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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SOX30_chr5_157620679_157657438  SOX30_chr5_157620679_157657438 (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 11063
ensemblid ENSG00000039600.11
hgncid 30635
symbol SOX30
name SRY-box transcription factor 30
refseq_nuc NM_178424.2
refseq_prot NP_848511.1
ensembl_nuc ENST00000265007.11
ensembl_prot ENSP00000265007.6
mane_status MANE Select
chr chr5
start 157625679
end 157652438
strand -
ver v1.2
region chr5:157625679-157652438
region5000 chr5:157620679-157657438
regionname0 SOX30_chr5_157625679_157652438
regionname5000 SOX30_chr5_157620679_157657438

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 753 330 72 56 159 14 27 125 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0002 0/0 753 30 0 3 23 0 4 15 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0003 0/0 753 9 9 0 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0004 0/0 753 5 3 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0005 0/0 753 4 0 1 0 0 3 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0006 0/0 753 3 3 0 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0007 0/0 753 3 0 0 3 0 0 3 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0008 0/0 753 2 0 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0009 0/0 753 1 1 0 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0010 0/0 753 1 0 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0011 0/0 753 1 0 0 1 0 0 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0012 0/0 753 1 0 0 1 0 0 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0013 0/0 753 1 1 0 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0014 0/0 753 1 1 0 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0015 0/0 753 1 0 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0016 0/0 753 1 0 0 1 0 0 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2262 221 46 42 109 6 16 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0002 0/0 2262 53 17 9 23 3 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0003 0/0 2262 39 0 3 23 5 8 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0004 0/0 2262 30 0 3 23 0 4 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0005 0/0 2262 9 9 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0006 0/0 2262 7 6 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0007 0/0 2262 5 3 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0008 0/0 2262 4 0 1 0 0 3 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0009 0/0 2262 3 3 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0010 0/0 2262 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0011 0/0 2262 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0012 0/0 2262 2 0 0 0 0 2 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0013 0/0 2262 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0014 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0015 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0016 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0017 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0018 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0019 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0020 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0021 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0022 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0023 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0024 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0025 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0026 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
c0027 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1022 317 39 52 181 12 31 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0002 0/0 1022 27 14 9 0 2 2 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0003 0/0 1022 18 18 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0004 0/0 1021 7 4 3 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0005 0/0 1022 6 5 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0006 0/0 1022 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0007 0/0 1022 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0008 0/0 1022 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0009 0/0 1022 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0010 0/0 1022 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0011 0/0 1022 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0012 0/0 1022 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0013 0/0 1021 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0014 0/0 1022 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0015 0/0 1022 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0016 0/0 1022 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
t0017 0/0 1022 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 17 0 2 11 3 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0002 0/1 14 1 3 7 0 2 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0003 0/0 9 0 4 4 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0004 1/0 6 0 4 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0005 0/0 6 6 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0006 0/0 5 0 0 5 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0007 0/0 5 0 0 5 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0008 0/0 5 0 0 5 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0009 0/0 5 0 1 3 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0010 0/0 5 4 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0011 0/0 4 0 3 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0012 0/0 4 1 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0013 0/0 4 0 0 4 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0014 0/0 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0015 0/0 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0016 0/0 3 0 3 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0017 0/0 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0018 0/0 3 0 2 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0019 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0020 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0021 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0022 0/0 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0023 0/0 2 1 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0024 0/0 2 0 0 0 1 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0025 0/0 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0026 0/0 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0027 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0028 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0029 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0030 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0031 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0032 0/0 2 1 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0033 0/0 2 0 1 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0034 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0035 0/0 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0036 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0037 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0038 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0039 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0040 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0041 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0042 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0043 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0044 0/0 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0045 0/0 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0046 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0047 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0048 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0049 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0050 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0051 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0052 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0053 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0054 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0055 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0056 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0057 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0058 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0059 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0060 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0061 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0062 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0063 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0064 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0065 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0066 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0067 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0068 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0069 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0070 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0071 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0072 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0073 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0074 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0075 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0076 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0077 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0078 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0079 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0080 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0081 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0082 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0083 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0084 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0085 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0086 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0087 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0088 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0089 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0090 