a0003c0015
a0003c0015
 1 HG02717.hp1
HG02717.hp1
 synonymous_variant LOW c.1092A>G
c.1092A>G
 p.Gln364Gln
p.Gln364Gln
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1680/5066 1092/2127 364/708 chr22 26464538
chr22:26464547 G
G
 C
C
 1 a0003c0016
a0003c0016
 1 HG03654.hp2
HG03654.hp2
 synonymous_variant LOW c.1083C>G
c.1083C>G
 p.Val361Val
p.Val361Val
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1671/5066 1083/2127 361/708 chr22 26464547
chr22:26464685 G
G
 A
A
 1 a0002c0019
a0002c0019
 1 HG00673.hp2
HG00673.hp2
 synonymous_variant LOW c.945C>T
c.945C>T
 p.Asp315Asp
p.Asp315Asp
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/14 1533/5066 945/2127 315/708 chr22 26464685
chr22:26465517 A
A
 T
T
 1 a0001c0007
a0001c0007
 5 NA18959.hp1
NA18962.hp1
NA18990.hp2
others(2): Show 
NA18959.hp1
NA18962.hp1
NA18990.hp2
NA19056.hp1
NA19087.hp2
 synonymous_variant LOW c.741T>A
c.741T>A
 p.Pro247Pro
p.Pro247Pro
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/14 1329/5066 741/2127 247/708 chr22 26465517
chr22:26466236 C
C
 T
T
 1 a0003c0004
a0003c0004
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 synonymous_variant LOW c.696G>A
c.696G>A
 p.Pro232Pro
p.Pro232Pro
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/14 1284/5066 696/2127 232/708 chr22 26466236
chr22:26470745 G
G
 A
A
 1 a0002c0021
a0002c0021
 1 NA18971.hp1
NA18971.hp1
 synonymous_variant LOW c.570C>T
c.570C>T
 p.Leu190Leu
p.Leu190Leu
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/14 1158/5066 570/2127 190/708 chr22 26470745
chr22:26470757 C
C
 T
T
 1 a0004c0008
a0004c0008
 4 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(1): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG06807.hp1
 synonymous_variant LOW c.558G>A
c.558G>A
 p.Ser186Ser
p.Ser186Ser
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/14 1146/5066 558/2127 186/708 chr22 26470757
chr22:26472371 C
C
 T
T
 1 a0003c0014
a0003c0014
 1 HG02723.hp1
HG02723.hp1
 synonymous_variant LOW c.432G>A
c.432G>A
 p.Glu144Glu
p.Glu144Glu
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/14 1020/5066 432/2127 144/708 chr22 26472371
chr22:26481748 G
G
 A
A
 1 a0010c0025
a0010c0025
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.15C>T
c.15C>T
 p.Thr5Thr
p.Thr5Thr
 HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 603/5066 15/2127 5/708 chr22 26481748

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
chr22:26450964 T
T
 C
C
 2 a0002c0002t0079
a0002c0002t0080
a0002c0002t0079
a0002c0002t0080
 2 HG01496.hp1
NA18906.hp2
HG01496.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*2269A>G
c.*2269A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2269 chr22 26450964
chr22:26451024 A
A
 G
G
 1 a0006c0011t0022
a0006c0011t0022
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 3_prime_UTR_variant MODIFIER c.*2209T>C
c.*2209T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2209 chr22 26451024
chr22:26451207 C
C
 T
T
 1 a0003c0003t0051
a0003c0003t0051
 1 HG03453.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*2026G>A
c.*2026G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2026 chr22 26451207
chr22:26451210 T
T
 C
C
 1 a0003c0003t0030
a0003c0003t0030
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 3_prime_UTR_variant MODIFIER c.*2023A>G
c.*2023A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2023 chr22 26451210
chr22:26451217 G
G
 A
A
 1 a0002c0002t0060
a0002c0002t0060
 1 HG03927.hp2
HG03927.hp2
 3_prime_UTR_variant MODIFIER c.*2016C>T
c.*2016C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 2016 chr22 26451217
chr22:26451271 G
G
 A
A
 24 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(21): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0010
a0001c0001t0015
a0001c0001t0023
a0001c0001t0025
a0001c0001t0033
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0055
a0001c0001t0057
a0001c0001t0058
a0001c0001t0061
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0001c0001t0078
a0001c0007t0004
a0009c0020t0002
a0013c0023t0002
 163 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(160): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19064.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1962C>T
c.*1962C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1962 chr22 26451271
chr22:26451471 C
C
 T
T
 2 a0001c0001t0064
a0001c0001t0066
a0001c0001t0064
a0001c0001t0066
 2 HG01070.hp1
HG01261.hp2
HG01070.hp1
HG01261.hp2
 3_prime_UTR_variant MODIFIER c.*1762G>A
c.*1762G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1762 chr22 26451471
chr22:26451546 T
T
 C
C
 2 a0002c0002t0026
a0002c0002t0034
a0002c0002t0026
a0002c0002t0034
 5 HG02015.hp2
NA18959.hp2
NA19004.hp1
others(2): Show 
HG02015.hp2
NA18959.hp2
NA19004.hp1
NA19067.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*1687A>G
c.*1687A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1687 chr22 26451546
chr22:26451620 G
G
 T
T
 75 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(72): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0010
a0001c0001t0015
a0001c0001t0023
a0001c0001t0025
a0001c0001t0033
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0055
a0001c0001t0057
a0001c0001t0058
a0001c0001t0061
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0001c0001t0078
a0001c0007t0004
a0001c0010t0006
a0001c0010t0009
a0002c0002t0001
a0002c0002t0006
a0002c0002t0009
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0017
a0002c0002t0018
a0002c0002t0024
a0002c0002t0026
a0002c0002t0034
a0002c0002t0040
a0002c0002t0042
a0002c0002t0043
a0002c0002t0044
a0002c0002t0059
a0002c0002t0060
a0002c0002t0062
a0002c0002t0067
a0002c0002t0068
a0002c0002t0077
a0002c0002t0079
a0002c0002t0080
a0002c0002t0081
a0002c0005t0006
a0002c0005t0009
a0002c0005t0054
a0002c0018t0012
a0002c0019t0024
a0002c0021t0001
a0003c0003t0030
a0003c0003t0045
a0003c0003t0046
a0003c0003t0051
a0003c0004t0007
a0003c0004t0048
a0003c0004t0050
a0003c0004t0052
a0004c0008t0027
a0004c0008t0074
a0004c0009t0028
a0004c0009t0070
a0006c0011t0022
a0007c0013t0001
a0008c0012t0013
a0009c0020t0002
a0010c0025t0006
a0011c0017t0013
a0012c0022t0040
a0013c0023t0002
a0014c0024t0056
 339 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(336): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1613C>A
c.*1613C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1613 chr22 26451620
chr22:26451644 G
G
 T
T
 4 a0003c0004t0007
a0003c0004t0048
a0003c0004t0050
others(1): Show 
a0003c0004t0007
a0003c0004t0048
a0003c0004t0050
a0003c0004t0052
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*1589C>A
c.*1589C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1589 chr22 26451644
chr22:26451684 C
C
 T
T
 1 a0002c0002t0067
a0002c0002t0067
 1 HG03098.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*1549G>A
c.*1549G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1549 chr22 26451684
chr22:26451705 A
A
 C
C
 4 a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
others(1): Show 
a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
a0003c0014t0032
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*1528T>G
c.*1528T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1528 chr22 26451705
chr22:26451734 T
T
 C
C
 1 a0001c0001t0061
a0001c0001t0061
 1 HG02015.hp1
HG02015.hp1
 3_prime_UTR_variant MODIFIER c.*1499A>G
c.*1499A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1499 chr22 26451734
chr22:26451846 A
A
 T
T
 2 a0002c0002t0026
a0002c0002t0034
a0002c0002t0026
a0002c0002t0034
 5 HG02015.hp2
NA18959.hp2
NA19004.hp1
others(2): Show 
HG02015.hp2
NA18959.hp2
NA19004.hp1
NA19067.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*1387T>A
c.*1387T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1387 chr22 26451846
chr22:26451980 C
C
 T
T
 1 a0006c0011t0022
a0006c0011t0022
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 3_prime_UTR_variant MODIFIER c.*1253G>A
c.*1253G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1253 chr22 26451980
chr22:26451983 G
G
 A
A
 4 a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
others(1): Show 
a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
a0003c0014t0032
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*1250C>T
c.*1250C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1250 chr22 26451983
chr22:26451986 ACG
ACG
 A
A
 5 a0001c0001t0025
a0001c0001t0035
a0001c0001t0063
others(2): Show 
a0001c0001t0025
a0001c0001t0035
a0001c0001t0063
a0001c0001t0066
a0002c0002t0081
 8 HG00738.hp2
HG01261.hp2
HG02074.hp2
others(5): Show 
HG00738.hp2
HG01261.hp2
HG02074.hp2
HG03486.hp2
HG03669.hp2
NA18971.hp2
NA18972.hp2
NA18975.hp2
 3_prime_UTR_variant MODIFIER c.*1245_*1246delCG
c.*1245_*1246delCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1245 chr22 26451986
chr22:26451986 ACGCG
ACGCG
 A
A
 8 a0001c0001t0002
a0001c0001t0010
a0001c0001t0064
others(5): Show 
a0001c0001t0002
a0001c0001t0010
a0001c0001t0064
a0002c0002t0026
a0002c0002t0067
a0003c0003t0051
a0009c0020t0002
a0013c0023t0002
 53 HG00609.hp1
HG00642.hp1
HG01070.hp1
others(50): Show 
HG00609.hp1
HG00642.hp1
HG01070.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG02132.hp1
HG02135.hp2
HG02273.hp2
HG02300.hp1
HG02735.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG04115.hp1
NA18906.hp1
NA18939.hp2
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18956.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18973.hp1
NA18974.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19012.hp1
NA19054.hp1
NA19058.hp2
NA19067.hp2
NA19076.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19086.hp2
NA19090.hp1
NA19091.hp1
NA20905.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1243_*1246delCGCG
c.*1243_*1246delCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1243 chr22 26451986
chr22:26451986 ACGCGCG
ACGCGCG
 A
A
 9 a0001c0001t0003
a0001c0001t0015
a0001c0001t0041
others(6): Show 
a0001c0001t0003
a0001c0001t0015
a0001c0001t0041
a0002c0002t0013
a0002c0002t0034
a0002c0002t0044
a0002c0002t0062
a0008c0012t0013
a0011c0017t0013
 53 HG00423.hp1
HG01099.hp1
HG01106.hp2
others(50): Show 
HG00423.hp1
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01361.hp2
HG01952.hp2
HG01993.hp1
HG02015.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp1
HG02622.hp1
HG02647.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02970.hp1
HG03453.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18989.hp1
NA18989.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19077.hp1
NA19088.hp1
NA19089.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1241_*1246delCGCG
others(2): Show 
c.*1241_*1246delCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1241 chr22 26451986
chr22:26451986 ACGCGCGC
others(1): Show 
ACGCGCGCG
 A
A
 7 a0001c0001t0004
a0001c0007t0004
a0002c0002t0012
others(4): Show 
a0001c0001t0004
a0001c0007t0004
a0002c0002t0012
a0002c0002t0017
a0002c0002t0059
a0002c0002t0068
a0002c0018t0012
 52 HG00099.hp2
HG00544.hp1
HG00733.hp1
others(49): Show 
HG00099.hp2
HG00544.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp1
HG01081.hp2
HG01515.hp2
HG01517.hp2
HG01993.hp2
HG02132.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
NA18612.hp1
NA18945.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18970.hp2
NA18985.hp2
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18999.hp2
NA19000.hp2
NA19003.hp2
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp1
NA19085.hp1
NA19087.hp2
NA19240.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1239_*1246delCGCG
others(4): Show 
c.*1239_*1246delCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1239 chr22 26451986
chr22:26451986 ACGCGCGC
others(3): Show 
ACGCGCGCGCG
 A
A
 9 a0001c0001t0005
a0001c0001t0061
a0002c0002t0001
others(6): Show 
a0001c0001t0005
a0001c0001t0061
a0002c0002t0001
a0002c0002t0040
a0002c0002t0043
a0002c0002t0060
a0002c0021t0001
a0007c0013t0001
a0012c0022t0040
 72 HG00099.hp1
HG00140.hp1
HG00323.hp1
others(69): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp2
HG01257.hp2
HG01361.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG03041.hp2
HG03654.hp1
HG03704.hp1
HG03927.hp2
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18942.hp2
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18963.hp2
NA18971.hp1
NA18973.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA19002.hp1
NA19007.hp2
NA19009.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp1
NA19077.hp2
NA19079.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*1237_*1246delCGCG
others(6): Show 
c.*1237_*1246delCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1237 chr22 26451986
chr22:26451992 GCGCGCGC
others(9): Show 
GCGCGCGCGCGCGCACA
 G
G
 1 a0014c0024t0056
a0014c0024t0056
 1 HG01175.hp2
HG01175.hp2
 3_prime_UTR_variant MODIFIER c.*1225_*1240delTGTG
others(12): Show 
c.*1225_*1240delTGTGCGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1225 chr22 26451992
chr22:26451994 GCGCGCGC
others(5): Show 
GCGCGCGCGCGCA
 G
G
 8 a0001c0001t0058
a0001c0001t0078
a0001c0010t0006
others(5): Show 
a0001c0001t0058
a0001c0001t0078
a0001c0010t0006
a0002c0002t0006
a0002c0002t0014
a0002c0002t0042
a0002c0005t0006
a0010c0025t0006
 29 HG00140.hp2
HG01069.hp2
HG01070.hp2
others(26): Show 
HG00140.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01934.hp1
HG01981.hp2
HG02135.hp1
HG02148.hp1
HG02257.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG04199.hp2
NA19003.hp1
NA19012.hp2
NA19076.hp2
 3_prime_UTR_variant MODIFIER c.*1227_*1238delTGCG
others(8): Show 
c.*1227_*1238delTGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1227 chr22 26451994
chr22:26451994 GCGCGCGC
others(7): Show 
GCGCGCGCGCGCACA
 G
G
 5 a0001c0001t0033
a0001c0010t0009
a0002c0002t0009
others(2): Show 
a0001c0001t0033
a0001c0010t0009
a0002c0002t0009
a0002c0005t0009
a0004c0008t0074
 17 HG01168.hp2
HG01243.hp1
HG01884.hp1
others(14): Show 
HG01168.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02004.hp1
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02486.hp1
HG03098.hp2
HG03195.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1225_*1238delTGTG
others(10): Show 
c.*1225_*1238delTGTGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1225 chr22 26451994
chr22:26451994 GCGCGCGC
others(9): Show 
GCGCGCGCGCGCACACA
 G
G
 3 a0001c0001t0055
a0002c0005t0054
a0004c0008t0027
a0001c0001t0055
a0002c0005t0054
a0004c0008t0027
 5 HG01175.hp1
HG02004.hp2
HG02723.hp2
others(2): Show 
HG01175.hp1
HG02004.hp2
HG02723.hp2
HG02818.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*1223_*1238delTGTG
others(12): Show 
c.*1223_*1238delTGTGTGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1223 chr22 26451994
chr22:26451994 GCGCGCGC
others(11): Show 
GCGCGCGCGCGCACACACA
 G
G
 1 a0001c0001t0023
a0001c0001t0023
 3 HG00423.hp2
NA18990.hp1
NA18999.hp1
HG00423.hp2
NA18990.hp1
NA18999.hp1
 3_prime_UTR_variant MODIFIER c.*1221_*1238delTGTG
others(14): Show 
c.*1221_*1238delTGTGTGTGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1221 chr22 26451994
chr22:26451994 GCGCGCGC
others(13): Show 
GCGCGCGCGCGCACACACACA
 G
G
 1 a0004c0009t0070
a0004c0009t0070
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*1219_*1238delTGTG
others(16): Show 
c.*1219_*1238delTGTGTGTGTGCGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1219 chr22 26451994
chr22:26451995 C
C
 A
A
 1 a0001c0001t0065
a0001c0001t0065
 1 NA18963.hp1
NA18963.hp1
 3_prime_UTR_variant MODIFIER c.*1238G>T
c.*1238G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1238 chr22 26451995
chr22:26451995 C
C
 T
T
 1 a0003c0003t0072
a0003c0003t0072
 1 NA19043.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1238G>A
c.*1238G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1238 chr22 26451995
chr22:26451996 G
G
 A
A
 1 a0001c0001t0036
a0001c0001t0036
 2 NA18976.hp2
NA19060.hp1
NA18976.hp2
NA19060.hp1
 3_prime_UTR_variant MODIFIER c.*1237C>T
c.*1237C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1237 chr22 26451996
chr22:26451996 GCGCGCGC
others(3): Show 
GCGCGCGCGCA
 G
G
 3 a0001c0001t0057
a0002c0002t0024
a0002c0019t0024
a0001c0001t0057
a0002c0002t0024
a0002c0019t0024
 4 HG00438.hp1
HG00673.hp2
HG00741.hp2
others(1): Show 
HG00438.hp1
HG00673.hp2
HG00741.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1227_*1236delTGCG
others(6): Show 
c.*1227_*1236delTGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1227 chr22 26451996
chr22:26451996 GCGCGCGC
others(5): Show 
GCGCGCGCGCACA
 G
G
 2 a0002c0002t0080
a0004c0009t0028
a0002c0002t0080
a0004c0009t0028
 4 HG01496.hp1
HG02559.hp1
HG02615.hp2
others(1): Show 
HG01496.hp1
HG02559.hp1
HG02615.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*1225_*1236delTGTG
others(8): Show 
c.*1225_*1236delTGTGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1225 chr22 26451996
chr22:26451996 GCGCGCGC
others(7): Show 
GCGCGCGCGCACACA
 G
G
 3 a0002c0002t0018
a0002c0002t0077
a0002c0002t0079
a0002c0002t0018
a0002c0002t0077
a0002c0002t0079
 6 HG01884.hp2
HG01891.hp2
HG03209.hp2
others(3): Show 
HG01884.hp2
HG01891.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*1223_*1236delTGTG
others(10): Show 
c.*1223_*1236delTGTGTGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1223 chr22 26451996
chr22:26451996 GCGCGCGC
others(11): Show 
GCGCGCGCGCACACACACA
 G
G
 3 a0003c0003t0011
a0003c0015t0011
a0005c0006t0011
a0003c0003t0011
a0003c0015t0011
a0005c0006t0011
 11 HG02109.hp2
HG02145.hp2
HG02257.hp1
others(8): Show 
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02647.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03516.hp2
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*1219_*1236delTGTG
others(14): Show 
c.*1219_*1236delTGTGTGTGTGCGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1219 chr22 26451996