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0091 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0092 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0093 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0094 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0095 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0096 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0097 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0098 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0099 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0100 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0101 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0102 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0103 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0104 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0105 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0106 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0107 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0108 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0109 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0110 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0111 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0112 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0113 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0114 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0115 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0116 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0117 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0118 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0119 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0120 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0121 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0122 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0123 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0124 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0125 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0126 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0127 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0128 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0129 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0130 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0131 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0132 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0133 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0134 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0135 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0136 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0137 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0138 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0139 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0140 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0141 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0142 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0143 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0144 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0145 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0146 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0147 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0148 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0149 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0150 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0151 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0152 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0153 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0154 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0155 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0156 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0157 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0158 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0159 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0160 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0161 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0162 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0163 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0164 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0165 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0166 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0167 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0168 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0169 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0170 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0171 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0172 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0173 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0174 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0175 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0176 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0177 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0178 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0179 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0180 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0181 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0182 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0183 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0184 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0185 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0186 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0187 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0188 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0189 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0190 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0191 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0192 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0193 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0194 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0195 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0196 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0197 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0198 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0199 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0200 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0201 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0202 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0203 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0204 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0205 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0206 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0207 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0208 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0209 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0210 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0211 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0212 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0213 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0214 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0215 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0216 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0217 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0218 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0219 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0220 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0221 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0222 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0223 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0224 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0225 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0226 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0227 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0228 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0229 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0230 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0231 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0232 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0233 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0234 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0235 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0236 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0237 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0238 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0239 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0240 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0241 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0242 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0243 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0244 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0245 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0246 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0247 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0248 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0249 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0250 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0251 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0252 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0253 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0254 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0255 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0256 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0257 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0258 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0259 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0260 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0261 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0262 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0263 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0264 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0265 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0266 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0267 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0268 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0269 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0270 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0271 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0272 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0273 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0274 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0275 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0276 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0277 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0278 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0279 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0280 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