chr22:26451997 C
C
 A
A
 1 a0003c0004t0048
a0003c0004t0048
 1 NA18967.hp2
NA18967.hp2
 3_prime_UTR_variant MODIFIER c.*1236G>T
c.*1236G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1236 chr22 26451997
chr22:26451998 G
G
 A
A
 3 a0001c0001t0035
a0001c0001t0036
a0002c0002t0081
a0001c0001t0035
a0001c0001t0036
a0002c0002t0081
 5 HG00738.hp2
NA18972.hp2
NA18975.hp2
others(2): Show 
HG00738.hp2
NA18972.hp2
NA18975.hp2
NA18976.hp2
NA19060.hp1
 3_prime_UTR_variant MODIFIER c.*1235C>T
c.*1235C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1235 chr22 26451998
chr22:26451998 G
G
 T
T
 1 a0003c0003t0069
a0003c0003t0069
 1 NA19055.hp1
NA19055.hp1
 3_prime_UTR_variant MODIFIER c.*1235C>A
c.*1235C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1235 chr22 26451998
chr22:26451998 GCGCGCGC
others(9): Show 
GCGCGCGCACACACACA
 G
G
 2 a0003c0003t0021
a0006c0011t0022
a0003c0003t0021
a0006c0011t0022
 6 HG01256.hp1
HG01258.hp2
HG02630.hp1
others(3): Show 
HG01256.hp1
HG01258.hp2
HG02630.hp1
HG02886.hp1
HG02895.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*1219_*1234delTGTG
others(12): Show 
c.*1219_*1234delTGTGTGTGTGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1219 chr22 26451998
chr22:26451998 GCGCGCGC
others(11): Show 
GCGCGCGCACACACACACA
 G
G
 1 a0003c0003t0049
a0003c0003t0049
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*1217_*1234delTGTG
others(14): Show 
c.*1217_*1234delTGTGTGTGTGTGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1217 chr22 26451998
chr22:26451998 GCGCGCGC
others(13): Show 
GCGCGCGCACACACACACACA
 G
G
 1 a0003c0003t0047
a0003c0003t0047
 1 HG03486.hp1
HG03486.hp1
 3_prime_UTR_variant MODIFIER c.*1215_*1234delTGTG
others(16): Show 
c.*1215_*1234delTGTGTGTGTGTGTGCGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1215 chr22 26451998
chr22:26451999 C
C
 T
T
 1 a0003c0003t0075
a0003c0003t0075
 1 NA18940.hp1
NA18940.hp1
 3_prime_UTR_variant MODIFIER c.*1234G>A
c.*1234G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1234 chr22 26451999
chr22:26452000 G
G
 A
A
 10 a0001c0001t0002
a0001c0001t0025
a0001c0001t0035
others(7): Show 
a0001c0001t0002
a0001c0001t0025
a0001c0001t0035
a0001c0001t0036
a0001c0001t0066
a0002c0002t0026
a0002c0002t0067
a0002c0002t0081
a0009c0020t0002
a0013c0023t0002
 48 HG00609.hp1
HG00642.hp1
HG00738.hp2
others(45): Show 
HG00609.hp1
HG00642.hp1
HG00738.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02273.hp2
HG02300.hp1
HG02735.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG04115.hp1
NA18906.hp1
NA18939.hp2
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18956.hp1
NA18965.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18988.hp1
NA18998.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19054.hp1
NA19058.hp2
NA19060.hp1
NA19067.hp2
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19090.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1233C>T
c.*1233C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1233 chr22 26452000
chr22:26452000 GCGCGCAC
others(7): Show 
GCGCGCACACACACA
 G
G
 1 a0003c0004t0050
a0003c0004t0050
 1 NA19085.hp2
NA19085.hp2
 3_prime_UTR_variant MODIFIER c.*1219_*1232delTGTG
others(10): Show 
c.*1219_*1232delTGTGTGTGTGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1219 chr22 26452000
chr22:26452000 GCGCGCAC
others(9): Show 
GCGCGCACACACACACA
 G
G
 1 a0003c0004t0007
a0003c0004t0007
 18 HG00597.hp1
HG00609.hp2
HG04184.hp1
others(15): Show 
HG00597.hp1
HG00609.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*1217_*1232delTGTG
others(12): Show 
c.*1217_*1232delTGTGTGTGTGTGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1217 chr22 26452000
chr22:26452000 GCGCGCAC
others(13): Show 
GCGCGCACACACACACACACA
 G
G
 2 a0003c0003t0030
a0003c0003t0039
a0003c0003t0030
a0003c0003t0039
 4 HG01099.hp2
HG01167.hp2
HG02896.hp2
others(1): Show 
HG01099.hp2
HG01167.hp2
HG02896.hp2
HG02897.hp1
 3_prime_UTR_variant MODIFIER c.*1213_*1232delTGTG
others(16): Show 
c.*1213_*1232delTGTGTGTGTGTGTGTGCGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1213 chr22 26452000
chr22:26452002 G
G
 A
A
 20 a0001c0001t0002
a0001c0001t0003
a0001c0001t0010
others(17): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0010
a0001c0001t0025
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0002c0002t0013
a0002c0002t0026
a0002c0002t0034
a0002c0002t0067
a0002c0002t0081
a0008c0012t0013
a0009c0020t0002
a0011c0017t0013
a0013c0023t0002
 108 HG00423.hp1
HG00609.hp1
HG00642.hp1
others(105): Show 
HG00423.hp1
HG00609.hp1
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG02015.hp2
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02523.hp1
HG02622.hp1
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02970.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18956.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18982.hp1
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp1
NA19058.hp2
NA19060.hp1
NA19064.hp2
NA19067.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19086.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1231C>T
c.*1231C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1231 chr22 26452002
chr22:26452002 GCGCACAC
others(7): Show 
GCGCACACACACACA
 G
G
 1 a0003c0004t0052
a0003c0004t0052
 1 HG02056.hp2
HG02056.hp2
 3_prime_UTR_variant MODIFIER c.*1217_*1230delTGTG
others(10): Show 
c.*1217_*1230delTGTGTGTGTGTGCG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1217 chr22 26452002
chr22:26452003 C
C
 A
A
 1 a0002c0002t0081
a0002c0002t0081
 1 NA18972.hp2
NA18972.hp2
 3_prime_UTR_variant MODIFIER c.*1230G>T
c.*1230G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1230 chr22 26452003
chr22:26452004 G
G
 A
A
 29 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(26): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0010
a0001c0001t0015
a0001c0001t0025
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0001c0007t0004
a0002c0002t0012
a0002c0002t0013
a0002c0002t0017
a0002c0002t0026
a0002c0002t0034
a0002c0002t0044
a0002c0002t0062
a0002c0002t0067
a0002c0002t0081
a0002c0018t0012
a0003c0003t0051
a0008c0012t0013
a0009c0020t0002
a0011c0017t0013
a0013c0023t0002
 167 HG00099.hp2
HG00423.hp1
HG00544.hp1
others(164): Show 
HG00099.hp2
HG00423.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG01993.hp2
HG02015.hp2
HG02074.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1229C>T
c.*1229C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1229 chr22 26452004
chr22:26452004 GCA
GCA
 G
G
 3 a0003c0003t0029
a0003c0003t0038
a0003c0016t0038
a0003c0003t0029
a0003c0003t0038
a0003c0016t0038
 5 HG01358.hp2
HG03654.hp2
NA18965.hp1
others(2): Show 
HG01358.hp2
HG03654.hp2
NA18965.hp1
NA18972.hp1
NA18993.hp2
 3_prime_UTR_variant MODIFIER c.*1227_*1228delTG
c.*1227_*1228delTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1227 chr22 26452004
chr22:26452004 GCACA
GCACA
 G
G
 4 a0003c0003t0020
a0003c0003t0031
a0003c0003t0037
others(1): Show 
a0003c0003t0020
a0003c0003t0031
a0003c0003t0037
a0003c0003t0076
 9 HG01934.hp2
HG02148.hp2
HG02165.hp2
others(6): Show 
HG01934.hp2
HG02148.hp2
HG02165.hp2
HG02293.hp1
HG02486.hp2
HG02818.hp1
NA18946.hp2
NA18994.hp1
NA18997.hp2
 3_prime_UTR_variant MODIFIER c.*1225_*1228delTGTG
c.*1225_*1228delTGTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1225 chr22 26452004
chr22:26452004 GCACACA
GCACACA
 G
G
 3 a0003c0003t0019
a0003c0003t0032
a0003c0014t0032
a0003c0003t0019
a0003c0003t0032
a0003c0014t0032
 6 HG01358.hp1
HG01975.hp2
HG01981.hp1
others(3): Show 
HG01358.hp1
HG01975.hp2
HG01981.hp1
HG02723.hp1
HG02976.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*1223_*1228delTGTG
others(2): Show 
c.*1223_*1228delTGTGTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1223 chr22 26452004
chr22:26452004 GCACACAC
others(7): Show 
GCACACACACACACA
 G
G
 1 a0003c0004t0048
a0003c0004t0048
 1 NA18967.hp2
NA18967.hp2
 3_prime_UTR_variant MODIFIER c.*1215_*1228delTGTG
others(10): Show 
c.*1215_*1228delTGTGTGTGTGTGTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1215 chr22 26452004
chr22:26452004 GCACACAC
others(11): Show 
GCACACACACACACACACA
 G
G
 1 a0003c0003t0045
a0003c0003t0045
 1 NA20752.hp2
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*1211_*1228delTGTG
others(14): Show 
c.*1211_*1228delTGTGTGTGTGTGTGTGTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1211 chr22 26452004
chr22:26452004 GCACACAC
others(13): Show 
GCACACACACACACACACACA
 G
G
 1 a0003c0003t0046
a0003c0003t0046
 1 HG00741.hp1
HG00741.hp1
 3_prime_UTR_variant MODIFIER c.*1209_*1228delTGTG
others(16): Show 
c.*1209_*1228delTGTGTGTGTGTGTGTGTGTG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1209 chr22 26452004
chr22:26452006 A
A
 G
G
 5 a0003c0003t0016
a0003c0003t0071
a0003c0003t0072
others(2): Show 
a0003c0003t0016
a0003c0003t0071
a0003c0003t0072
a0003c0003t0073
a0003c0003t0075
 10 HG00597.hp2
HG01167.hp1
HG01192.hp2
others(7): Show 
HG00597.hp2
HG01167.hp1
HG01192.hp2
HG02451.hp2
HG04199.hp1
NA18940.hp1
NA18978.hp1
NA18992.hp1
NA19043.hp1
NA19067.hp1
 3_prime_UTR_variant MODIFIER c.*1227T>C
c.*1227T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1227 chr22 26452006
chr22:26452008 A
A
 G
G
 5 a0003c0003t0038
a0003c0003t0071
a0003c0003t0072
others(2): Show 
a0003c0003t0038
a0003c0003t0071
a0003c0003t0072
a0003c0003t0073
a0003c0016t0038
 5 HG02451.hp2
HG03654.hp2
NA18972.hp1
others(2): Show 
HG02451.hp2
HG03654.hp2
NA18972.hp1
NA18978.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1225T>C
c.*1225T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1225 chr22 26452008
chr22:26452010 A
A
 G
G
 4 a0003c0003t0031
a0003c0003t0037
a0003c0003t0071
others(1): Show 
a0003c0003t0031
a0003c0003t0037
a0003c0003t0071
a0003c0003t0076
 6 HG01934.hp2
HG02148.hp2
HG02293.hp1
others(3): Show 
HG01934.hp2
HG02148.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02818.hp1
 3_prime_UTR_variant MODIFIER c.*1223T>C
c.*1223T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1223 chr22 26452010
chr22:26452012 A
A
 G
G
 5 a0003c0003t0031
a0003c0003t0032
a0003c0003t0051
others(2): Show 
a0003c0003t0031
a0003c0003t0032
a0003c0003t0051
a0003c0003t0071
a0003c0014t0032
 6 HG02451.hp2
HG02486.hp2
HG02723.hp1
others(3): Show 
HG02451.hp2
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*1221T>C
c.*1221T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1221 chr22 26452012
chr22:26452014 A
A
 G
G
 1 a0003c0003t0053
a0003c0003t0053
 1 HG03041.hp1
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*1219T>C
c.*1219T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1219 chr22 26452014
chr22:26452024 A
A
 G
G
 1 a0003c0003t0045
a0003c0003t0045
 1 NA20752.hp2
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*1209T>C
c.*1209T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1209 chr22 26452024
chr22:26452026 A
A
 G
G
 2 a0003c0003t0045
a0003c0003t0046
a0003c0003t0045
a0003c0003t0046
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*1207T>C
c.*1207T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1207 chr22 26452026
chr22:26452044 T
T
 A
A
 1 a0003c0003t0039
a0003c0003t0039
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 3_prime_UTR_variant MODIFIER c.*1189A>T
c.*1189A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 1189 chr22 26452044
chr22:26452753 G
G
 A
A
 1 a0003c0004t0052
a0003c0004t0052
 1 HG02056.hp2
HG02056.hp2
 3_prime_UTR_variant MODIFIER c.*480C>T
c.*480C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 480 chr22 26452753
chr22:26452756 G
G
 A
A
 4 a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
others(1): Show 
a0003c0003t0031
a0003c0003t0032
a0003c0003t0053
a0003c0014t0032
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*477C>T
c.*477C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 477 chr22 26452756
chr22:26452987 G
G
 A
A
 1 a0003c0003t0076
a0003c0003t0076
 1 HG01934.hp2
HG01934.hp2
 3_prime_UTR_variant MODIFIER c.*246C>T
c.*246C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 246 chr22 26452987
chr22:26453005 T
T
 C
C
 1 a0002c0002t0068
a0002c0002t0068
 1 NA18970.hp2
NA18970.hp2
 3_prime_UTR_variant MODIFIER c.*228A>G
c.*228A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 228 chr22 26453005
chr22:26453164 C
C
 T
T
 1 a0003c0003t0069
a0003c0003t0069
 1 NA19055.hp1
NA19055.hp1
 3_prime_UTR_variant MODIFIER c.*69G>A
c.*69G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 14/14 69 chr22 26453164
chr22:26481947 T
T
 C
C
 1 a0006c0011t0022
a0006c0011t0022
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 5_prime_UTR_variant MODIFIER c.-185A>G
c.-185A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 185 chr22 26481947
chr22:26482015 G
G
 A
A
 62 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(59): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0010
a0001c0001t0015
a0001c0001t0023
a0001c0001t0025
a0001c0001t0033
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0055
a0001c0001t0057
a0001c0001t0058
a0001c0001t0061
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0001c0001t0078
a0001c0007t0004
a0001c0010t0006
a0001c0010t0009
a0002c0002t0001
a0002c0002t0006
a0002c0002t0009
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0017
a0002c0002t0018
a0002c0002t0024
a0002c0002t0026
a0002c0002t0034
a0002c0002t0040
a0002c0002t0042
a0002c0002t0043
a0002c0002t0044
a0002c0002t0059
a0002c0002t0060
a0002c0002t0062
a0002c0002t0067
a0002c0002t0068
a0002c0002t0077
a0002c0002t0079
a0002c0002t0080
a0002c0002t0081
a0002c0005t0006
a0002c0005t0009
a0002c0005t0054
a0002c0018t0012
a0002c0019t0024
a0002c0021t0001
a0007c0013t0001
a0008c0012t0013
a0009c0020t0002
a0010c0025t0006
a0011c0017t0013
a0012c0022t0040
a0013c0023t0002
a0014c0024t0056
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-253C>T
c.-253C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 chr22 26482015
chr22:26482058 A
A
 G
G
 81 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(78): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0010
a0001c0001t0015
a0001c0001t0023
a0001c0001t0025
a0001c0001t0033
a0001c0001t0035
a0001c0001t0036
a0001c0001t0041
a0001c0001t0055
a0001c0001t0057
a0001c0001t0058
a0001c0001t0061
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0066
a0001c0001t0078
a0001c0007t0004
a0001c0010t0006
a0001c0010t0009
a0002c0002t0001
a0002c0002t0006
a0002c0002t0009
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0017
a0002c0002t0018
a0002c0002t0024
a0002c0002t0026
a0002c0002t0034
a0002c0002t0040
a0002c0002t0042
a0002c0002t0043
a0002c0002t0044
a0002c0002t0059
a0002c0002t0060
a0002c0002t0062
a0002c0002t0067
a0002c0002t0068
a0002c0002t0077
a0002c0002t0079
a0002c0002t0080
a0002c0002t0081
a0002c0005t0006
a0002c0005t0009
a0002c0005t0054
a0002c0018t0012
a0002c0019t0024
a0002c0021t0001
a0003c0003t0011
a0003c0003t0021
a0003c0003t0030
a0003c0003t0031
a0003c0003t0032
a0003c0003t0045
a0003c0003t0046
a0003c0003t0047
a0003c0003t0049
a0003c0003t0051
a0003c0003t0053
a0003c0004t0007
a0003c0004t0048
a0003c0004t0050
a0003c0004t0052
a0003c0014t0032
a0003c0015t0011
a0005c0006t0011
a0006c0011t0022
a0007c0013t0001
a0008c0012t0013
a0009c0020t0002
a0010c0025t0006
a0011c0017t0013
a0012c0022t0040
a0013c0023t0002
a0014c0024t0056
 352 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(349): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-296T>C
c.-296T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 296 chr22 26482058
chr22:26482067 T
T
 C
C
 1 a0002c0002t0077
a0002c0002t0077
 1 HG01884.hp2
HG01884.hp2
 5_prime_UTR_variant MODIFIER c.-305A>G
c.-305A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 305 chr22 26482067
chr22:26482182 T
T
 C
C
 1 a0001c0001t0078
a0001c0001t0078
 1 HG03516.hp1
HG03516.hp1
 5_prime_UTR_variant MODIFIER c.-420A>G
c.-420A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/14 420 chr22 26482182
chr22:26483725 T
T
 C
C
 7 a0002c0002t0014
a0002c0002t0017
a0002c0002t0040
others(4): Show 
a0002c0002t0014
a0002c0002t0017
a0002c0002t0040
a0002c0002t0079
a0002c0002t0080
a0002c0002t0081
a0012c0022t0040
 18 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(15): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG02074.hp1
HG04199.hp2
NA18906.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 5_prime_UTR_variant MODIFIER c.-530A>G
c.-530A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/14 1963 chr22 26483725
chr22:26483749 G
G
 A
A
 1 a0001c0001t0041
a0001c0001t0041
 2 HG02622.hp1
NA18522.hp2
HG02622.hp1
NA18522.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-554C>T
c.-554C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/14 chr22 26483749
chr22:26483777 C
C
 T
T
 1 a0002c0002t0044
a0002c0002t0044
 1 NA18969.hp2
NA18969.hp2
 5_prime_UTR_variant MODIFIER c.-582G>A
c.-582G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/14 2015 chr22 26483777
chr22:26483780 A
A
 C
C
 2 a0002c0002t0042
a0002c0002t0043
a0002c0002t0042
a0002c0002t0043
 2 NA19076.hp2
NA19091.hp2
NA19076.hp2
NA19091.hp2
 5_prime_UTR_variant MODIFIER c.-585T>G
c.-585T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/14 2018 chr22 26483780

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
chr22:26453436 A
A
 G
G
 1 a0002c0002t0001g0205
a0002c0002t0001g0205
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.1956-32T>C
c.1956-32T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453436
chr22:26453645 G
G
 A
A
 1 a0002c0002t0012g0184
a0002c0002t0012g0184
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1956-241C>T
c.1956-241C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453645
chr22:26453660 C
C
 G
G
 1 a0008c0012t0013g0044
a0008c0012t0013g0044
 2 NA18982.hp1
NA19009.hp2
NA18982.hp1
NA19009.hp2
 intron_variant MODIFIER c.1956-256G>C