g0281 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2262 221 46 42 109 6 16 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0002 0/0 2262 53 17 9 23 3 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0003 0/0 2262 39 0 3 23 5 8 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0006 0/0 2262 7 6 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0011 0/0 2262 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0012 0/0 2262 2 0 0 0 0 2 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0015 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0016 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0021 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0024 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0025 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0026 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0002c0004 0/0 2262 30 0 3 23 0 4 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0003c0005 0/0 2262 9 9 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0004c0007 0/0 2262 5 3 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0005c0008 0/0 2262 4 0 1 0 0 3 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0006c0009 0/0 2262 3 3 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0007c0010 0/0 2262 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0008c0013 0/0 2262 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0009c0027 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0010c0019 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0011c0018 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0012c0023 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0013c0022 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0014c0020 0/0 2262 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0015c0017 0/0 2262 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0016c0014 0/0 2262 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 3283 162 10 31 102 4 13 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0002 0/0 3283 27 14 9 0 2 2 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0003 0/0 3283 9 9 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0004 0/0 3282 4 3 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0005 0/0 3283 6 5 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0006 0/0 3283 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0007 0/0 3283 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0008 0/0 3283 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0010 0/0 3283 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0012 0/0 3283 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0013 0/0 3282 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0001t0015 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0002t0001 0/0 3283 52 17 8 23 3 1 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0002t0016 0/0 3283 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0003t0001 0/0 3283 39 0 3 23 5 8 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0006t0001 0/0 3283 7 6 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0011t0001 0/0 3283 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0012t0001 0/0 3283 2 0 0 0 0 2 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0015t0001 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0016t0001 0/0 3283 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0021t0001 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0024t0017 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0025t0001 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0001c0026t0001 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0002c0004t0001 0/0 3283 30 0 3 23 0 4 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0003c0005t0003 0/0 3283 9 9 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0004c0007t0001 0/0 3283 5 3 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0005c0008t0001 0/0 3283 4 0 1 0 0 3 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0006c0009t0009 0/0 3283 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0006c0009t0011 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0007c0010t0001 0/0 3283 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0008c0013t0004 0/0 3282 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0009c0027t0004 0/0 3282 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0010c0019t0001 0/0 3283 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0011c0018t0001 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0012c0023t0001 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0013c0022t0001 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0014c0020t0014 0/0 3283 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0015c0017t0001 0/0 3283 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438
a0016c0014t0001 0/0 3283 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 copy fasta chr5 157620679 157657438

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/1 14 1 3 7 0 2 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0003 0/0 9 0 4 4 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0004 1/0 6 0 4 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0006 0/0 5 0 0 5 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0007 0/0 5 0 0 5 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0012 0/0 4 1 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0013 0/0 4 0 0 4 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0015 0/0 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0016 0/0 3 0 3 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0017 0/0 3 0 0 3 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0028 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0030 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0031 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0032 0/0 2 1 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0033 0/0 2 0 1 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0034 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0036 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0037 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0038 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0039 0/0 2 0 0 2 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0118 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0120 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0121 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0160 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0164 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0168 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0171 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0173 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0174 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0175 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0176 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0177 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0179 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0180 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0181 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0186 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0187 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0188 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0189 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0190 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0191 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0193 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0194 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0196 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0198 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0199 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0207 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0208 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0209 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0210 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0211 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0212 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0213 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0214 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0215 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0216 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0217 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0218 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0219 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0220 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0221 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0222 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0223 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0224 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0225 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0226 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0227 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0228 0/0 1 0 0 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0229 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0230 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0231 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0232 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0233 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0235 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0236 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0237 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0238 0/0 1 0 0 0 1 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0241 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0242 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0244 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0265 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0001g0266 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0002g0011 0/0 4 0 3 0 0 1 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0002g0025 0/0 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0002g0026 0/0 2 2 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0001c0001t0002g0122 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