c.1956-256G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453660
chr22:26453700 T
T
 C
C
 241 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(238): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 339 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(336): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1956-296A>G
c.1956-296A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453700
chr22:26453855 C
C
 T
T
 8 a0002c0002t0006g0165
a0002c0002t0006g0271
a0002c0002t0009g0138
others(5): Show 
a0002c0002t0006g0165
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0077g0240
 10 HG01884.hp2
HG01891.hp2
HG02109.hp1
others(7): Show 
HG01884.hp2
HG01891.hp2
HG02109.hp1
HG02280.hp2
HG02559.hp2
HG02896.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
 intron_variant MODIFIER c.1956-451G>A
c.1956-451G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453855
chr22:26453907 G
G
 C
C
 1 a0001c0001t0003g0174
a0001c0001t0003g0174
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1956-503C>G
c.1956-503C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453907
chr22:26453939 C
C
 A
A
 2 a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0079g0276
a0002c0002t0080g0275
 2 HG01496.hp1
NA18906.hp2
HG01496.hp1
NA18906.hp2
 intron_variant MODIFIER c.1956-535G>T
c.1956-535G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26453939
chr22:26454015 C
C
 T
T
 1 a0004c0009t0028g0088
a0004c0009t0028g0088
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1956-611G>A
c.1956-611G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454015
chr22:26454016 G
G
 A
A
 1 a0003c0003t0021g0066
a0003c0003t0021g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1956-612C>T
c.1956-612C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454016
chr22:26454271 G
G
 A
A
 1 a0001c0001t0015g0152
a0001c0001t0015g0152
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.1956-867C>T
c.1956-867C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454271
chr22:26454527 T
T
 A
A
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.1956-1123A>T
c.1956-1123A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454527
chr22:26454555 C
C
 T
T
 1 a0002c0002t0001g0213
a0002c0002t0001g0213
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1956-1151G>A
c.1956-1151G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454555
chr22:26454924 T
T
 C
C
 2 a0002c0002t0014g0054
a0002c0002t0014g0286
a0002c0002t0014g0054
a0002c0002t0014g0286
 3 HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
 intron_variant MODIFIER c.1956-1520A>G
c.1956-1520A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454924
chr22:26454974 T
T
 C
C
 4 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
others(1): Show 
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0070g0090
 5 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(2): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1956-1570A>G
c.1956-1570A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26454974
chr22:26455115 C
C
 T
T
 1 a0001c0001t0003g0172
a0001c0001t0003g0172
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.1956-1711G>A
c.1956-1711G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455115
chr22:26455175 G
G
 A
A
 8 a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
others(5): Show 
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0010c0025t0006g0239
 11 HG01243.hp1
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1956-1771C>T
c.1956-1771C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455175
chr22:26455254 A
A
 T
T
 239 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(236): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 336 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(333): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1956-1850T>A
c.1956-1850T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455254
chr22:26455346 C
C
 T
T
 1 a0001c0001t0005g0110
a0001c0001t0005g0110
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1956-1942G>A
c.1956-1942G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455346
chr22:26455482 A
A
 G
G
 10 a0001c0001t0002g0148
a0001c0001t0002g0171
a0001c0001t0003g0039
others(7): Show 
a0001c0001t0002g0148
a0001c0001t0002g0171
a0001c0001t0003g0039
a0001c0001t0003g0142
a0001c0001t0003g0168
a0001c0001t0003g0190
a0001c0001t0004g0175
a0001c0001t0005g0141
a0001c0001t0005g0169
a0001c0001t0015g0170
 11 HG01123.hp1
HG01255.hp1
HG01261.hp1
others(8): Show 
HG01123.hp1
HG01255.hp1
HG01261.hp1
HG01433.hp2
HG01952.hp1
HG01993.hp2
NA18940.hp2
NA18967.hp1
NA19010.hp2
NA19055.hp2
NA19084.hp1
 intron_variant MODIFIER c.1956-2078T>C
c.1956-2078T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455482
chr22:26455578 G
G
 T
T
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.1956-2174C>A
c.1956-2174C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455578
chr22:26455596 G
G
 T
T
 1 a0003c0003t0021g0066
a0003c0003t0021g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1956-2192C>A
c.1956-2192C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455596
chr22:26455743 T
T
 TAA
TAA
 6 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
others(3): Show 
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
 7 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(4): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp2
HG06807.hp1
 intron_variant MODIFIER c.1955+2114_1955+211
others(6): Show 
c.1955+2114_1955+2115dupTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455743
chr22:26455744 A
A
 T
T
 1 a0001c0001t0003g0168
a0001c0001t0003g0168
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1955+2115T>A
c.1955+2115T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455744
chr22:26455862 A
A
 G
G
 224 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(221): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1955+1997T>C
c.1955+1997T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26455862
chr22:26456113 G
G
 C
C
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.1955+1746C>G
c.1955+1746C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456113
chr22:26456191 A
A
 G
G
 224 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(221): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1955+1668T>C
c.1955+1668T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456191
chr22:26456368 A
A
 T
T
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1955+1491T>A
c.1955+1491T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456368
chr22:26456417 T
T
 C
C
 4 a0003c0003t0019g0016
a0003c0003t0037g0091
a0003c0003t0037g0098
others(1): Show 
a0003c0003t0019g0016
a0003c0003t0037g0091
a0003c0003t0037g0098
a0003c0003t0076g0092
 6 HG01358.hp1
HG01934.hp2
HG01975.hp2
others(3): Show 
HG01358.hp1
HG01934.hp2
HG01975.hp2
HG01981.hp1
HG02148.hp2
HG02293.hp1
 intron_variant MODIFIER c.1955+1442A>G
c.1955+1442A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456417
chr22:26456617 C
C
 T
T
 3 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
 4 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(1): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG06807.hp1
 intron_variant MODIFIER c.1955+1242G>A
c.1955+1242G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456617
chr22:26456664 T
T
 G
G
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.1955+1195A>C
c.1955+1195A>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456664
chr22:26456711 GACTAATA
others(1): Show 
GACTAATAT
 G
G
 224 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(221): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1955+1140_1955+114
others(12): Show 
c.1955+1140_1955+1147delATATTAGT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456711
chr22:26456891 G
G
 A
A
 3 a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
 3 HG02559.hp1
HG02615.hp2
HG02717.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp2
 intron_variant MODIFIER c.1955+968C>T
c.1955+968C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456891
chr22:26456960 C
C
 A
A
 3 a0001c0001t0002g0247
a0001c0001t0003g0014
a0001c0001t0005g0248
a0001c0001t0002g0247
a0001c0001t0003g0014
a0001c0001t0005g0248
 6 HG00323.hp1
HG01099.hp1
HG01361.hp2
others(3): Show 
HG00323.hp1
HG01099.hp1
HG01361.hp2
HG01433.hp1
HG02258.hp2
NA20805.hp2
 intron_variant MODIFIER c.1955+899G>T
c.1955+899G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26456960
chr22:26457203 C
C
 T
T
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1955+656G>A
c.1955+656G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457203
chr22:26457209 A
A
 AC
AC
 204 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(201): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0139
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0285
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 299 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(296): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1955+649dupG
c.1955+649dupG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457209
chr22:26457210 C
C
 CCT
CCT
 26 a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
others(23): Show 
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0258
a0001c0001t0003g0142
a0001c0001t0003g0176
a0001c0001t0003g0193
a0001c0001t0004g0146
a0001c0001t0005g0141
a0001c0001t0033g0121
a0001c0001t0036g0155
a0001c0001t0078g0241
a0002c0002t0001g0212
a0002c0002t0001g0221
a0002c0002t0006g0116
a0002c0002t0014g0283
a0002c0002t0017g0279
a0002c0002t0024g0206
a0002c0002t0026g0229
a0002c0002t0059g0231
a0003c0004t0007g0028
a0003c0004t0007g0105
a0003c0004t0007g0109
a0006c0011t0022g0030
a0006c0011t0022g0108
 28 HG00438.hp1
HG00642.hp1
HG00733.hp2
others(25): Show 
HG00438.hp1
HG00642.hp1
HG00733.hp2
HG01256.hp1
HG01258.hp2
HG01433.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02630.hp1
HG03516.hp1
HG04199.hp2
NA18940.hp2
NA18950.hp1
NA18956.hp2
NA18976.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp2
NA19000.hp2
NA19066.hp1
NA19067.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
 intron_variant MODIFIER c.1955+648_1955+649i
others(4): Show 
c.1955+648_1955+649insAG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457210
chr22:26457210 C
C
 CCTT
CCTT
 6 a0001c0001t0005g0110
a0002c0002t0009g0138
a0003c0003t0030g0029
others(3): Show 
a0001c0001t0005g0110
a0002c0002t0009g0138
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0051g0107
a0003c0004t0007g0104
 7 HG01099.hp2
HG01167.hp2
HG01361.hp1
others(4): Show 
HG01099.hp2
HG01167.hp2
HG01361.hp1
HG02109.hp1
HG03453.hp2
NA18976.hp1
NA20752.hp2
 intron_variant MODIFIER c.1955+648_1955+649i
others(5): Show 
c.1955+648_1955+649insAAG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457210
chr22:26457210 CT
CT
 C
C
 18 a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
others(15): Show 
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0003t0053g0061
a0003c0003t0071g0086
a0003c0003t0072g0085
a0003c0014t0032g0060
a0003c0015t0011g0069
a0005c0006t0011g0006
a0005c0006t0011g0067
 25 HG02109.hp2
HG02145.hp2
HG02257.hp1
others(22): Show 
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02451.hp2
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1955+648delA
c.1955+648delA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457210
chr22:26457211 T
T
 C
C
 3 a0001c0001t0010g0178
a0001c0007t0004g0147
a0002c0002t0014g0286
a0001c0001t0010g0178
a0001c0007t0004g0147
a0002c0002t0014g0286
 3 HG01256.hp2
NA19087.hp2
NA21309.hp2
HG01256.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.1955+648A>G
c.1955+648A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457211
chr22:26457232 T
T
 C
C
 1 a0001c0001t0004g0175
a0001c0001t0004g0175
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.1955+627A>G
c.1955+627A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457232
chr22:26457631 T
T
 C
C
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.1955+228A>G
c.1955+228A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457631
chr22:26457650 A
A
 G
G
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1955+209T>C
c.1955+209T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457650
chr22:26457657 G
G
 T
T
 1 a0001c0001t0004g0035
a0001c0001t0004g0035
 2 HG02976.hp1
NA20129.hp2
HG02976.hp1
NA20129.hp2
 intron_variant MODIFIER c.1955+202C>A
c.1955+202C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457657
chr22:26457709 G
G
 A
A
 8 a0002c0002t0006g0165
a0002c0002t0006g0271
a0002c0002t0009g0138
others(5): Show 
a0002c0002t0006g0165
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0077g0240
 10 HG01884.hp2
HG01891.hp2
HG02109.hp1
others(7): Show 
HG01884.hp2
HG01891.hp2
HG02109.hp1
HG02280.hp2
HG02559.hp2
HG02896.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
 intron_variant MODIFIER c.1955+150C>T
c.1955+150C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457709
chr22:26457782 G
G
 A
A
 1 a0003c0003t0045g0274
a0003c0003t0045g0274
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1955+77C>T
c.1955+77C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457782
chr22:26457788 T
T
 C
C
 2 a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0039g0268
a0003c0003t0039g0269
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.1955+71A>G
c.1955+71A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457788
chr22:26457821 G
G
 A
A
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1955+38C>T
c.1955+38C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457821
chr22:26457832 G
G
 A
A
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.1955+27C>T
c.1955+27C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457832
chr22:26457841 C
C
 T
T
 2 a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0079g0276
a0002c0002t0080g0275
 2 HG01496.hp1
NA18906.hp2
HG01496.hp1
NA18906.hp2
 intron_variant MODIFIER c.1955+18G>A
c.1955+18G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 13/13 chr22 26457841
chr22:26458000 A
A
 G
G
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.1847-33T>C
c.1847-33T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/13 chr22 26458000
chr22:26458014 T
T
 C
C
 241 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(238): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 339 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(336): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1847-47A>G
c.1847-47A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/13 chr22 26458014
chr22:26458087 C
C
 T
T
 2 a0002c0002t0001g0208
a0002c0002t0006g0207
a0002c0002t0001g0208
a0002c0002t0006g0207
 2 HG03669.hp1
HG03704.hp1
HG03669.hp1
HG03704.hp1
 intron_variant MODIFIER c.1847-120G>A
c.1847-120G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/13 chr22 26458087
chr22:26458106 C
C
 T
T
 1 a0002c0002t0009g0272
a0002c0002t0009g0272
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1847-139G>A
c.1847-139G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/13 chr22 26458106
chr22:26458150 C
C
 T
T
 1 a0002c0002t0017g0278
a0002c0002t0017g0278
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.1847-183G>A
c.1847-183G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 12/13 chr22 26458150
chr22:26458716 T
T
 C
C
 224 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(221): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1714-139A>G
c.1714-139A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458716
chr22:26458750 G
G
 A
A
 7 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
others(4): Show 
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
 8 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(5): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1714-173C>T
c.1714-173C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458750
chr22:26458794 C
C
 T
T
 3 a0001c0001t0002g0247
a0001c0001t0003g0014
a0001c0001t0005g0248
a0001c0001t0002g0247
a0001c0001t0003g0014
a0001c0001t0005g0248
 6 HG00323.hp1
HG01099.hp1
HG01361.hp2
others(3): Show 
HG00323.hp1
HG01099.hp1
HG01361.hp2
HG01433.hp1
HG02258.hp2
NA20805.hp2
 intron_variant MODIFIER c.1714-217G>A
c.1714-217G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458794
chr22:26458797 G
G
 A
A
 1 a0002c0002t0001g0210
a0002c0002t0001g0210
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1714-220C>T
c.1714-220C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458797
chr22:26458820 C
C
 CG
CG
 7 a0001c0001t0002g0255
a0001c0001t0002g0257
a0001c0001t0003g0176
others(4): Show 
a0001c0001t0002g0255
a0001c0001t0002g0257
a0001c0001t0003g0176
a0001c0001t0004g0046
a0001c0001t0004g0146
a0001c0001t0010g0195
a0001c0001t0015g0177
 8 HG02895.hp2
HG02897.hp2
NA18945.hp1
others(5): Show 
HG02895.hp2
HG02897.hp2
NA18945.hp1
NA18949.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp1
NA19054.hp1
 intron_variant MODIFIER c.1714-244dupC
c.1714-244dupC
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458820
chr22:26458821 G
G
 GA
GA
 10 a0002c0002t0001g0117
a0002c0002t0001g0214
a0002c0002t0018g0135
others(7): Show 
a0002c0002t0001g0117
a0002c0002t0001g0214
a0002c0002t0018g0135
a0002c0002t0026g0230
a0002c0002t0059g0231
a0003c0003t0008g0077
a0003c0003t0016g0096
a0003c0003t0020g0071
a0003c0003t0030g0029
a0003c0003t0051g0107
 11 HG01099.hp2
HG01167.hp2
HG02055.hp2
others(8): Show 
HG01099.hp2
HG01167.hp2
HG02055.hp2
HG03453.hp2
HG03471.hp1
NA18974.hp2
NA18994.hp1
NA19000.hp2
NA19067.hp1
NA19087.hp1
NA19090.hp1
 intron_variant MODIFIER c.1714-245dupT
c.1714-245dupT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458821
chr22:26458822 A
A
 G
G
 114 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(111): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0256