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a0008c0013t0004g0044 0/0 2 0 2 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0009c0027t0004g0270 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0010c0019t0001g0254 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0011c0018t0001g0249 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0012c0023t0001g0234 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0013c0022t0001g0258 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0014c0020t0014g0134 0/0 1 1 0 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0015c0017t0001g0116 0/0 1 0 1 0 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
a0016c0014t0001g0064 0/0 1 0 0 1 0 0 SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0002 g0138 EUR GBR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00099 hp2 a0001 c0001 t0001 g0238 EUR GBR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00140 hp1 a0001 c0003 t0001 g0149 EUR GBR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00140 hp2 a0001 c0002 t0001 g0024 EUR GBR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00280 hp1 a0001 c0001 t0001 g0180 EUR FIN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00280 hp2 a0001 c0002 t0001 g0088 EUR FIN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00323 hp1 a0001 c0001 t0002 g0137 EUR FIN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00323 hp2 a0001 c0003 t0001 g0148 EUR FIN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00408 hp1 a0002 c0004 t0001 g0245 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00408 hp2 a0001 c0003 t0001 g0264 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00423 hp1 a0001 c0001 t0001 g0006 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00423 hp2 a0001 c0001 t0001 g0182 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00544 hp1 a0001 c0001 t0006 g0046 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00544 hp2 a0002 c0004 t0001 g0018 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00558 hp1 a0001 c0001 t0001 g0017 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00558 hp2 a0001 c0002 t0001 g0074 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00597 hp1 a0001 c0021 t0001 g0192 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00597 hp2 a0002 c0004 t0001 g0008 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00609 hp1 a0002 c0004 t0001 g0256 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00609 hp2 a0001 c0001 t0001 g0007 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00621 hp1 a0001 c0002 t0001 g0083 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00621 hp2 a0001 c0003 t0001 g0001 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00639 hp1 a0001 c0002 t0001 g0089 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00639 hp2 a0001 c0001 t0002 g0011 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00673 hp1 a0001 c0001 t0001 g0185 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00673 hp2 a0001 c0003 t0001 g0001 EAS CHS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00735 hp1 a0001 c0001 t0002 g0011 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00735 hp2 a0001 c0001 t0001 g0003 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00738 hp1 a0001 c0002 t0001 g0097 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00738 hp2 a0001 c0001 t0001 g0016 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00741 hp1 a0001 c0002 t0001 g0105 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG00741 hp2 a0001 c0001 t0001 g0225 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01069 hp1 a0001 c0001 t0001 g0003 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01069 hp2 a0008 c0013 t0004 g0044 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01070 hp1 a0001 c0001 t0001 g0016 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01070 hp2 a0001 c0001 t0002 g0025 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01071 hp1 a0001 c0001 t0001 g0016 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01071 hp2 a0008 c0013 t0004 g0044 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01074 hp1 a0001 c0001 t0001 g0004 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01074 hp2 a0001 c0002 t0001 g0090 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01081 hp1 a0001 c0001 t0002 g0140 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01081 hp2 a0001 c0001 t0001 g0209 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01099 hp1 a0001 c0001 t0001 g0003 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01099 hp2 a0001 c0001 t0002 g0135 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01106 hp1 a0001 c0002 t0001 g0101 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01106 hp2 a0001 c0001 t0001 g0002 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01109 hp1 a0001 c0001 t0001 g0004 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01109 hp2 a0001 c0001 t0004 g0261 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01167 hp1 a0001 c0001 t0001 g0196 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01167 hp2 a0001 c0001 t0002 g0025 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01168 hp1 a0001 c0001 t0001 g0190 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01168 hp2 a0001 c0003 t0001 g0159 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01169 hp1 a0001 c0001 t0002 g0122 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01169 hp2 a0001 c0001 t0001 g0004 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01175 hp1 a0001 c0002 t0001 g0100 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01175 hp2 a0005 c0008 t0001 g0053 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01192 hp1 a0001 c0003 t0001 g0001 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01192 hp2 a0015 c0017 t0001 g0116 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01243 hp1 a0001 c0001 t0005 g0010 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01243 hp2 a0001 c0006 t0001 g0063 AMR PUR SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01255 hp1 a0001 c0001 t0001 g0178 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01255 hp2 a0001 c0002 t0001 g0098 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01256 hp1 a0001 c0002 t0016 g0095 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01256 hp2 a0001 c0001 t0002 g0139 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01257 hp1 a0001 c0003 t0001 g0001 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01257 hp2 a0001 c0001 t0001 g0198 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01258 hp1 a0001 c0001 t0002 g0011 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01258 hp2 a0001 c0001 t0001 g0033 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01361 hp1 a0001 c0001 t0001 g0003 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01361 hp2 a0001 c0001 t0001 g0181 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01433 hp1 a0001 c0001 t0001 g0220 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01433 hp2 a0001 c0001 t0001 g0177 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01496 hp1 a0001 c0001 t0001 g0187 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01496 hp2 a0001 c0001 t0001 g0207 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01515 hp1 a0001 c0003 t0001 g0001 EUR IBS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01515 hp2 a0001 c0001 t0001 g0176 EUR IBS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01517 hp1 a0001 c0001 t0001 g0004 EUR IBS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01517 hp2 a0001 c0003 t0001 g0001 EUR IBS SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01884 hp1 a0001 c0001 t0001 g0266 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01884 hp2 a0001 c0002 t0001 g0069 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01891 hp1 a0001 c0001 t0002 g0026 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01891 hp2 a0001 c0002 t0001 g0071 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01934 hp1 a0001 c0002 t0001 g0023 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01934 hp2 a0001 c0001 t0001 g0168 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01943 hp1 a0001 c0001 t0001 g0210 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01943 hp2 a0004 c0007 t0001 g0113 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01952 hp1 a0001 c0001 t0001 g0188 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01952 hp2 a0010 c0019 t0001 g0254 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01975 hp1 a0002 c0004 t0001 g0018 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01975 hp2 a0001 c0001 t0001 g0186 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01981 hp1 a0004 c0007 t0001 g0114 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01981 hp2 a0001 c0001 t0001 g0216 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01993 hp1 a0001 c0001 t0001 g0004 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01993 hp2 a0002 c0004 t0001 g0018 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02015 hp1 a0001 c0001 t0001 g0218 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02015 hp2 a0001 c0002 t0001 g0093 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02027 hp1 a0001 c0001 t0001 g0223 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02027 hp2 a0001 c0003 t0001 g0027 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02055 hp1 a0001 c0001 t0001 g0118 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02055 hp2 a0003 c0005 t0003 g0277 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02056 hp1 a0001 c0001 t0001 g0230 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02056 hp2 a0002 c0004 t0001 g0042 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02071 hp1 a0001 c0001 t0001 g0013 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02071 hp2 a0001 c0001 t0001 g0201 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02074 hp1 a0001 c0001 t0001 g0006 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02074 hp2 a0001 c0001 t0001 g0215 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02080 hp1 a0001 c0001 t0001 g0039 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02080 hp2 a0001 c0001 t0001 g0017 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02083 hp1 a0002 c0004 t0001 g0042 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02083 hp2 a0001 c0001 t0001 g0028 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02129 hp1 a0001 c0001 t0001 g0002 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02129 hp2 a0002 c0004 t0001 g0009 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02135 hp1 a0001 c0002 t0001 g0014 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02135 hp2 a0001 c0001 t0001 g0013 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02145 hp1 a0001 c0001 t0002 g0132 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02145 hp2 a0001 c0026 t0001 g0269 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02148 hp1 a0002 c0004 t0001 g0009 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02148 hp2 a0001 c0001 t0001 g0002 AMR PEL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02155 hp1 a0001 c0001 t0001 g0002 EAS CDX SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02155 hp2 a0001 c0003 t0001 g0150 EAS CDX SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02257 hp1 a0001 c0002 t0001 g0106 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02257 hp2 a0001 c0001 t0002 g0125 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02258 hp1 a0001 c0001 t0001 g0121 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02258 hp2 a0001 c0002 t0001 g0068 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02280 hp1 a0001 c0001 t0003 g0272 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02280 hp2 a0001 c0001 t0001 g0244 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02451 hp1 a0006 c0009 t0009 g0035 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02451 hp2 a0001 c0006 t0001 g0062 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02523 hp1 a0001 c0001 t0001 g0017 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02523 hp2 a0001 c0001 t0007 g0050 EAS KHV SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02572 hp1 a0006 c0009 t0011 g0049 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02572 hp2 a0001 c0001 t0002 g0127 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02622 hp1 a0001 c0001 t0003 g0273 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02622 hp2 a0001 c0001 t0002 g0124 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02630 hp1 a0001 c0006 t0001 g0060 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02630 hp2 a0001 c0001 t0003 g0271 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02698 hp1 a0001 c0003 t0001 g0153 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02698 hp2 a0005 c0008 t0001 g0054 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02717 hp1 a0003 c0005 t0003 g0005 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02717 hp2 a0001 c0002 t0001 g0102 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02723 hp1 a0001 c0002 t0001 g0092 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02723 hp2 a0009 c0027 t0004 g0270 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02738 hp1 a0005 c0008 t0001 g0056 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02738 hp2 a0001 c0001 t0001 g0175 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02809 hp1 a0001 c0001 t0001 g0002 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02809 hp2 a0001 c0002 t0001 g0096 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02818 hp1 a0001 c0024 t0017 g0281 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02818 hp2 a0003 c0005 t0003 g0005 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02895 hp1 a0001 c0001 t0005 g0010 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02895 hp2 a0001 c0006 t0001 g0057 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02896 hp1 a0001 c0001 t0010 g0204 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02896 hp2 a0001 c0001 t0002 g0128 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02897 hp1 a0001 c0001 t0010 g0195 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02897 hp2 a0001 c0001 t0005 g0010 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02922 hp1 a0001 c0001 t0005 g0010 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02922 hp2 a0001 c0001 t0002 g0130 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02965 hp1 a0003 c0005 t0003 g0005 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02965 hp2 a0001 c0002 t0001 g0107 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02970 hp1 a0014 c0020 t0014 g0134 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02970 hp2 a0001 c0001 t0013 g0052 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02976 hp1 a0001 c0002 t0001 g0108 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02976 hp2 a0003 c0005 t0003 g0275 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03017 hp1 a0001 c0001 t0001 g0002 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03017 hp2 a0001 c0001 t0002 g0011 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03041 hp1 a0003 c0005 t0003 g0005 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03041 hp2 a0001 c0002 t0001 g0022 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03098 hp1 a0001 c0002 t0001 g0070 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03098 hp2 a0001 c0001 t0001 g0173 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03130 hp1 a0003 c0005 t0003 g0005 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03130 hp2 a0001 c0006 t0001 g0058 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03139 hp1 a0001 c0001 t0004 g0260 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03139 hp2 a0001 c0001 t0003 g0279 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03195 hp1 a0001 c0001 t0008 g0047 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03195 hp2 a0001 c0001 t0003 g0045 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03209 hp1 a0003 c0005 t0003 g0005 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03209 hp2 a0001 c0015 t0001 g0099 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03225 hp1 a0001 c0001 t0003 g0280 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03225 hp2 a0004 c0007 t0001 g0115 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03239 hp1 a0002 c0004 t0001 g0009 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03239 hp2 a0001 c0012 t0001 g0240 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03453 hp1 a0001 c0001 t0001 g0265 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03453 hp2 a0001 c0001 t0002 g0131 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03486 hp1 a0001 c0006 t0001 g0059 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03486 hp2 a0006 c0009 t0009 g0035 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03490 hp1 a0001 c0003 t0001 g0143 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03490 hp2 a0001 c0012 t0001 g0239 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03491 hp1 a0001 c0001 t0001 g0164 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03491 hp2 a0001 c0003 t0001 g0145 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03492 hp1 a0001 c0003 t0001 g0142 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03492 hp2 a0001 c0003 t0001 g0144 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03516 hp1 a0001 c0002 t0001 g0103 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03516 hp2 a0001 c0001 t0005 g0259 AFR ESN SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03540 hp1 a0001 c0001 t0002 g0126 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03540 hp2 a0001 c0001 t0001 g0120 AFR GWD SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03579 hp1 a0001 c0001 t0002 g0133 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03579 hp2 a0001 c0002 t0001 g0022 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03654 hp1 a0001 c0001 t0001 g0033 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03654 hp2 a0002 c0004 t0001 g0251 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03704 hp1 a0001 c0003 t0001 g0001 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03704 hp2 a0001 c0001 t0001 g0208 SAS PJL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03927 hp1 a0001 c0001 t0001 g0160 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03927 hp2 a0001 c0003 t0001 g0156 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03942 hp1 a0001 c0001 t0001 g0174 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03942 hp2 a0001 c0001 t0012 g0051 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04115 hp1 a0002 c0004 t0001 g0247 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04115 hp2 a0005 c0008 t0001 g0055 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04184 hp1 a0001 c0001 t0001 g0189 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04184 hp2 a0001 c0001 t0001 g0179 SAS BEB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04199 hp1 a0001 c0001 t0001 g0193 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04199 hp2 a0001 c0003 t0001 g0146 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04204 hp1 a0001 c0001 t0001 g0228 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04204 hp2 a0002 c0004 t0001 g0250 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04228 hp1 a0001 c0001 t0002 g0136 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG04228 hp2 a0001 c0001 t0001 g0003 SAS STU SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18612 hp1 a0001 c0001 t0001 g0006 EAS CHB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18612 hp2 a0001 c0001 t0001 g0214 EAS CHB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18747 hp1 a0002 c0004 t0001 g0008 EAS CHB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18747 hp2 a0001 c0001 t0006 g0019 EAS CHB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18906 