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0002c0002t0012g0233
a0007c0013t0001g0032
a0009c0020t0002g0154
a0013c0023t0002g0264
 165 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(162): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18946.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19064.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1714-245T>C
c.1714-245T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458822
chr22:26458965 GA
GA
 G
G
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.1714-389delT
c.1714-389delT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26458965
chr22:26459071 G
G
 T
T
 1 a0002c0002t0024g0206
a0002c0002t0024g0206
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1714-494C>A
c.1714-494C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459071
chr22:26459110 C
C
 T
T
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.1714-533G>A
c.1714-533G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459110
chr22:26459190 C
C
 T
T
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.1714-613G>A
c.1714-613G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459190
chr22:26459274 C
C
 T
T
 11 a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
others(8): Show 
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.1714-697G>A
c.1714-697G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459274
chr22:26459717 C
C
 A
A
 1 a0002c0002t0026g0211
a0002c0002t0026g0211
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1714-1140G>T
c.1714-1140G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459717
chr22:26459797 C
C
 G
G
 1 a0004c0009t0070g0090
a0004c0009t0070g0090
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1714-1220G>C
c.1714-1220G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459797
chr22:26459820 C
C
 T
T
 2 a0002c0002t0006g0196
a0002c0002t0009g0272
a0002c0002t0006g0196
a0002c0002t0009g0272
 2 HG02622.hp2
NA21309.hp1
HG02622.hp2
NA21309.hp1
 intron_variant MODIFIER c.1714-1243G>A
c.1714-1243G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459820
chr22:26459949 A
A
 T
T
 1 a0003c0004t0007g0104
a0003c0004t0007g0104
 1 NA18976.hp1
NA18976.hp1
 intron_variant MODIFIER c.1714-1372T>A
c.1714-1372T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26459949
chr22:26460111 C
C
 T
T
 1 a0003c0003t0038g0075
a0003c0003t0038g0075
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1714-1534G>A
c.1714-1534G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460111
chr22:26460118 T
T
 C
C
 3 a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
 4 HG02886.hp1
HG02895.hp1
HG03486.hp1
others(1): Show 
HG02886.hp1
HG02895.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.1714-1541A>G
c.1714-1541A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460118
chr22:26460165 T
T
 G
G
 1 a0001c0001t0041g0288
a0001c0001t0041g0288
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1714-1588A>C
c.1714-1588A>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460165
chr22:26460393 C
C
 T
T
 1 a0001c0001t0004g0120
a0001c0001t0004g0120
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1714-1816G>A
c.1714-1816G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460393
chr22:26460404 C
C
 T
T
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1714-1827G>A
c.1714-1827G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460404
chr22:26460474 C
C
 T
T
 18 a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
others(15): Show 
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0272
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0077g0240
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0010c0025t0006g0239
 23 HG01243.hp1
HG01884.hp1
HG01884.hp2
others(20): Show 
HG01243.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1714-1897G>A
c.1714-1897G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460474
chr22:26460496 A
A
 G
G
 2 a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0237
a0002c0002t0001g0238
 2 HG01516.hp2
HG03041.hp2
HG01516.hp2
HG03041.hp2
 intron_variant MODIFIER c.1714-1919T>C
c.1714-1919T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460496
chr22:26460541 G
G
 A
A
 1 a0003c0003t0016g0094
a0003c0003t0016g0094
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.1714-1964C>T
c.1714-1964C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460541
chr22:26460551 A
A
 G
G
 1 a0002c0002t0012g0204
a0002c0002t0012g0204
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1714-1974T>C
c.1714-1974T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460551
chr22:26460772 C
C
 T
T
 17 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
others(14): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0013g0045
a0002c0002t0013g0215
a0002c0002t0044g0057
a0002c0002t0062g0186
a0002c0002t0067g0197
a0007c0013t0001g0032
a0008c0012t0013g0044
a0011c0017t0013g0185
 21 HG00423.hp1
HG00733.hp1
HG01516.hp1
others(18): Show 
HG00423.hp1
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02523.hp1
HG02683.hp2
HG03098.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp2
NA18968.hp1
NA18969.hp2
NA18982.hp1
NA18989.hp2
NA19009.hp2
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.1714-2195G>A
c.1714-2195G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460772
chr22:26460974 C
C
 A
A
 1 a0004c0008t0074g0087
a0004c0008t0074g0087
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1714-2397G>T
c.1714-2397G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26460974
chr22:26461009 T
T
 C
C
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1714-2432A>G
c.1714-2432A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461009
chr22:26461160 C
C
 T
T
 1 a0003c0003t0031g0064
a0003c0003t0031g0064
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1714-2583G>A
c.1714-2583G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461160
chr22:26461309 G
G
 A
A
 2 a0003c0003t0011g0023
a0003c0003t0049g0068
a0003c0003t0011g0023
a0003c0003t0049g0068
 3 HG02647.hp2
HG02965.hp2
HG03130.hp2
HG02647.hp2
HG02965.hp2
HG03130.hp2
 intron_variant MODIFIER c.1713+2608C>T
c.1713+2608C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461309
chr22:26461621 G
G
 A
A
 1 a0002c0002t0009g0140
a0002c0002t0009g0140
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1713+2296C>T
c.1713+2296C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461621
chr22:26461633 G
G
 A
A
 218 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(215): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0051g0107
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 303 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(300): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+2284C>T
c.1713+2284C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461633
chr22:26461649 G
G
 C
C
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+2268C>G
c.1713+2268C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461649
chr22:26461692 A
A
 G
G
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1713+2225T>C
c.1713+2225T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26461692
chr22:26462126 CA
CA
 C
C
 224 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(221): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0049g0068
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+1790delT
c.1713+1790delT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462126
chr22:26462129 A
A
 G
G
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.1713+1788T>C
c.1713+1788T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462129
chr22:26462142 A
A
 G
G
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+1775T>C
c.1713+1775T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462142
chr22:26462371 G
G
 T
T
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+1546C>A
c.1713+1546C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462371
chr22:26462441 T
T
 C
C
 1 a0002c0002t0009g0140
a0002c0002t0009g0140
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1713+1476A>G
c.1713+1476A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462441
chr22:26462779 A
A
 G
G
 4 a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0071g0086
others(1): Show 
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0071g0086
a0003c0003t0072g0085
 4 HG02451.hp2
HG02896.hp2
HG02897.hp1
others(1): Show 
HG02451.hp2
HG02896.hp2
HG02897.hp1
NA19043.hp1
 intron_variant MODIFIER c.1713+1138T>C
c.1713+1138T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462779
chr22:26462850 A
A
 G
G
 1 a0001c0001t0015g0162
a0001c0001t0015g0162
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1713+1067T>C
c.1713+1067T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462850
chr22:26462868 G
G
 A
A
 10 a0002c0002t0001g0001
a0002c0002t0001g0212
a0002c0002t0001g0213
others(7): Show 
a0002c0002t0001g0001
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0235
a0002c0002t0006g0202
a0002c0002t0006g0217
a0002c0002t0013g0201
a0002c0002t0059g0231
 20 HG00438.hp2
HG01934.hp1
HG02071.hp1
others(17): Show 
HG00438.hp2
HG01934.hp1
HG02071.hp1
HG02148.hp1
HG02273.hp1
HG02293.hp2
HG04204.hp1
NA18942.hp2
NA18949.hp2
NA18960.hp1
NA18963.hp2
NA18978.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp2
NA19079.hp1
NA19087.hp1
NA19088.hp2
NA19089.hp1
 intron_variant MODIFIER c.1713+1049C>T
c.1713+1049C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462868
chr22:26462911 T
T
 C
C
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.1713+1006A>G
c.1713+1006A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26462911
chr22:26463120 T
T
 C
C
 101 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(98): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0014c0024t0056g0224
 135 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(132): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1713+797A>G
c.1713+797A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463120
chr22:26463441 C
C
 T
T
 8 a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
others(5): Show 
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0010c0025t0006g0239
 11 HG01243.hp1
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1713+476G>A
c.1713+476G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463441
chr22:26463499 G
G
 T
T
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+418C>A
c.1713+418C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463499
chr22:26463558 A
A
 C
C
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1713+359T>G
c.1713+359T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463558
chr22:26463610 A
A
 G
G
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.1713+307T>C
c.1713+307T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463610
chr22:26463643 T
T
 C
C
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1713+274A>G
c.1713+274A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463643
chr22:26463736 C
C
 G
G
 10 a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
others(7): Show 
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 20 HG00597.hp1
HG02056.hp2
HG04184.hp1
others(17): Show 
HG00597.hp1
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.1713+181G>C
c.1713+181G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463736
chr22:26463834 G
G
 A
A
 2 a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0041g0287
a0001c0001t0041g0288
 2 HG02622.hp1
NA18522.hp2
HG02622.hp1
NA18522.hp2
 intron_variant MODIFIER c.1713+83C>T
c.1713+83C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 11/13 chr22 26463834
chr22:26464971 A
A
 G
G
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.804-145T>C
c.804-145T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/13 chr22 26464971
chr22:26465239 A
A
 G
G
 7 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
others(4): Show 
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
 8 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(5): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.803+216T>C
c.803+216T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/13 chr22 26465239
chr22:26465320 C
C
 A
A
 1 a0003c0003t0016g0082
a0003c0003t0016g0082
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.803+135G>T
c.803+135G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/13 chr22 26465320
chr22:26465350 G
G
 A
A
 1 a0007c0013t0001g0032
a0007c0013t0001g0032
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.803+105C>T
c.803+105C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/13 chr22 26465350
chr22:26465426 C
C
 A
A
 1 a0003c0003t0031g0063
a0003c0003t0031g0063
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.803+29G>T
c.803+29G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 10/13 chr22 26465426
chr22:26465579 A
A
 G
G
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.707-28T>C
c.707-28T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26465579
chr22:26465605 C
C
 T
T
 1 a0002c0002t0017g0277
a0002c0002t0017g0277
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.707-54G>A
c.707-54G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26465605
chr22:26465755 T
T
 C
C
 38 a0002c0002t0001g0001
a0002c0002t0001g0020
a0002c0002t0001g0048
others(35): Show 
a0002c0002t0001g0001
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0009g0209
a0002c0002t0012g0009
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0201
a0002c0002t0024g0206
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0068g0267
a0002c0018t0012g0218
a0002c0019t0024g0232
 56 HG00438.hp1
HG00438.hp2
HG00673.hp2
others(53): Show 
HG00438.hp1
HG00438.hp2
HG00673.hp2
HG00733.hp2
HG01515.hp1
HG01934.hp1
HG02015.hp2
HG02071.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02293.hp2
HG02523.hp2
HG02683.hp1
HG03239.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp2
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18973.hp2
NA18978.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19067.hp2
NA19077.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA20905.hp2
 intron_variant MODIFIER c.707-204A>G
c.707-204A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26465755
chr22:26466004 G
G
 A
A
 4 a0001c0001t0004g0046
a0001c0001t0005g0189
a0001c0001t0057g0187
others(1): Show 
a0001c0001t0004g0046
a0001c0001t0005g0189
a0001c0001t0057g0187
a0001c0001t0058g0188
 5 HG01069.hp2
HG01123.hp2
HG02895.hp2
others(2): Show 
HG01069.hp2
HG01123.hp2
HG02895.hp2
HG02897.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.706+222C>T
c.706+222C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26466004
chr22:26466075 G
G
 A
A
 50 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(47): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0009g0209
a0002c0002t0012g0009
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0201
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0068g0267
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0014c0024t0056g0224
 72 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(69): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp2
HG01175.hp2
HG01515.hp1
HG01516.hp2
HG01934.hp1
HG02015.hp2
HG02071.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02293.hp2
HG02523.hp2
HG02683.hp1
HG02698.hp1
HG03041.hp2
HG03239.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.706+151C>T
c.706+151C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26466075
chr22:26466187 C
C
 A
A
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.706+39G>T
c.706+39G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26466187
chr22:26466190 C
C
 T
T
 3 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 intron_variant MODIFIER c.706+36G>A
c.706+36G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26466190
chr22:26466218 C
C
 G
G
 5 a0003c0003t0008g0072
a0003c0003t0008g0077
a0003c0003t0008g0093
others(2): Show 
a0003c0003t0008g0072
a0003c0003t0008g0077
a0003c0003t0008g0093
a0003c0003t0019g0076
a0003c0003t0038g0075
 5 NA18950.hp2
NA18960.hp2
NA18972.hp1
others(2): Show 
NA18950.hp2
NA18960.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
 splice_region_variant&intron_variant LOW c.706+8G>C
c.706+8G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 9/13 chr22 26466218
chr22:26466433 T
T
 A
A
 1 a0007c0013t0001g0032
a0007c0013t0001g0032
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.670-171A>T
c.670-171A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466433
chr22:26466471 C
C
 A
A
 6 a0002c0002t0013g0045
a0002c0002t0013g0215
a0002c0002t0044g0057
others(3): Show 
a0002c0002t0013g0045
a0002c0002t0013g0215
a0002c0002t0044g0057
a0002c0002t0062g0186
a0008c0012t0013g0044
a0011c0017t0013g0185
 8 HG00423.hp1
HG02523.hp1
NA18968.hp1
others(5): Show 
HG00423.hp1
HG02523.hp1
NA18968.hp1
NA18969.hp2
NA18982.hp1
NA18989.hp2
NA19009.hp2
NA19088.hp1
 intron_variant MODIFIER c.670-209G>T
c.670-209G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466471
chr22:26466659 C
C
 T
T
 1 a0002c0005t0009g0132
a0002c0005t0009g0132
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.670-397G>A
c.670-397G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466659
chr22:26466719 A
A
 AATGCTAT
others(20): Show 
AATGCTATACCCAATCTCTCGTTTGTTC
 5 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
others(2): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
a0002c0002t0012g0114
a0007c0013t0001g0032
 7 HG00733.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02683.hp2
HG03688.hp2
NA20752.hp1
 intron_variant MODIFIER c.670-484_670-458dup
others(27): Show 
c.670-484_670-458dupGAACAAACGAGAGATTGGGTATAGCAT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466719
chr22:26466806 T
T
 C
C