hp1 a0001 c0001 t0002 g0123 AFR YRI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18906 hp2 a0001 c0006 t0001 g0061 AFR YRI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18939 hp1 a0001 c0001 t0007 g0020 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18939 hp2 a0002 c0004 t0001 g0041 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18940 hp1 a0001 c0001 t0001 g0170 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18940 hp2 a0001 c0001 t0001 g0236 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18942 hp1 a0001 c0001 t0001 g0015 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18942 hp2 a0001 c0001 t0001 g0217 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18943 hp1 a0001 c0001 t0006 g0019 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18943 hp2 a0001 c0001 t0001 g0029 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18944 hp1 a0001 c0001 t0001 g0219 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18944 hp2 a0001 c0001 t0001 g0015 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18945 hp1 a0002 c0004 t0001 g0009 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18945 hp2 a0001 c0001 t0001 g0003 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18946 hp1 a0001 c0001 t0001 g0197 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18946 hp2 a0007 c0010 t0001 g0043 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18948 hp1 a0002 c0004 t0001 g0257 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18948 hp2 a0001 c0001 t0001 g0167 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18949 hp1 a0001 c0001 t0001 g0002 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18949 hp2 a0001 c0025 t0001 g0268 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18950 hp1 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18950 hp2 a0012 c0023 t0001 g0234 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18951 hp1 a0001 c0001 t0001 g0162 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18951 hp2 a0001 c0001 t0001 g0028 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18952 hp1 a0001 c0001 t0001 g0006 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18952 hp2 a0001 c0001 t0001 g0194 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18953 hp1 a0001 c0001 t0001 g0221 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18953 hp2 a0001 c0002 t0001 g0086 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18954 hp1 a0002 c0004 t0001 g0008 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18954 hp2 a0001 c0001 t0001 g0119 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18956 hp1 a0001 c0002 t0001 g0076 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18956 hp2 a0001 c0001 t0007 g0020 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18957 hp1 a0001 c0001 t0001 g0213 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18957 hp2 a0001 c0001 t0001 g0226 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18960 hp1 a0001 c0002 t0001 g0075 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18960 hp2 a0001 c0002 t0001 g0014 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18961 hp1 a0001 c0002 t0001 g0066 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18961 hp2 a0001 c0001 t0001 g0032 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18962 hp1 a0001 c0001 t0001 g0007 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18962 hp2 a0001 c0001 t0001 g0165 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18963 hp1 a0002 c0004 t0001 g0255 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18963 hp2 a0001 c0001 t0001 g0227 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18964 hp1 a0001 c0011 t0001 g0021 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18964 hp2 a0001 c0002 t0001 g0084 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18965 hp1 a0001 c0001 t0001 g0184 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18965 hp2 a0001 c0001 t0001 g0166 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18966 hp1 a0001 c0001 t0001 g0232 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18966 hp2 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18967 hp1 a0001 c0001 t0001 g0013 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18967 hp2 a0001 c0003 t0001 g0158 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18968 hp1 a0001 c0001 t0001 g0037 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18968 hp2 a0001 c0001 t0001 g0039 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18969 hp1 a0001 c0001 t0001 g0029 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18969 hp2 a0001 c0001 t0001 g0012 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18971 hp1 a0007 c0010 t0001 g0043 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18971 hp2 a0001 c0001 t0001 g0212 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18972 hp1 a0001 c0002 t0001 g0080 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18972 hp2 a0001 c0001 t0001 g0200 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18973 hp1 a0001 c0003 t0001 g0027 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18973 hp2 a0001 c0001 t0001 g0036 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18975 hp1 a0001 c0001 t0001 g0191 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18975 hp2 a0001 c0001 t0001 g0003 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18979 hp1 a0001 c0003 t0001 g0152 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18979 hp2 a0001 c0001 t0001 g0031 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18980 hp1 a0001 c0002 t0001 g0085 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18980 hp2 a0001 c0003 t0001 g0155 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18983 hp1 a0001 c0002 t0001 g0081 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18983 hp2 a0001 c0001 t0001 g0003 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18984 hp1 a0001 c0001 t0001 g0172 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18984 hp2 a0001 c0002 t0001 g0079 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18986 hp1 a0001 c0002 t0001 g0067 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18986 hp2 a0001 c0011 t0001 g0021 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18987 hp1 a0001 c0001 t0001 g0002 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18987 hp2 a0001 c0001 t0001 g0161 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18988 hp1 a0001 c0001 t0001 g0038 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18988 hp2 a0002 c0004 t0001 g0246 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18990 hp1 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18990 hp2 a0002 c0004 t0001 g0040 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18991 hp1 a0001 c0001 t0001 g0205 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18991 hp2 a0001 c0002 t0001 g0082 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18993 hp1 a0001 c0001 t0001 g0224 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18993 hp2 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18995 hp1 a0001 c0002 t0001 g0065 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18995 hp2 a0001 c0001 t0015 g0206 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18997 hp1 a0001 c0001 t0001 g0237 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18997 hp2 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18998 hp1 a0001 c0003 t0001 g0151 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18998 hp2 a0001 c0001 t0001 g0235 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18999 hp1 a0001 c0001 t0001 g0003 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA18999 hp2 a0001 c0001 t0001 g0012 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19000 hp1 a0002 c0004 t0001 g0248 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19000 hp2 a0001 c0002 t0001 g0087 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19004 hp1 a0001 c0003 t0001 g0243 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19004 hp2 a0001 c0001 t0001 g0037 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19005 hp1 a0002 c0004 t0001 g0252 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19005 hp2 a0001 c0001 t0001 g0211 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19006 hp1 a0001 c0003 t0001 g0157 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19006 hp2 a0001 c0001 t0001 g0036 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19007 hp1 a0001 c0001 t0001 g0006 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19007 hp2 a0001 c0001 t0001 g0229 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19009 hp1 a0001 c0001 t0001 g0012 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19009 hp2 a0002 c0004 t0001 g0041 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19010 hp1 a0016 c0014 t0001 g0064 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19010 hp2 a0001 c0001 t0001 g0030 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19011 hp1 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19011 hp2 a0001 c0001 t0001 g0013 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19030 hp1 a0001 c0001 t0002 g0129 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19030 hp2 a0001 c0001 t0003 g0274 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19043 hp1 a0001 c0001 t0002 g0141 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19043 hp2 a0001 c0002 t0001 g0094 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19055 hp1 a0001 c0001 t0001 g0183 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19055 hp2 a0001 c0001 t0001 g0163 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19058 hp1 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19058 hp2 a0001 c0001 t0001 g0202 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19062 hp1 a0001 c0001 t0001 g0169 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19062 hp2 a0002 c0004 t0001 g0008 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19063 hp1 a0001 c0002 t0001 g0077 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19063 hp2 a0001 c0001 t0001 g0007 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19065 hp1 a0001 c0001 t0001 g0015 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19065 hp2 a0002 c0004 t0001 g0040 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19068 