 259 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(256): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0030g0029
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0003t0051g0107
a0003c0003t0053g0061
a0003c0003t0071g0086
a0003c0003t0072g0085
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0003c0014t0032g0060
a0003c0015t0011g0069
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0005c0006t0011g0006
a0005c0006t0011g0067
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 364 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(361): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.670-544A>G
c.670-544A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466806
chr22:26466839 A
A
 C
C
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.670-577T>G
c.670-577T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466839
chr22:26466846 C
C
 A
A
 3 a0001c0001t0002g0038
a0001c0001t0003g0164
a0001c0001t0003g0182
a0001c0001t0002g0038
a0001c0001t0003g0164
a0001c0001t0003g0182
 4 HG02647.hp1
HG03195.hp2
NA18522.hp1
others(1): Show 
HG02647.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.670-584G>T
c.670-584G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26466846
chr22:26467066 G
G
 T
T
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.670-804C>A
c.670-804C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467066
chr22:26467127 C
C
 T
T
 215 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(212): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 300 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(297): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.670-865G>A
c.670-865G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467127
chr22:26467175 A
A
 G
G
 4 a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
others(1): Show 
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
 5 HG00741.hp1
HG01099.hp2
HG01167.hp2
others(2): Show 
HG00741.hp1
HG01099.hp2
HG01167.hp2
HG03453.hp2
NA20752.hp2
 intron_variant MODIFIER c.670-913T>C
c.670-913T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467175
chr22:26467280 T
T
 C
C
 13 a0001c0001t0003g0157
a0001c0001t0005g0144
a0003c0004t0007g0003
others(10): Show 
a0001c0001t0003g0157
a0001c0001t0005g0144
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 23 HG00597.hp1
HG00609.hp2
HG00673.hp1
others(20): Show 
HG00597.hp1
HG00609.hp2
HG00673.hp1
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19010.hp1
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.670-1018A>G
c.670-1018A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467280
chr22:26467516 G
G
 A
A
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.669+1035C>T
c.669+1035C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467516
chr22:26467593 T
T
 C
C
 219 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(216): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 305 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(302): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.669+958A>G
c.669+958A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467593
chr22:26467673 A
A
 G
G
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.669+878T>C
c.669+878T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467673
chr22:26467697 C
C
 T
T
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.669+854G>A
c.669+854G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467697
chr22:26467893 A
A
 T
T
 3 a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0012g0220
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0012g0220
 3 NA18953.hp2
NA19003.hp1
NA19012.hp2
NA18953.hp2
NA19003.hp1
NA19012.hp2
 intron_variant MODIFIER c.669+658T>A
c.669+658T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467893
chr22:26467965 C
C
 T
T
 3 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
 3 HG00741.hp1
HG03453.hp2
NA20752.hp2
HG00741.hp1
HG03453.hp2
NA20752.hp2
 intron_variant MODIFIER c.669+586G>A
c.669+586G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26467965
chr22:26468001 C
C
 G
G
 4 a0003c0003t0016g0082
a0003c0003t0029g0059
a0003c0003t0029g0074
others(1): Show 
a0003c0003t0016g0082
a0003c0003t0029g0059
a0003c0003t0029g0074
a0003c0003t0073g0073
 4 HG00597.hp2
NA18965.hp1
NA18978.hp1
others(1): Show 
HG00597.hp2
NA18965.hp1
NA18978.hp1
NA18993.hp2
 intron_variant MODIFIER c.669+550G>C
c.669+550G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468001
chr22:26468005 C
C
 T
T
 3 a0001c0001t0004g0156
a0001c0001t0010g0137
a0001c0001t0036g0155
a0001c0001t0004g0156
a0001c0001t0010g0137
a0001c0001t0036g0155
 3 HG03239.hp1
NA18976.hp2
NA19012.hp1
HG03239.hp1
NA18976.hp2
NA19012.hp1
 intron_variant MODIFIER c.669+546G>A
c.669+546G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468005
chr22:26468101 T
T
 C
C
 4 a0001c0001t0005g0144
a0003c0003t0008g0081
a0003c0003t0016g0096
others(1): Show 
a0001c0001t0005g0144
a0003c0003t0008g0081
a0003c0003t0016g0096
a0003c0003t0075g0095
 4 HG00673.hp1
NA18939.hp1
NA18940.hp1
others(1): Show 
HG00673.hp1
NA18939.hp1
NA18940.hp1
NA19067.hp1
 intron_variant MODIFIER c.669+450A>G
c.669+450A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468101
chr22:26468108 G
G
 A
A
 4 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
others(1): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
a0002c0002t0012g0114
 5 HG00733.hp1
HG01981.hp2
HG02683.hp2
others(2): Show 
HG00733.hp1
HG01981.hp2
HG02683.hp2
HG03688.hp2
NA20752.hp1
 intron_variant MODIFIER c.669+443C>T
c.669+443C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468108
chr22:26468163 A
A
 C
C
 1 a0004c0008t0027g0027
a0004c0008t0027g0027
 2 HG01175.hp1
HG02004.hp2
HG01175.hp1
HG02004.hp2
 intron_variant MODIFIER c.669+388T>G
c.669+388T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468163
chr22:26468190 ACCGTG
ACCGTG
 A
A
 25 a0001c0001t0005g0124
a0002c0002t0079g0276
a0002c0002t0080g0275
others(22): Show 
a0001c0001t0005g0124
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0005t0009g0133
a0003c0003t0008g0012
a0003c0003t0008g0083
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0016g0025
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0003t0071g0086
a0003c0003t0072g0085
a0003c0015t0011g0069
a0004c0008t0027g0070
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0005c0006t0011g0006
a0005c0006t0011g0067
 36 HG00639.hp2
HG00735.hp2
HG01069.hp1
others(33): Show 
HG00639.hp2
HG00735.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01257.hp2
HG01496.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.669+356_669+360del
others(5): Show 
c.669+356_669+360delCACGG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468190
chr22:26468235 G
G
 A
A
 1 a0002c0002t0013g0215
a0002c0002t0013g0215
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.669+316C>T
c.669+316C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468235
chr22:26468429 T
T
 C
C
 16 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
others(13): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0013g0045
a0002c0002t0013g0215
a0002c0002t0044g0057
a0002c0002t0062g0186
a0007c0013t0001g0032
a0008c0012t0013g0044
a0011c0017t0013g0185
 20 HG00423.hp1
HG00733.hp1
HG01516.hp1
others(17): Show 
HG00423.hp1
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02523.hp1
HG02683.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp2
NA18968.hp1
NA18969.hp2
NA18982.hp1
NA18989.hp2
NA19009.hp2
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.669+122A>G
c.669+122A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468429
chr22:26468431 C
C
 T
T
 2 a0002c0002t0006g0196
a0002c0002t0009g0272
a0002c0002t0006g0196
a0002c0002t0009g0272
 2 HG02622.hp2
NA21309.hp1
HG02622.hp2
NA21309.hp1
 intron_variant MODIFIER c.669+120G>A
c.669+120G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 8/13 chr22 26468431
chr22:26468692 A
A
 G
G
 222 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(219): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 309 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(306): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.597-69T>C
c.597-69T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26468692
chr22:26468763 A
A
 G
G
 10 a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
others(7): Show 
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0272
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0077g0240
 12 HG01884.hp2
HG01891.hp2
HG02109.hp1
others(9): Show 
HG01884.hp2
HG01891.hp2
HG02109.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02896.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.597-140T>C
c.597-140T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26468763
chr22:26468950 A
A
 T
T
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.597-327T>A
c.597-327T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26468950
chr22:26469051 C
C
 T
T
 4 a0001c0001t0004g0035
a0001c0001t0004g0128
a0001c0001t0004g0129
others(1): Show 
a0001c0001t0004g0035
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
 5 HG02258.hp1
HG02280.hp1
HG02976.hp1
others(2): Show 
HG02258.hp1
HG02280.hp1
HG02976.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.597-428G>A
c.597-428G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469051
chr22:26469074 T
T
 C
C
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.597-451A>G
c.597-451A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469074
chr22:26469088 A
A
 G
G
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.597-465T>C
c.597-465T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469088
chr22:26469092 G
G
 A
A
 1 a0001c0001t0010g0123
a0001c0001t0010g0123
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.597-469C>T
c.597-469C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469092
chr22:26469264 T
T
 G
G
 3 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 intron_variant MODIFIER c.597-641A>C
c.597-641A>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469264
chr22:26469272 T
T
 C
C
 223 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(220): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 310 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(307): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.597-649A>G
c.597-649A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469272
chr22:26469283 C
C
 CA
CA
 190 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(187): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0018g0019
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0016g0082
a0003c0003t0016g0097
a0003c0003t0020g0084
a0003c0003t0031g0064
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0103
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0013c0023t0002g0264
a0014c0024t0056g0224
 281 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(278): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.597-661dupT
c.597-661dupT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469283
chr22:26469283 C
C
 CAA
CAA
 31 a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0003g0190
others(28): Show 
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0003g0190
a0001c0001t0004g0161
a0001c0001t0023g0260
a0001c0001t0055g0160
a0002c0002t0001g0048
a0002c0002t0001g0117
a0002c0002t0001g0216
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0012g0233
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0135
a0002c0002t0040g0284
a0002c0002t0079g0276
a0002c0002t0080g0275
a0003c0004t0007g0104
a0003c0004t0052g0106
a0012c0022t0040g0282
 35 HG00140.hp2
HG00423.hp2
HG00438.hp2
others(32): Show 
HG00140.hp2
HG00423.hp2
HG00438.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02630.hp2
HG02723.hp2
HG03471.hp1
HG03688.hp1
HG04184.hp2
HG04199.hp2
NA18906.hp2
NA18949.hp1
NA18953.hp1
NA18967.hp1
NA18976.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18991.hp2
NA18999.hp2
NA19003.hp2
NA19060.hp2
NA19066.hp1
NA19077.hp2
NA19085.hp1
 intron_variant MODIFIER c.597-662_597-661dup
others(2): Show 
c.597-662_597-661dupTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469283
chr22:26469283 C
C
 CAAA
CAAA
 7 a0001c0001t0003g0157
a0001c0001t0004g0156
a0001c0001t0005g0144
others(4): Show 
a0001c0001t0003g0157
a0001c0001t0004g0156
a0001c0001t0005g0144
a0001c0001t0010g0137
a0001c0001t0036g0155
a0001c0001t0078g0241
a0002c0002t0081g0281
 7 HG00673.hp1
HG03239.hp1
HG03516.hp1
others(4): Show 
HG00673.hp1
HG03239.hp1
HG03516.hp1
NA18972.hp2
NA18976.hp2
NA19010.hp1
NA19012.hp1
 intron_variant MODIFIER c.597-663_597-661dup
others(3): Show 
c.597-663_597-661dupTTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469283
chr22:26469486 G
G
 A
A
 2 a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0041g0287
a0001c0001t0041g0288
 2 HG02622.hp1
NA18522.hp2
HG02622.hp1
NA18522.hp2
 intron_variant MODIFIER c.597-863C>T
c.597-863C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469486
chr22:26469500 C
C
 T
T
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.597-877G>A
c.597-877G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469500
chr22:26469560 G
G
 A
A
 1 a0002c0002t0009g0272
a0002c0002t0009g0272
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.597-937C>T
c.597-937C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469560
chr22:26469670 G
G
 A
A
 3 a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
 4 HG02886.hp1
HG02895.hp1
HG03486.hp1
others(1): Show 
HG02886.hp1
HG02895.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.597-1047C>T
c.597-1047C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469670
chr22:26469680 G
G
 A
A
 3 a0001c0001t0002g0159
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0002g0159
a0001c0001t0003g0158
a0001c0001t0003g0191
 3 HG02735.hp2
HG03492.hp2
HG03942.hp1
HG02735.hp2
HG03492.hp2
HG03942.hp1
 intron_variant MODIFIER c.596+1039C>T
c.596+1039C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469680
chr22:26469694 A
A
 G
G
 1 a0002c0002t0060g0227
a0002c0002t0060g0227
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.596+1025T>C
c.596+1025T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469694
chr22:26469701 AG
AG
 A
A
 12 a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
others(9): Show 
a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0003g0190
a0001c0001t0003g0192
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0035g0270
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 17 HG00423.hp2
HG02135.hp2
HG02615.hp1
others(14): Show 
HG00423.hp2
HG02135.hp2
HG02615.hp1
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
NA18946.hp1
NA18967.hp1
NA18974.hp1
NA18975.hp2
NA18988.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19058.hp2
NA19080.hp1
 intron_variant MODIFIER c.596+1017delC
c.596+1017delC
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469701
chr22:26469704 A
A
 G
G
 12 a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
others(9): Show 
a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0003g0190
a0001c0001t0003g0192
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0035g0270
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 17 HG00423.hp2
HG02135.hp2
HG02615.hp1
others(14): Show 
HG00423.hp2
HG02135.hp2
HG02615.hp1
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
NA18946.hp1
NA18967.hp1
NA18974.hp1
NA18975.hp2
NA18988.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19058.hp2
NA19080.hp1
 intron_variant MODIFIER c.596+1015T>C
c.596+1015T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469704
chr22:26469710 A
A
 T
T
 2 a0003c0003t0008g0072
a0004c0008t0027g0070
a0003c0003t0008g0072
a0004c0008t0027g0070
 2 HG06807.hp1
NA18960.hp2
HG06807.hp1
NA18960.hp2
 intron_variant MODIFIER c.596+1009T>A
c.596+1009T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469710
chr22:26469710 AAT
AAT
 A
A
 220 a0001c0001t0002g0002
a0001c0001t0002g0038
a0001c0001t0002g0042
others(217): Show 
a0001c0001t0002g0002
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 312 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(309): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.596+1007_596+1008d
others(4): Show 
c.596+1007_596+1008delAT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469710
chr22:26469712 T
T
 A
A
 12 a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
others(9): Show 
a0001c0001t0002g0011
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0003g0190
a0001c0001t0003g0192
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0035g0270
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 17 HG00423.hp2
HG02135.hp2
HG02615.hp1
others(14): Show 
HG00423.hp2
HG02135.hp2
HG02615.hp1
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
NA18946.hp1
NA18967.hp1
NA18974.hp1
NA18975.hp2
NA18988.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19058.hp2
NA19080.hp1
 intron_variant MODIFIER c.596+1007A>T
c.596+1007A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469712
chr22:26469837 G
G
 A
A
 13 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(10): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0081g0281
a0012c0022t0040g0282
 16 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(13): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG02074.hp1
HG04199.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.596+882C>T
c.596+882C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469837
chr22:26469974 C
C
 T
T
 10 a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
others(7): Show 
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0272
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0077g0240
 12 HG01884.hp2
HG01891.hp2
HG02109.hp1
others(9): Show 
HG01884.hp2
HG01891.hp2