hp1 a0001 c0001 t0001 g0030 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19068 hp2 a0001 c0001 t0001 g0002 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19070 hp1 a0001 c0001 t0001 g0038 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19070 hp2 a0001 c0002 t0001 g0073 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19072 hp1 a0007 c0010 t0001 g0267 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19072 hp2 a0001 c0001 t0001 g0231 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19078 hp1 a0001 c0002 t0001 g0072 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19078 hp2 a0001 c0001 t0001 g0233 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19079 hp1 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19079 hp2 a0001 c0001 t0001 g0222 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19080 hp1 a0002 c0004 t0001 g0009 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19080 hp2 a0001 c0001 t0001 g0203 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19081 hp1 a0001 c0001 t0001 g0034 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19081 hp2 a0001 c0001 t0001 g0171 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19082 hp1 a0001 c0001 t0001 g0242 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19082 hp2 a0002 c0004 t0001 g0253 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19083 hp1 a0002 c0004 t0001 g0008 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19083 hp2 a0001 c0003 t0001 g0001 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19084 hp1 a0001 c0001 t0001 g0002 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19084 hp2 a0001 c0003 t0001 g0147 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19086 hp1 a0001 c0001 t0001 g0007 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19086 hp2 a0001 c0001 t0001 g0117 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19087 hp1 a0001 c0001 t0001 g0241 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19087 hp2 a0001 c0002 t0001 g0078 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19088 hp1 a0011 c0018 t0001 g0249 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19088 hp2 a0001 c0001 t0001 g0007 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19089 hp1 a0001 c0001 t0001 g0034 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19089 hp2 a0001 c0003 t0001 g0154 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19090 hp1 a0001 c0002 t0001 g0014 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19090 hp2 a0001 c0001 t0001 g0199 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19091 hp1 a0001 c0001 t0001 g0002 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19091 hp2 a0001 c0001 t0001 g0031 EAS JPT SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19240 hp1 a0003 c0005 t0003 g0276 AFR YRI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA19240 hp2 a0001 c0001 t0004 g0262 AFR YRI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20129 hp1 a0001 c0001 t0003 g0045 AFR ASW SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20129 hp2 a0001 c0001 t0004 g0263 AFR ASW SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20805 hp1 a0001 c0003 t0001 g0001 EUR TSI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20805 hp2 a0001 c0002 t0001 g0091 EUR TSI SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20905 hp1 a0001 c0001 t0001 g0002 SAS GIH SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20905 hp2 a0001 c0002 t0001 g0024 SAS GIH SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01123 hp1 a0001 c0016 t0001 g0110 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG01123 hp2 a0001 c0001 t0001 g0002 AMR CLM SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02109 hp1 a0001 c0001 t0003 g0278 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02109 hp2 a0001 c0002 t0001 g0109 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02486 hp1 a0001 c0001 t0005 g0010 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02486 hp2 a0001 c0001 t0002 g0026 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02559 hp1 a0001 c0001 t0008 g0048 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG02559 hp2 a0001 c0001 t0001 g0012 AFR ACB SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03471 hp1 a0004 c0007 t0001 g0111 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
HG03471 hp2 a0004 c0007 t0001 g0112 AFR MSL SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20300 hp1 a0001 c0002 t0001 g0104 AFR USA SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA20300 hp2 a0001 c0001 t0001 g0032 AFR USA SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA21309 hp1 a0013 c0022 t0001 g0258 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
NA21309 hp2 a0001 c0002 t0001 g0023 AFR LWK SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0002 REF REF SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0004 REF REF SOX30_chr5_157620679_157657438 SOX30 chr5 157620679 157657438

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
chr5:157626513 A
A
 G
G
 1 a0004
a0004
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 missense_variant MODERATE c.2089T>C
c.2089T>C
 p.Tyr697His
p.Tyr697His
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 2449/3283 2089/2262 697/753 chr5 157626513
chr5:157626545 C
C
 T
T
 1 a0013
a0013
 1 NA21309.hp1
NA21309.hp1
 missense_variant MODERATE c.2057G>A
c.2057G>A
 p.Arg686Gln
p.Arg686Gln
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 2417/3283 2057/2262 686/753 chr5 157626545
chr5:157638287 G
G
 A
A
 1 a0010
a0010
 1 HG01952.hp2
HG01952.hp2
 missense_variant MODERATE c.1823C>T
c.1823C>T
 p.Pro608Leu
p.Pro608Leu
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 2183/3283 1823/2262 608/753 chr5 157638287
chr5:157638327 G
G
 T
T
 1 a0011
a0011
 1 NA19088.hp1
NA19088.hp1
 missense_variant MODERATE c.1783C>A
c.1783C>A
 p.Pro595Thr
p.Pro595Thr
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 2143/3283 1783/2262 595/753 chr5 157638327
chr5:157638422 T
T
 G
G
 1 a0003
a0003
 9 HG02055.hp2
HG02717.hp1
HG02818.hp2
others(6): Show 
HG02055.hp2
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp1
NA19240.hp1
 missense_variant MODERATE c.1688A>C
c.1688A>C
 p.Gln563Pro
p.Gln563Pro
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 2048/3283 1688/2262 563/753 chr5 157638422
chr5:157638431 G
G
 A
A
 1 a0006
a0006
 3 HG02451.hp1
HG02572.hp1
HG03486.hp2
HG02451.hp1
HG02572.hp1
HG03486.hp2
 missense_variant MODERATE c.1679C>T
c.1679C>T
 p.Ser560Leu
p.Ser560Leu
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 2039/3283 1679/2262 560/753 chr5 157638431
chr5:157638491 A
A
 G
G
 1 a0014
a0014
 1 HG02970.hp1
HG02970.hp1
 missense_variant MODERATE c.1619T>C
c.1619T>C
 p.Leu540Pro
p.Leu540Pro
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 1979/3283 1619/2262 540/753 chr5 157638491
chr5:157646649 T
T
 C
C
 1 a0012
a0012
 1 NA18950.hp2
NA18950.hp2
 missense_variant MODERATE c.1375A>G
c.1375A>G
 p.Thr459Ala
p.Thr459Ala
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/5 1735/3283 1375/2262 459/753 chr5 157646649
chr5:157646739 G
G
 T
T
 4 a0002
a0010
a0011
others(1): Show 
a0002
a0010
a0011
a0016
 33 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(30): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 missense_variant MODERATE c.1285C>A
c.1285C>A
 p.Gln429Lys
p.Gln429Lys
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/5 1645/3283 1285/2262 429/753 chr5 157646739
chr5:157651369 T
T
 C
C
 1 a0007
a0007
 3 NA18946.hp2
NA18971.hp1
NA19072.hp1
NA18946.hp2
NA18971.hp1
NA19072.hp1
 missense_variant MODERATE c.710A>G
c.710A>G
 p.His237Arg
p.His237Arg
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 1070/3283 710/2262 237/753 chr5 157651369
chr5:157651394 C
C
 T
T
 1 a0015
a0015
 1 HG01192.hp2
HG01192.hp2
 missense_variant MODERATE c.685G>A
c.685G>A
 p.Glu229Lys
p.Glu229Lys
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 1045/3283 685/2262 229/753 chr5 157651394
chr5:157651433 C
C
 T
T
 1 a0004
a0004
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 missense_variant MODERATE c.646G>A
c.646G>A
 p.Glu216Lys
p.Glu216Lys
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 1006/3283 646/2262 216/753 chr5 157651433
chr5:157651471 C
C
 T
T
 1 a0009
a0009
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.608G>A
c.608G>A
 p.Ser203Asn
p.Ser203Asn
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 968/3283 608/2262 203/753 chr5 157651471
chr5:157651553 C
C
 T
T
 1 a0016
a0016
 1 NA19010.hp1
NA19010.hp1
 missense_variant MODERATE c.526G>A
c.526G>A
 p.Gly176Ser
p.Gly176Ser
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 886/3283 526/2262 176/753 chr5 157651553
chr5:157651897 G
G
 C
C
 2 a0008
a0009
a0008
a0009
 3 HG01069.hp2
HG01071.hp2
HG02723.hp2
HG01069.hp2
HG01071.hp2
HG02723.hp2
 missense_variant MODERATE c.182C>G
c.182C>G
 p.Ser61Cys
p.Ser61Cys
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 542/3283 182/2262 61/753 chr5 157651897
chr5:157651916 A
A
 G
G
 1 a0005
a0005
 4 HG01175.hp2
HG02698.hp2
HG02738.hp1
others(1): Show 
HG01175.hp2
HG02698.hp2
HG02738.hp1
HG04115.hp2
 missense_variant MODERATE c.163T>C
c.163T>C
 p.Cys55Arg
p.Cys55Arg
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 523/3283 163/2262 55/753 chr5 157651916

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
chr5:157626385 G
G
 A
A
 1 a0001c0015
a0001c0015
 1 HG03209.hp2
HG03209.hp2
 synonymous_variant LOW c.2217C>T
c.2217C>T
 p.Thr739Thr
p.Thr739Thr
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 2577/3283 2217/2262 739/753 chr5 157626385
chr5:157626619 A
A
 G
G
 1 a0001c0021
a0001c0021
 1 HG00597.hp1
HG00597.hp1
 synonymous_variant LOW c.1983T>C
c.1983T>C
 p.Gly661Gly
p.Gly661Gly
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 2343/3283 1983/2262 661/753 chr5 157626619
chr5:157638298 G
G
 A
A
 4 a0001c0003
a0001c0016
a0001c0025
others(1): Show 
a0001c0003
a0001c0016
a0001c0025
a0007c0010
 44 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(41): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 synonymous_variant LOW c.1812C>T
c.1812C>T
 p.Phe604Phe
p.Phe604Phe
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/5 2172/3283 1812/2262 604/753 chr5 157638298
chr5:157648820 T
T
 C
C
 1 a0001c0024
a0001c0024