HG02109.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02896.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.596+745G>A
c.596+745G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26469974
chr22:26470007 G
G
 A
A
 100 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(97): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0014c0024t0056g0224
 134 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(131): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.596+712C>T
c.596+712C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470007
chr22:26470022 A
A
 G
G
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.596+697T>C
c.596+697T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470022
chr22:26470089 C
C
 T
T
 4 a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0005g0008
others(1): Show 
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0005g0008
a0001c0001t0005g0145
 8 HG00544.hp2
HG02165.hp1
NA18954.hp2
others(5): Show 
HG00544.hp2
HG02165.hp1
NA18954.hp2
NA18984.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA19009.hp1
 intron_variant MODIFIER c.596+630G>A
c.596+630G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470089
chr22:26470117 C
C
 G
G
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.596+602G>C
c.596+602G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470117
chr22:26470206 C
C
 T
T
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.596+513G>A
c.596+513G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470206
chr22:26470463 G
G
 A
A
 1 a0004c0009t0070g0090
a0004c0009t0070g0090
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.596+256C>T
c.596+256C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470463
chr22:26470570 G
G
 A
A
 2 a0002c0002t0006g0202
a0002c0002t0006g0217
a0002c0002t0006g0202
a0002c0002t0006g0217
 2 HG01934.hp1
HG02148.hp1
HG01934.hp1
HG02148.hp1
 intron_variant MODIFIER c.596+149C>T
c.596+149C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 7/13 chr22 26470570
chr22:26470934 G
G
 A
A
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.502-121C>T
c.502-121C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26470934
chr22:26471113 G
G
 C
C
 1 a0001c0001t0005g0127
a0001c0001t0005g0127
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.502-300C>G
c.502-300C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471113
chr22:26471148 C
C
 T
T
 2 a0005c0006t0011g0006
a0005c0006t0011g0067
a0005c0006t0011g0006
a0005c0006t0011g0067
 6 HG02109.hp2
HG02145.hp2
HG02970.hp2
others(3): Show 
HG02109.hp2
HG02145.hp2
HG02970.hp2
HG03209.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.502-335G>A
c.502-335G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471148
chr22:26471149 G
G
 T
T
 1 a0001c0001t0005g0144
a0001c0001t0005g0144
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.502-336C>A
c.502-336C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471149
chr22:26471255 T
T
 C
C
 1 a0001c0001t0010g0178
a0001c0001t0010g0178
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.502-442A>G
c.502-442A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471255
chr22:26471492 C
C
 T
T
 1 a0001c0001t0005g0143
a0001c0001t0005g0143
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.502-679G>A
c.502-679G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471492
chr22:26471524 G
G
 A
A
 101 a0001c0001t0002g0261
a0002c0002t0001g0001
a0002c0002t0001g0013
others(98): Show 
a0001c0001t0002g0261
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0014c0024t0056g0224
 135 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(132): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18974.hp1
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.502-711C>T
c.502-711C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471524
chr22:26471658 T
T
 C
C
 2 a0002c0002t0006g0196
a0002c0002t0009g0272
a0002c0002t0006g0196
a0002c0002t0009g0272
 2 HG02622.hp2
NA21309.hp1
HG02622.hp2
NA21309.hp1
 intron_variant MODIFIER c.501+644A>G
c.501+644A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471658
chr22:26471689 C
C
 T
T
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.501+613G>A
c.501+613G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471689
chr22:26471844 A
A
 T
T
 1 a0002c0002t0001g0203
a0002c0002t0001g0203
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.501+458T>A
c.501+458T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26471844
chr22:26472171 G
G
 A
A
 1 a0001c0001t0035g0262
a0001c0001t0035g0262
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.501+131C>T
c.501+131C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26472171
chr22:26472188 G
G
 A
A
 1 a0002c0018t0012g0218
a0002c0018t0012g0218
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.501+114C>T
c.501+114C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26472188
chr22:26472266 T
T
 C
C
 1 a0004c0009t0070g0090
a0004c0009t0070g0090
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.501+36A>G
c.501+36A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 6/13 chr22 26472266
chr22:26472524 C
C
 T
T
 8 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
others(5): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0007c0013t0001g0032
 10 HG00733.hp1
HG01516.hp1
HG01517.hp1
others(7): Show 
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02683.hp2
HG03688.hp2
NA20752.hp1
 intron_variant MODIFIER c.385-106G>A
c.385-106G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/13 chr22 26472524
chr22:26472577 C
C
 T
T
 8 a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
others(5): Show 
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0010c0025t0006g0239
 11 HG01243.hp1
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.385-159G>A
c.385-159G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/13 chr22 26472577
chr22:26472580 G
G
 T
T
 1 a0001c0001t0004g0166
a0001c0001t0004g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.385-162C>A
c.385-162C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/13 chr22 26472580
chr22:26472740 G
G
 A
A
 11 a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
others(8): Show 
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.384+92C>T
c.384+92C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/13 chr22 26472740
chr22:26472782 G
G
 A
A
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.384+50C>T
c.384+50C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 5/13 chr22 26472782
chr22:26473373 T
T
 C
C
 2 a0003c0003t0011g0024
a0003c0015t0011g0069
a0003c0003t0011g0024
a0003c0015t0011g0069
 3 HG02257.hp1
HG02717.hp1
HG03516.hp2
HG02257.hp1
HG02717.hp1
HG03516.hp2
 intron_variant MODIFIER c.277-434A>G
c.277-434A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473373
chr22:26473417 G
G
 A
A
 7 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
others(4): Show 
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0006g0031
a0002c0002t0012g0114
 9 HG00733.hp1
HG01981.hp2
HG02615.hp1
others(6): Show 
HG00733.hp1
HG01981.hp2
HG02615.hp1
HG02683.hp2
HG02922.hp2
HG02965.hp1
HG03098.hp2
HG03688.hp2
NA20752.hp1
 intron_variant MODIFIER c.277-478C>T
c.277-478C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473417
chr22:26473467 C
C
 T
T
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.277-528G>A
c.277-528G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473467
chr22:26473604 G
G
 A
A
 1 a0002c0002t0009g0272
a0002c0002t0009g0272
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.277-665C>T
c.277-665C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473604
chr22:26473686 C
C
 T
T
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.277-747G>A
c.277-747G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473686
chr22:26473708 A
A
 C
C
 3 a0001c0001t0004g0161
a0001c0001t0055g0160
a0001c0001t0078g0241
a0001c0001t0004g0161
a0001c0001t0055g0160
a0001c0001t0078g0241
 3 HG02630.hp2
HG02723.hp2
HG03516.hp1
HG02630.hp2
HG02723.hp2
HG03516.hp1
 intron_variant MODIFIER c.277-769T>G
c.277-769T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473708
chr22:26473868 T
T
 C
C
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.277-929A>G
c.277-929A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26473868
chr22:26474023 T
T
 C
C
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.277-1084A>G
c.277-1084A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474023
chr22:26474032 T
T
 C
C
 1 a0002c0002t0079g0276
a0002c0002t0079g0276
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.277-1093A>G
c.277-1093A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474032
chr22:26474046 A
A
 G
G
 7 a0002c0002t0001g0183
a0002c0002t0012g0184
a0002c0002t0013g0045
others(4): Show 
a0002c0002t0001g0183
a0002c0002t0012g0184
a0002c0002t0013g0045
a0002c0002t0044g0057
a0002c0002t0062g0186
a0008c0012t0013g0044
a0011c0017t0013g0185
 9 HG00423.hp1
HG02523.hp1
HG03654.hp1
others(6): Show 
HG00423.hp1
HG02523.hp1
HG03654.hp1
HG03704.hp2
NA18968.hp1
NA18969.hp2
NA18982.hp1
NA18989.hp2
NA19009.hp2
 intron_variant MODIFIER c.277-1107T>C
c.277-1107T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474046
chr22:26474254 A
A
 G
G
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.277-1315T>C
c.277-1315T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474254
chr22:26474288 A
A
 T
T
 1 a0002c0002t0006g0202
a0002c0002t0006g0202
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.277-1349T>A
c.277-1349T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474288
chr22:26474380 GA
GA
 G
G
 103 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(100): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0007c0013t0001g0032
a0008c0012t0013g0044
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0014c0024t0056g0224
 138 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(135): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.277-1442delT
c.277-1442delT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474380
chr22:26474381 A
A
 G
G
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.277-1442T>C
c.277-1442T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474381
chr22:26474515 A
A
 T
T
 1 a0003c0003t0030g0029
a0003c0003t0030g0029
 2 HG01099.hp2
HG01167.hp2
HG01099.hp2
HG01167.hp2
 intron_variant MODIFIER c.277-1576T>A
c.277-1576T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474515
chr22:26474536 T
T
 C
C
 114 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(111): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0002c0002t0006g0153
a0009c0020t0002g0154
a0013c0023t0002g0264
 164 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(161): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18940.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19064.hp2
NA19076.hp1
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.277-1597A>G
c.277-1597A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474536
chr22:26474579 T
T
 C
C
 25 a0003c0003t0008g0007
a0003c0003t0008g0072
a0003c0003t0008g0077
others(22): Show 
a0003c0003t0008g0007
a0003c0003t0008g0072
a0003c0003t0008g0077
a0003c0003t0008g0081
a0003c0003t0008g0093
a0003c0003t0016g0082
a0003c0003t0016g0094
a0003c0003t0016g0096
a0003c0003t0016g0097
a0003c0003t0019g0016
a0003c0003t0019g0076
a0003c0003t0020g0026
a0003c0003t0020g0071
a0003c0003t0020g0084
a0003c0003t0029g0059
a0003c0003t0029g0074
a0003c0003t0029g0079
a0003c0003t0037g0091
a0003c0003t0037g0098
a0003c0003t0038g0075
a0003c0003t0069g0078
a0003c0003t0073g0073
a0003c0003t0075g0095
a0003c0003t0076g0092
a0003c0016t0038g0080
 32 HG00597.hp2
HG01358.hp1
HG01358.hp2
others(29): Show 
HG00597.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp2
HG01975.hp2
HG01981.hp1
HG02071.hp2
HG02148.hp2
HG02165.hp2
HG02293.hp1
HG03017.hp2
HG03654.hp2
HG03831.hp1
HG04199.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18950.hp2
NA18960.hp2
NA18965.hp1
NA18972.hp1
NA18974.hp2
NA18978.hp1
NA18981.hp1
NA18983.hp1
NA18984.hp1
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18997.hp2
NA19055.hp1
NA19067.hp1
 intron_variant MODIFIER c.277-1640A>G
c.277-1640A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474579
chr22:26474643 C
C
 T
T
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.277-1704G>A
c.277-1704G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474643
chr22:26474713 T
T
 C
C
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18965.hp2
NA18965.hp2
 intron_variant MODIFIER c.277-1774A>G
c.277-1774A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474713
chr22:26474820 A
A
 G
G
 7 a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
others(4): Show 
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0081g0281
a0012c0022t0040g0282
 8 HG02074.hp1
NA18953.hp1
NA18972.hp2
others(5): Show 
HG02074.hp1
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.277-1881T>C
c.277-1881T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474820
chr22:26474949 G
G
 GTT
GTT
 8 a0001c0001t0002g0038
a0001c0001t0003g0164
a0001c0001t0003g0182
others(5): Show 
a0001c0001t0002g0038
a0001c0001t0003g0164
a0001c0001t0003g0182
a0001c0001t0004g0161
a0001c0001t0015g0162
a0001c0001t0025g0163
a0001c0001t0055g0160
a0001c0001t0078g0241
 9 HG02630.hp2
HG02647.hp1
HG02723.hp2
others(6): Show 
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.277-2011_277-2010i
others(4): Show 
c.277-2011_277-2010insAA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26474949
chr22:26475019 A
A
 G
G
 45 a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
others(42): Show 
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0003g0005
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0004g0004
a0001c0001t0004g0035
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0198
a0001c0001t0005g0008
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0015g0152
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0036g0155
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0002c0002t0006g0153
a0009c0020t0002g0154
 63 HG00544.hp1
HG00544.hp2
HG00639.hp1
others(60): Show 
HG00544.hp1
HG00544.hp2
HG00639.hp1
HG00673.hp1
HG01081.hp2
HG01106.hp1
HG01168.hp1
HG01192.hp1
HG01257.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02056.hp1
HG02135.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02922.hp1
HG02976.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18939.hp2
NA18954.hp2
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18973.hp1
NA18976.hp2
NA18983.hp2
NA18984.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA19009.hp1
NA19010.hp1
NA19012.hp1
NA19056.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.276+1974T>C
c.276+1974T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475019
chr22:26475102 C
C
 T
T
 219 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(216): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0051g0107
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 305 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(302): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.276+1891G>A
c.276+1891G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475102
chr22:26475347 C
C
 CT
CT
 49 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(46): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0199
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0009g0209
a0002c0002t0012g0009
a0002c0002t0012g0204
a0002c0002t0012g0233
a0002c0002t0013g0215
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0005t0009g0134
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0020g0071
a0003c0004t0052g0106
a0004c0008t0027g0027
a0004c0008t0027g0070
a0014c0024t0056g0224
 74 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(71): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG01175.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02293.hp2
HG02523.hp2
HG02683.hp1
HG02698.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.276+1645dupA
c.276+1645dupA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475347
chr22:26475347 C
C
 CTT
CTT
 10 a0002c0002t0001g0200
a0002c0002t0013g0201
a0002c0002t0024g0226
others(7): Show 
a0002c0002t0001g0200
a0002c0002t0013g0201
a0002c0002t0024g0226
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0054g0125
a0010c0025t0006g0239
 13 HG00741.hp2
HG01243.hp1
HG01884.hp1
others(10): Show 
HG00741.hp2
HG01243.hp1
HG01884.hp1
HG02055.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA18978.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.276+1644_276+1645d
others(4): Show 
c.276+1644_276+1645dupAA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475347
chr22:26475347 CT
CT
 C
C
 112 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(109): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0131
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0014g0285
a0002c0002t0017g0280
a0003c0003t0008g0083
a0003c0003t0020g0084
a0003c0003t0021g0066
a0003c0003t0039g0269
a0003c0003t0051g0107
a0009c0020t0002g0154
a0013c0023t0002g0264
 162 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(159): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18993.hp1
NA18994.hp2
NA18998.hp2
NA19000.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19064.hp2
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.276+1645delA
c.276+1645delA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475347
chr22:26475347 CTT
CTT
 C
C
 5 a0001c0001t0003g0180
a0001c0001t0004g0128
a0001c0001t0004g0129
others(2): Show 
a0001c0001t0003g0180
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0007t0004g0043
 6 HG02258.hp1
HG02280.hp1
NA18747.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
NA18747.hp1
NA18959.hp1
NA18990.hp2
NA19240.hp1
 intron_variant MODIFIER c.276+1644_276+1645d
others(4): Show 
c.276+1644_276+1645delAA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475347
chr22:26475352 T
T
 C
C
 1 a0001c0001t0002g0263
a0001c0001t0002g0263
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.276+1641A>G
c.276+1641A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475352
chr22:26475353 T
T
 C
C
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.276+1640A>G
c.276+1640A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475353
chr22:26475420 T
T
 A
A
 1 a0003c0004t0007g0105
a0003c0004t0007g0105
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.276+1573A>T
c.276+1573A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475420
chr22:26475422 A
A
 G
G
 1 a0001c0010t0006g0118
a0001c0010t0006g0118
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.276+1571T>C
c.276+1571T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475422
chr22:26475478 G
G
 A
A
 1 a0001c0001t0003g0181
a0001c0001t0003g0181
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.276+1515C>T
c.276+1515C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475478
chr22:26475560 C
C
 T
T
 1 a0003c0003t0072g0085
a0003c0003t0072g0085
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.276+1433G>A
c.276+1433G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475560
chr22:26475686 TAGAG
TAGAG
 T
T
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.276+1303_276+1306d
others(6): Show 
c.276+1303_276+1306delCTCT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475686
chr22:26475740 C
C
 T
T
 9 a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
others(6): Show 
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0015t0011g0069
a0005c0006t0011g0006
a0005c0006t0011g0067
 16 HG02109.hp2
HG02145.hp2
HG02257.hp1
others(13): Show 
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02647.hp2
HG02717.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.276+1253G>A
c.276+1253G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26475740
chr22:26476138 T
T
 A
A
 9 a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
others(6): Show 
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0015t0011g0069
a0005c0006t0011g0006
a0005c0006t0011g0067
 16 HG02109.hp2
HG02145.hp2
HG02257.hp1
others(13): Show 
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02647.hp2
HG02717.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.276+855A>T
c.276+855A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476138
chr22:26476253 A
A
 G
G
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.276+740T>C
c.276+740T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476253
chr22:26476307 A
A
 G
G
 1 a0001c0001t0004g0131
a0001c0001t0004g0131
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.276+686T>C
c.276+686T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476307
chr22:26476313 G
G
 C
C
 1 a0002c0002t0001g0115
a0002c0002t0001g0115
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.276+680C>G
c.276+680C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476313
chr22:26476468 T
T
 A
A
 2 a0006c0011t0022g0030
a0006c0011t0022g0108
a0006c0011t0022g0030
a0006c0011t0022g0108
 3 HG01256.hp1
HG01258.hp2
HG02630.hp1
HG01256.hp1
HG01258.hp2
HG02630.hp1
 intron_variant MODIFIER c.276+525A>T
c.276+525A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476468
chr22:26476644 T
T
 C
C
 1 a0007c0013t0001g0032
a0007c0013t0001g0032
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.276+349A>G
c.276+349A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476644
chr22:26476681 G
G
 A
A
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.276+312C>T
c.276+312C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476681
chr22:26476690 A
A
 T
T
 11 a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
others(8): Show 
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.276+303T>A
c.276+303T>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476690
chr22:26476696 T
T
 C
C
 1 a0002c0002t0006g0271
a0002c0002t0006g0271
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.276+297A>G
c.276+297A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476696
chr22:26476800 T
T
 C
C
 1 a0001c0001t0003g0182
a0001c0001t0003g0182
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.276+193A>G
c.276+193A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476800
chr22:26476888 G
G
 A
A
 4 a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0071g0086
others(1): Show 
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0071g0086
a0003c0003t0072g0085
 4 HG02451.hp2
HG02896.hp2
HG02897.hp1
others(1): Show 
HG02451.hp2
HG02896.hp2
HG02897.hp1
NA19043.hp1
 intron_variant MODIFIER c.276+105C>T
c.276+105C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 4/13 chr22 26476888
chr22:26477148 G
G
 A
A
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.133-12C>T
c.133-12C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477148
chr22:26477241 C
C
 T
T
 1 a0003c0003t0051g0107
a0003c0003t0051g0107
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.133-105G>A
c.133-105G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477241
chr22:26477431 C
C
 A
A
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.133-295G>T
c.133-295G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477431
chr22:26477449 G
G
 A
A
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.133-313C>T
c.133-313C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477449
chr22:26477523 T
T
 C
C
 7 a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
others(4): Show 
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
 8 HG01168.hp2
HG01175.hp1
HG02004.hp2
others(5): Show 
HG01168.hp2
HG01175.hp1
HG02004.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.133-387A>G
c.133-387A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477523
chr22:26477530 T
T
 C
C
 4 a0003c0003t0019g0016
a0003c0003t0037g0091
a0003c0003t0037g0098
others(1): Show 
a0003c0003t0019g0016
a0003c0003t0037g0091
a0003c0003t0037g0098
a0003c0003t0076g0092
 6 HG01358.hp1
HG01934.hp2
HG01975.hp2
others(3): Show 
HG01358.hp1
HG01934.hp2
HG01975.hp2
HG01981.hp1
HG02148.hp2
HG02293.hp1
 intron_variant MODIFIER c.133-394A>G
c.133-394A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477530
chr22:26477629 G
G
 A
A
 2 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0006g0033
a0001c0010t0006g0118
 3 HG02615.hp1
HG02922.hp2
HG02965.hp1
HG02615.hp1
HG02922.hp2
HG02965.hp1
 intron_variant MODIFIER c.133-493C>T
c.133-493C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477629
chr22:26477649 A
A
 G
G
 3 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 intron_variant MODIFIER c.133-513T>C
c.133-513T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477649
chr22:26477835 C
C
 G
G
 3 a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
 4 HG02886.hp1
HG02895.hp1
HG03486.hp1
others(1): Show 
HG02886.hp1
HG02895.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.133-699G>C
c.133-699G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477835
chr22:26477877 T
T
 G
G
 2 a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0129
a0001c0001t0004g0130
 2 HG02258.hp1
NA19240.hp1
HG02258.hp1
NA19240.hp1
 intron_variant MODIFIER c.133-741A>C
c.133-741A>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477877
chr22:26477980 A
A
 G
G
 2 a0002c0002t0006g0196
a0002c0002t0009g0272
a0002c0002t0006g0196
a0002c0002t0009g0272
 2 HG02622.hp2
NA21309.hp1
HG02622.hp2
NA21309.hp1
 intron_variant MODIFIER c.133-844T>C
c.133-844T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26477980
chr22:26478138 C
C
 T
T
 13 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(10): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0081g0281
a0012c0022t0040g0282
 16 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(13): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG02074.hp1
HG04199.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.133-1002G>A
c.133-1002G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478138
chr22:26478231 G
G
 A
A
 1 a0002c0002t0001g0225
a0002c0002t0001g0225
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.132+1034C>T
c.132+1034C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478231
chr22:26478299 G
G
 A
A
 2 a0003c0003t0030g0029
a0003c0003t0051g0107
a0003c0003t0030g0029
a0003c0003t0051g0107
 3 HG01099.hp2
HG01167.hp2
HG03453.hp2
HG01099.hp2
HG01167.hp2
HG03453.hp2
 intron_variant MODIFIER c.132+966C>T
c.132+966C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478299
chr22:26478332 G
G
 T
T
 1 a0002c0002t0001g0199
a0002c0002t0001g0199
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.132+933C>A
c.132+933C>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478332
chr22:26478388 T
T
 C
C
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.132+877A>G
c.132+877A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478388
chr22:26478443 C
C
 T
T
 2 a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0079g0276
a0002c0002t0080g0275
 2 HG01496.hp1
NA18906.hp2
HG01496.hp1
NA18906.hp2
 intron_variant MODIFIER c.132+822G>A
c.132+822G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478443
chr22:26478496 G
G
 A
A
 15 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
others(12): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0013g0045
a0002c0002t0044g0057
a0002c0002t0062g0186
a0007c0013t0001g0032
a0008c0012t0013g0044
a0011c0017t0013g0185
 19 HG00423.hp1
HG00733.hp1
HG01516.hp1
others(16): Show 
HG00423.hp1
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02523.hp1
HG02683.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp2
NA18968.hp1
NA18969.hp2
NA18982.hp1
NA18989.hp2
NA19009.hp2
NA20752.hp1
 intron_variant MODIFIER c.132+769C>T
c.132+769C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478496
chr22:26478556 G
G
 C
C
 4 a0001c0001t0004g0046
a0001c0001t0005g0189
a0001c0001t0057g0187
others(1): Show 
a0001c0001t0004g0046
a0001c0001t0005g0189
a0001c0001t0057g0187
a0001c0001t0058g0188
 5 HG01069.hp2
HG01123.hp2
HG02895.hp2
others(2): Show 
HG01069.hp2
HG01123.hp2
HG02895.hp2
HG02897.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.132+709C>G
c.132+709C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478556
chr22:26478570 C
C
 CA
CA
 201 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(198): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0026g0211
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0062g0186
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0005t0009g0018
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0018t0012g0218
a0002c0021t0001g0242
a0003c0003t0008g0093
a0003c0003t0016g0094
a0003c0003t0016g0096
a0003c0003t0016g0097
a0003c0003t0037g0098
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0003t0075g0095
a0003c0004t0007g0003
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0048g0101
a0003c0004t0050g0102
a0005c0006t0011g0067
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0011c0017t0013g0185
a0013c0023t0002g0264
a0014c0024t0056g0224
 291 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(288): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.132+694dupT
c.132+694dupT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478570
chr22:26478570 C
C
 CAA
CAA
 28 a0001c0001t0002g0194
a0001c0001t0003g0190
a0001c0001t0003g0191
others(25): Show 
a0001c0001t0002g0194
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0265
a0001c0001t0010g0195
a0001c0001t0035g0270
a0001c0010t0009g0119
a0002c0002t0001g0048
a0002c0002t0001g0117
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0006g0116
a0002c0002t0006g0228
a0002c0002t0012g0233
a0002c0002t0024g0226
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0067g0197
a0002c0002t0081g0281
a0002c0019t0024g0232
a0003c0004t0007g0017
a0003c0004t0007g0109
a0003c0004t0052g0106
a0012c0022t0040g0282
 31 HG00597.hp1
HG00673.hp2
HG00735.hp1
others(28): Show 
HG00597.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp1
HG02257.hp2
HG02738.hp1
HG03098.hp1
HG03098.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
NA18950.hp1
NA18967.hp1
NA18972.hp2
NA18975.hp2
NA18985.hp1
NA18988.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19062.hp2
NA19067.hp2
NA19077.hp2
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.132+693_132+694dup
others(2): Show 
c.132+693_132+694dupTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478570
chr22:26478648 T
T
 C
C
 15 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(12): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0012c0022t0040g0282
 18 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(15): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG02074.hp1
HG04199.hp2
NA18906.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.132+617A>G
c.132+617A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478648
chr22:26478695 T
T
 C
C
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.132+570A>G
c.132+570A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478695
chr22:26478765 A
A
 AC
AC
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.132+499dupG
c.132+499dupG
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478765
chr22:26478794 G
G
 A
A
 1 a0006c0011t0022g0030
a0006c0011t0022g0030
 2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.132+471C>T
c.132+471C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26478794
chr22:26479018 A
A
 C
C
 9 a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
others(6): Show 
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0015t0011g0069
a0005c0006t0011g0006
a0005c0006t0011g0067
 16 HG02109.hp2
HG02145.hp2
HG02257.hp1
others(13): Show 
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02647.hp2
HG02717.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.132+247T>G
c.132+247T>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26479018
chr22:26479073 C
C
 T
T
 1 a0001c0001t0005g0124
a0001c0001t0005g0124
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.132+192G>A
c.132+192G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 3/13 chr22 26479073
chr22:26479404 C
C
 T
T
 4 a0001c0001t0004g0120
a0001c0001t0005g0122
a0001c0001t0010g0123
others(1): Show 
a0001c0001t0004g0120
a0001c0001t0005g0122
a0001c0001t0010g0123
a0001c0001t0033g0121
 4 HG00639.hp1
HG01975.hp1
HG02486.hp1
others(1): Show 
HG00639.hp1
HG01975.hp1
HG02486.hp1
HG03490.hp2
 intron_variant MODIFIER c.42-49G>A
c.42-49G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479404
chr22:26479607 G
G
 C
C
 1 a0002c0002t0006g0236
a0002c0002t0006g0236
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.42-252C>G
c.42-252C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479607
chr22:26479687 G
G
 A
A
 1 a0004c0009t0028g0099
a0004c0009t0028g0099
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.42-332C>T
c.42-332C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479687
chr22:26479752 C
C
 T
T
 3 a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
 4 HG02615.hp1
HG02922.hp2
HG02965.hp1
others(1): Show 
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp2
 intron_variant MODIFIER c.42-397G>A
c.42-397G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479752
chr22:26479838 C
C
 T
T
 1 a0003c0004t0007g0100
a0003c0004t0007g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.42-483G>A
c.42-483G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479838
chr22:26479839 G
G
 A
A
 2 a0002c0002t0006g0196
a0002c0002t0009g0272
a0002c0002t0006g0196
a0002c0002t0009g0272
 2 HG02622.hp2
NA21309.hp1
HG02622.hp2
NA21309.hp1
 intron_variant MODIFIER c.42-484C>T
c.42-484C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26479839
chr22:26480179 G
G
 C
C
 2 a0003c0003t0011g0024
a0003c0015t0011g0069
a0003c0003t0011g0024
a0003c0015t0011g0069
 3 HG02257.hp1
HG02717.hp1
HG03516.hp2
HG02257.hp1
HG02717.hp1
HG03516.hp2
 intron_variant MODIFIER c.42-824C>G
c.42-824C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480179
chr22:26480203 T
T
 C
C
 4 a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0049g0068
others(1): Show 
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0049g0068
a0003c0015t0011g0069
 6 HG02257.hp1
HG02647.hp2
HG02717.hp1
others(3): Show 
HG02257.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.42-848A>G
c.42-848A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480203
chr22:26480237 T
T
 C
C
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.42-882A>G
c.42-882A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480237
chr22:26480328 T
T
 G
G
 1 a0002c0002t0067g0197
a0002c0002t0067g0197
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.42-973A>C
c.42-973A>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480328
chr22:26480339 T
T
 A
A
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.42-984A>T
c.42-984A>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480339
chr22:26480430 C
C
 T
T
 5 a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
others(2): Show 
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0053g0061
a0003c0014t0032g0060
 5 HG02486.hp2
HG02723.hp1
HG02818.hp1
others(2): Show 
HG02486.hp2
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.42-1075G>A
c.42-1075G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480430
chr22:26480864 C
C
 T
T
 8 a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
others(5): Show 
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0012g0114
a0007c0013t0001g0032
 10 HG00733.hp1
HG01516.hp1
HG01517.hp1
others(7): Show 
HG00733.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp2
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02683.hp2
HG03688.hp2
NA20752.hp1
 intron_variant MODIFIER c.41+858G>A
c.41+858G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480864
chr22:26480915 C
C
 G
G
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.41+807G>C
c.41+807G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26480915
chr22:26481135 G
G
 GAAAGAAA
others(341): Show 
GAAAGAAAACTTGGGTGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATC
CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA
GACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAA
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG
CTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC
GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0002c0002t0001g0237
a0002c0002t0001g0237
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.41+586_41+587insTT
others(346): Show 
c.41+586_41+587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG
TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG
CCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC
ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA
TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG
GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACA
CACCCAAGTTTTCTTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481135
chr22:26481135 G
G
 GAAAGAAA
others(353): Show 
GAAAGAAAACTTGGGTGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATC
CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA
GACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAA
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG
CTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC
GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAA
 1 a0002c0002t0001g0238
a0002c0002t0001g0238
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.41+586_41+587insTT
others(358): Show 
c.41+586_41+587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT
CCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTA
CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC
GGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT
CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGCCACACACCCAAGTTTTCTTT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481135
chr22:26481136 A
A
 G
G
 1 a0004c0008t0027g0070
a0004c0008t0027g0070
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.41+586T>C
c.41+586T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481136
chr22:26481185 CATAA
CATAA
 C
C
 7 a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
others(4): Show 
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0081g0281
a0012c0022t0040g0282
 8 HG02074.hp1
NA18953.hp1
NA18972.hp2
others(5): Show 
HG02074.hp1
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.41+533_41+536delTT
others(2): Show 
c.41+533_41+536delTTAT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481185
chr22:26481343 C
C
 T
T
 11 a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
others(8): Show 
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
 21 HG00597.hp1
HG00609.hp2
HG02056.hp2
others(18): Show 
HG00597.hp1
HG00609.hp2
HG02056.hp2
HG04184.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18967.hp2
NA18975.hp1
NA18976.hp1
NA18991.hp1
NA19002.hp2
NA19054.hp2
NA19058.hp1
NA19062.hp2
NA19066.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp2
NA19085.hp2
NA19090.hp2
 intron_variant MODIFIER c.41+379G>A
c.41+379G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481343
chr22:26481497 G
G
 A
A
 51 a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
others(48): Show 
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0009g0209
a0002c0002t0012g0009
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0068g0267
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0014c0024t0056g0224
 73 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(70): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp2
HG01175.hp2
HG01515.hp1
HG01516.hp2
HG01934.hp1
HG02015.hp2
HG02071.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02293.hp2
HG02523.hp2
HG02683.hp1
HG02698.hp1
HG03041.hp2
HG03239.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18942.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19067.hp2
NA19076.hp2
NA19077.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.41+225C>T
c.41+225C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481497
chr22:26481573 C
C
 T
T
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.41+149G>A
c.41+149G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481573
chr22:26481643 G
G
 C
C
 1 a0002c0002t0001g0049
a0002c0002t0001g0049
 2 HG00140.hp1
HG02698.hp1
HG00140.hp1
HG02698.hp1
 intron_variant MODIFIER c.41+79C>G
c.41+79C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 2/13 chr22 26481643
chr22:26482317 A
A
 G
G
 2 a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0110
a0001c0001t0005g0111
 2 HG01106.hp1
HG01361.hp1
HG01106.hp1
HG01361.hp1
 intron_variant MODIFIER c.-478-77T>C
c.-478-77T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482317
chr22:26482372 G
G
 A
A
 1 a0003c0004t0007g0109
a0003c0004t0007g0109
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.-478-132C>T
c.-478-132C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482372
chr22:26482528 AACCCAAA
others(47): Show 
AACCCAAATTAAGGAACTGTCATCTTGACAGTCCAAAAGTAACCTGAACA
TGCAG
 A
A
 1 a0003c0003t0029g0059
a0003c0003t0029g0059
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.-478-342_-478-289d
others(56): Show 
c.-478-342_-478-289delCTGCATGTTCAGGTTACTTTTGGACTGT
CAAGATGACAGTTCCTTAATTTGGGT
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482528
chr22:26482847 C
C
 A
A
 1 a0003c0003t0029g0059
a0003c0003t0029g0059
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.-478-607G>T
c.-478-607G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482847
chr22:26482901 A
A
 ATTGTTTC
others(45): Show 
ATTGTTTCCTTTGCTTTTTTTTTTTTTTTCTTTTTATTTTTTTTTATTTA
CTT
 1 a0003c0003t0029g0059
a0003c0003t0029g0059
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.-478-662_-478-661i
others(54): Show 
c.-478-662_-478-661insAAGTAAATAAAAAAAAATAAAAAGAAAA
AAAAAAAAAAAGCAAAGGAAACAA
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482901
chr22:26482904 C
C
 T
T
 1 a0003c0003t0029g0059
a0003c0003t0029g0059
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.-478-664G>A
c.-478-664G>A
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482904
chr22:26482940 T
T
 C
C
 1 a0002c0021t0001g0242
a0002c0021t0001g0242
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.-478-700A>G
c.-478-700A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482940
chr22:26482991 G
G
 A
A
 2 a0002c0002t0014g0054
a0002c0002t0014g0286
a0002c0002t0014g0054
a0002c0002t0014g0286
 3 HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
 intron_variant MODIFIER c.-479+683C>T
c.-479+683C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26482991
chr22:26483001 T
T
 C
C
 217 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(214): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-479+673A>G
c.-479+673A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483001
chr22:26483125 G
G
 A
A
 33 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0243
others(30): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0058
a0001c0001t0004g0015
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0050
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0244
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0013c0023t0002g0264
 59 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(56): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01255.hp2
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG02015.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02735.hp1
HG02738.hp2
HG03017.hp1
HG03490.hp1
HG03492.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04115.hp1
NA18612.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp2
NA18974.hp1
NA18975.hp2
NA18988.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19004.hp2
NA19007.hp1
NA19054.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19076.hp1
NA19080.hp1
NA19082.hp1
NA19091.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.-479+549C>T
c.-479+549C>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483125
chr22:26483331 G
G
 C
C
 234 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(231): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0030g0029
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0051g0107
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-479+343C>G
c.-479+343C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483331
chr22:26483410 C
C
 G
G
 287 a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
others(284): Show 
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0148
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0002g0194
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0003g0005
a0001c0001t0003g0014
a0001c0001t0003g0021
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0058
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0172
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0193
a0001c0001t0004g0004
a0001c0001t0004g0015
a0001c0001t0004g0035
a0001c0001t0004g0046
a0001c0001t0004g0120
a0001c0001t0004g0128
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0131
a0001c0001t0004g0136
a0001c0001t0004g0146
a0001c0001t0004g0156
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0175
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0004g0265
a0001c0001t0005g0008
a0001c0001t0005g0050
a0001c0001t0005g0110
a0001c0001t0005g0111
a0001c0001t0005g0122
a0001c0001t0005g0124
a0001c0001t0005g0127
a0001c0001t0005g0141
a0001c0001t0005g0143
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0150
a0001c0001t0005g0169
a0001c0001t0005g0189
a0001c0001t0005g0248
a0001c0001t0010g0010
a0001c0001t0010g0037
a0001c0001t0010g0123
a0001c0001t0010g0137
a0001c0001t0010g0178
a0001c0001t0010g0195
a0001c0001t0010g0244
a0001c0001t0015g0040
a0001c0001t0015g0152
a0001c0001t0015g0162
a0001c0001t0015g0170
a0001c0001t0015g0177
a0001c0001t0023g0245
a0001c0001t0023g0259
a0001c0001t0023g0260
a0001c0001t0025g0051
a0001c0001t0025g0163
a0001c0001t0033g0121
a0001c0001t0033g0149
a0001c0001t0035g0262
a0001c0001t0035g0270
a0001c0001t0036g0155
a0001c0001t0036g0173
a0001c0001t0041g0287
a0001c0001t0041g0288
a0001c0001t0055g0160
a0001c0001t0057g0187
a0001c0001t0058g0188
a0001c0001t0061g0250
a0001c0001t0063g0251
a0001c0001t0064g0252
a0001c0001t0065g0253
a0001c0001t0066g0254
a0001c0001t0078g0241
a0001c0007t0004g0036
a0001c0007t0004g0043
a0001c0007t0004g0147
a0001c0010t0006g0033
a0001c0010t0006g0118
a0001c0010t0009g0119
a0002c0002t0001g0001
a0002c0002t0001g0013
a0002c0002t0001g0020
a0002c0002t0001g0048
a0002c0002t0001g0049
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0183
a0002c0002t0001g0199
a0002c0002t0001g0200
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0212
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0216
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0001g0223
a0002c0002t0001g0225
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0006g0031
a0002c0002t0006g0112
a0002c0002t0006g0116
a0002c0002t0006g0153
a0002c0002t0006g0165
a0002c0002t0006g0196
a0002c0002t0006g0202
a0002c0002t0006g0207
a0002c0002t0006g0217
a0002c0002t0006g0219
a0002c0002t0006g0228
a0002c0002t0006g0236
a0002c0002t0006g0271
a0002c0002t0009g0138
a0002c0002t0009g0139
a0002c0002t0009g0140
a0002c0002t0009g0209
a0002c0002t0009g0272
a0002c0002t0012g0009
a0002c0002t0012g0114
a0002c0002t0012g0184
a0002c0002t0012g0204
a0002c0002t0012g0220
a0002c0002t0012g0233
a0002c0002t0013g0045
a0002c0002t0013g0201
a0002c0002t0013g0215
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0018g0019
a0002c0002t0018g0135
a0002c0002t0024g0206
a0002c0002t0024g0226
a0002c0002t0026g0211
a0002c0002t0026g0229
a0002c0002t0026g0230
a0002c0002t0034g0047
a0002c0002t0040g0284
a0002c0002t0042g0055
a0002c0002t0043g0056
a0002c0002t0044g0057
a0002c0002t0059g0231
a0002c0002t0060g0227
a0002c0002t0062g0186
a0002c0002t0067g0197
a0002c0002t0068g0267
a0002c0002t0077g0240
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0002c0005t0006g0126
a0002c0005t0009g0018
a0002c0005t0009g0034
a0002c0005t0009g0132
a0002c0005t0009g0133
a0002c0005t0009g0134
a0002c0005t0054g0125
a0002c0018t0012g0218
a0002c0019t0024g0232
a0002c0021t0001g0242
a0003c0003t0008g0007
a0003c0003t0008g0012
a0003c0003t0008g0072
a0003c0003t0008g0077
a0003c0003t0008g0081
a0003c0003t0008g0083
a0003c0003t0008g0093
a0003c0003t0011g0023
a0003c0003t0011g0024
a0003c0003t0016g0025
a0003c0003t0016g0082
a0003c0003t0016g0094
a0003c0003t0016g0096
a0003c0003t0016g0097
a0003c0003t0019g0016
a0003c0003t0019g0076
a0003c0003t0020g0026
a0003c0003t0020g0071
a0003c0003t0020g0084
a0003c0003t0021g0022
a0003c0003t0021g0066
a0003c0003t0029g0059
a0003c0003t0029g0074
a0003c0003t0029g0079
a0003c0003t0030g0029
a0003c0003t0031g0063
a0003c0003t0031g0064
a0003c0003t0032g0062
a0003c0003t0037g0091
a0003c0003t0037g0098
a0003c0003t0038g0075
a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0047g0065
a0003c0003t0049g0068
a0003c0003t0051g0107
a0003c0003t0053g0061
a0003c0003t0069g0078
a0003c0003t0071g0086
a0003c0003t0072g0085
a0003c0003t0073g0073
a0003c0003t0075g0095
a0003c0003t0076g0092
a0003c0004t0007g0003
a0003c0004t0007g0017
a0003c0004t0007g0028
a0003c0004t0007g0100
a0003c0004t0007g0103
a0003c0004t0007g0104
a0003c0004t0007g0105
a0003c0004t0007g0109
a0003c0004t0048g0101
a0003c0004t0050g0102
a0003c0004t0052g0106
a0003c0014t0032g0060
a0003c0015t0011g0069
a0003c0016t0038g0080
a0004c0008t0027g0027
a0004c0008t0027g0070
a0004c0008t0074g0087
a0004c0009t0028g0088
a0004c0009t0028g0089
a0004c0009t0028g0099
a0004c0009t0070g0090
a0005c0006t0011g0006
a0005c0006t0011g0067
a0006c0011t0022g0030
a0006c0011t0022g0108
a0007c0013t0001g0032
a0008c0012t0013g0044
a0009c0020t0002g0154
a0010c0025t0006g0239
a0011c0017t0013g0185
a0012c0022t0040g0282
a0013c0023t0002g0264
a0014c0024t0056g0224
 403 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(400): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.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
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.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
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18976.hp1
NA18976.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-479+264G>C
c.-479+264G>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483410
chr22:26483453 C
C
 A
A
 1 a0002c0002t0068g0267
a0002c0002t0068g0267
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.-479+221G>T
c.-479+221G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483453
chr22:26483518 A
A
 G
G
 1 a0001c0001t0003g0058
a0001c0001t0003g0058
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.-479+156T>C
c.-479+156T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483518
chr22:26483529 C
C
 A
A
 2 a0003c0003t0039g0268
a0003c0003t0039g0269
a0003c0003t0039g0268
a0003c0003t0039g0269
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.-479+145G>T
c.-479+145G>T
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483529
chr22:26483534 G
G
 C
C
 13 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(10): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0081g0281
a0012c0022t0040g0282
 16 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(13): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG02074.hp1
HG04199.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.-479+140C>G
c.-479+140C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483534
chr22:26483535 G
G
 C
C
 1 a0001c0001t0035g0270
a0001c0001t0035g0270
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.-479+139C>G
c.-479+139C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483535
chr22:26483565 G
G
 C
C
 1 a0002c0002t0006g0271
a0002c0002t0006g0271
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-479+109C>G
c.-479+109C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483565
chr22:26483576 T
T
 C
C
 1 a0002c0002t0009g0272
a0002c0002t0009g0272
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-479+98A>G
c.-479+98A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483576
chr22:26483596 A
A
 G
G
 15 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(12): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0012c0022t0040g0282
 18 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(15): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG02074.hp1
HG04199.hp2
NA18906.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.-479+78T>C
c.-479+78T>C
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483596
chr22:26483597 T
T
 C
C
 15 a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
others(12): Show 
a0002c0002t0014g0053
a0002c0002t0014g0054
a0002c0002t0014g0283
a0002c0002t0014g0285
a0002c0002t0014g0286
a0002c0002t0017g0052
a0002c0002t0017g0277
a0002c0002t0017g0278
a0002c0002t0017g0279
a0002c0002t0017g0280
a0002c0002t0040g0284
a0002c0002t0079g0276
a0002c0002t0080g0275
a0002c0002t0081g0281
a0012c0022t0040g0282
 18 HG00140.hp2
HG00738.hp1
HG01070.hp2
others(15): Show 
HG00140.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp1
HG02074.hp1
HG04199.hp2
NA18906.hp2
NA18953.hp1
NA18972.hp2
NA18985.hp2
NA18999.hp2
NA19003.hp2
NA19066.hp1
NA19085.hp1
 intron_variant MODIFIER c.-479+77A>G
c.-479+77A>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483597
chr22:26483628 G
G
 C
C
 2 a0003c0003t0045g0274
a0003c0003t0046g0273
a0003c0003t0045g0274
a0003c0003t0046g0273
 2 HG00741.hp1
NA20752.hp2
HG00741.hp1
NA20752.hp2
 intron_variant MODIFIER c.-479+46C>G
c.-479+46C>G
HPS4 ENSG00000100099.22 transcript ENST00000398145.7 protein_coding 1/13 chr22 26483628

  • 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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