 1 HG02818.hp1
HG02818.hp1
 synonymous_variant LOW c.1044A>G
c.1044A>G
 p.Ala348Ala
p.Ala348Ala
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/5 1404/3283 1044/2262 348/753 chr5 157648820
chr5:157648838 G
G
 A
A
 1 a0001c0012
a0001c0012
 2 HG03239.hp2
HG03490.hp2
HG03239.hp2
HG03490.hp2
 synonymous_variant LOW c.1026C>T
c.1026C>T
 p.Asn342Asn
p.Asn342Asn
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/5 1386/3283 1026/2262 342/753 chr5 157648838
chr5:157651467 C
C
 G
G
 3 a0001c0002
a0001c0015
a0001c0016
a0001c0002
a0001c0015
a0001c0016
 55 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(52): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.612G>C
c.612G>C
 p.Pro204Pro
p.Pro204Pro
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 972/3283 612/2262 204/753 chr5 157651467
chr5:157651688 G
G
 A
A
 1 a0001c0025
a0001c0025
 1 NA18949.hp2
NA18949.hp2
 synonymous_variant LOW c.391C>T
c.391C>T
 p.Leu131Leu
p.Leu131Leu
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 751/3283 391/2262 131/753 chr5 157651688
chr5:157651740 C
C
 G
G
 1 a0001c0006
a0001c0006
 7 HG01243.hp2
HG02451.hp2
HG02630.hp1
others(4): Show 
HG01243.hp2
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG03130.hp2
HG03486.hp1
NA18906.hp2
 synonymous_variant LOW c.339G>C
c.339G>C
 p.Pro113Pro
p.Pro113Pro
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 699/3283 339/2262 113/753 chr5 157651740
chr5:157651751 G
G
 A
A
 1 a0001c0026
a0001c0026
 1 HG02145.hp2
HG02145.hp2
 synonymous_variant LOW c.328C>T
c.328C>T
 p.Leu110Leu
p.Leu110Leu
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 688/3283 328/2262 110/753 chr5 157651751
chr5:157651974 C
C
 T
T
 1 a0001c0011
a0001c0011
 2 NA18964.hp1
NA18986.hp2
NA18964.hp1
NA18986.hp2
 synonymous_variant LOW c.105G>A
c.105G>A
 p.Glu35Glu
p.Glu35Glu
 SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 465/3283 105/2262 35/753 chr5 157651974

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
chr5:157625718 G
G
 A
A
 1 a0001c0001t0002
a0001c0001t0002
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*622C>T
c.*622C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 622 chr5 157625718
chr5:157625842 A
A
 G
G
 1 a0001c0001t0010
a0001c0001t0010
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 3_prime_UTR_variant MODIFIER c.*498T>C
c.*498T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 498 chr5 157625842
chr5:157625933 C
C
 T
T
 1 a0001c0001t0015
a0001c0001t0015
 1 NA18995.hp2
NA18995.hp2
 3_prime_UTR_variant MODIFIER c.*407G>A
c.*407G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 407 chr5 157625933
chr5:157626095 T
T
 C
C
 1 a0001c0002t0016
a0001c0002t0016
 1 HG01256.hp1
HG01256.hp1
 3_prime_UTR_variant MODIFIER c.*245A>G
c.*245A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 245 chr5 157626095
chr5:157626121 T
T
 A
A
 8 a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
others(5): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0008
a0001c0001t0013
a0003c0005t0003
a0008c0013t0004
a0009c0027t0004
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*219A>T
c.*219A>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 219 chr5 157626121
chr5:157626152 A
A
 G
G
 1 a0014c0020t0014
a0014c0020t0014
 1 HG02970.hp1
HG02970.hp1
 3_prime_UTR_variant MODIFIER c.*188T>C
c.*188T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 188 chr5 157626152
chr5:157626263 C
C
 T
T
 2 a0006c0009t0009
a0006c0009t0011
a0006c0009t0009
a0006c0009t0011
 3 HG02451.hp1
HG02572.hp1
HG03486.hp2
HG02451.hp1
HG02572.hp1
HG03486.hp2
 3_prime_UTR_variant MODIFIER c.*77G>A
c.*77G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 77 chr5 157626263
chr5:157626263 CT
CT
 C
C
 4 a0001c0001t0004
a0001c0001t0013
a0008c0013t0004
others(1): Show 
a0001c0001t0004
a0001c0001t0013
a0008c0013t0004
a0009c0027t0004
 8 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(5): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG02723.hp2
HG02970.hp2
HG03139.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*76delA
c.*76delA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 5/5 76 chr5 157626263
chr5:157652101 A
A
 G
G
 1 a0001c0001t0013
a0001c0001t0013
 1 HG02970.hp2
HG02970.hp2
 5_prime_UTR_variant MODIFIER c.-23T>C
c.-23T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 23 chr5 157652101
chr5:157652135 C
C
 T
T
 1 a0001c0001t0012
a0001c0001t0012
 1 HG03942.hp2
HG03942.hp2
 5_prime_UTR_variant MODIFIER c.-57G>A
c.-57G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 57 chr5 157652135
chr5:157652144 C
C
 G
G
 1 a0001c0001t0007
a0001c0001t0007
 3 HG02523.hp2
NA18939.hp1
NA18956.hp2
HG02523.hp2
NA18939.hp1
NA18956.hp2
 5_prime_UTR_variant MODIFIER c.-66G>C
c.-66G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 66 chr5 157652144
chr5:157652281 C
C
 G
G
 1 a0006c0009t0011
a0006c0009t0011
 1 HG02572.hp1
HG02572.hp1
 5_prime_UTR_variant MODIFIER c.-203G>C
c.-203G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 203 chr5 157652281
chr5:157652288 G
G
 A
A
 2 a0001c0001t0003
a0003c0005t0003
a0001c0001t0003
a0003c0005t0003
 18 HG02055.hp2
HG02109.hp1
HG02280.hp1
others(15): Show 
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
 5_prime_UTR_variant MODIFIER c.-210C>T
c.-210C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 210 chr5 157652288
chr5:157652300 G
G
 T
T
 1 a0001c0001t0008
a0001c0001t0008
 2 HG02559.hp1
HG03195.hp1
HG02559.hp1
HG03195.hp1
 5_prime_UTR_variant MODIFIER c.-222C>A
c.-222C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 222 chr5 157652300
chr5:157652353 T
T
 C
C
 1 a0001c0024t0017
a0001c0024t0017
 1 HG02818.hp1
HG02818.hp1
 5_prime_UTR_variant MODIFIER c.-275A>G
c.-275A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 275 chr5 157652353
chr5:157652432 C
C
 T
T
 1 a0001c0001t0006
a0001c0001t0006
 3 HG00544.hp1
NA18747.hp2
NA18943.hp1
HG00544.hp1
NA18747.hp2
NA18943.hp1
 5_prime_UTR_variant MODIFIER c.-354G>A
c.-354G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/5 354 chr5 157652432

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
chr5:157626784 T
T
 C
C
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1881-63A>G
c.1881-63A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157626784
chr5:157626900 A
A
 C
C
 85 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(82): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 114 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(111): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-179T>G
c.1881-179T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157626900
chr5:157627072 G
G
 T
T
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-351C>A
c.1881-351C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627072
chr5:157627091 C
C
 T
T
 2 a0008c0013t0004g0044
a0009c0027t0004g0270
a0008c0013t0004g0044
a0009c0027t0004g0270
 3 HG01069.hp2
HG01071.hp2
HG02723.hp2
HG01069.hp2
HG01071.hp2
HG02723.hp2
 intron_variant MODIFIER c.1881-370G>A
c.1881-370G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627091
chr5:157627149 G
G
 A
A
 1 a0001c0006t0001g0062
a0001c0006t0001g0062
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1881-428C>T
c.1881-428C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627149
chr5:157627178 A
A
 G
G
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-457T>C
c.1881-457T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627178
chr5:157627192 T
T
 C
C
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-471A>G
c.1881-471A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627192
chr5:157627343 C
C
 A
A
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-622G>T
c.1881-622G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627343
chr5:157627357 G
G
 A
A
 1 a0001c0001t0003g0279
a0001c0001t0003g0279
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1881-636C>T
c.1881-636C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627357
chr5:157627425 C
C
 T
T
 28 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(25): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-704G>A
c.1881-704G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627425
chr5:157627529 A
A
 G
G
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-808T>C
c.1881-808T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627529
chr5:157627535 G
G
 A
A
 2 a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0120
a0001c0001t0001g0121
 2 HG02258.hp1
HG03540.hp2
HG02258.hp1
HG03540.hp2
 intron_variant MODIFIER c.1881-814C>T
c.1881-814C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627535
chr5:157627717 G
G
 A
A
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1881-996C>T
c.1881-996C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627717
chr5:157627720 C
C
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-999G>T
c.1881-999G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627720
chr5:157627722 C
C
 T
T
 28 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(25): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-1001G>A
c.1881-1001G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627722
chr5:157627744 C
C
 T
T
 2 a0001c0001t0001g0175
a0001c0001t0001g0179
a0001c0001t0001g0175
a0001c0001t0001g0179
 2 HG02738.hp2
HG04184.hp2
HG02738.hp2
HG04184.hp2
 intron_variant MODIFIER c.1881-1023G>A
c.1881-1023G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627744
chr5:157627791 G
G
 A
A
 2 a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0120
a0001c0001t0001g0121
 2 HG02258.hp1
HG03540.hp2
HG02258.hp1
HG03540.hp2
 intron_variant MODIFIER c.1881-1070C>T
c.1881-1070C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627791
chr5:157627801 T
T
 C
C
 1 a0001c0001t0008g0048
a0001c0001t0008g0048
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1881-1080A>G
c.1881-1080A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627801
chr5:157627863 G
G
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-1142C>T
c.1881-1142C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627863
chr5:157627950 C
C
 T
T
 26 a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
others(23): Show 
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0016t0001g0110
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
 44 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(41): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1881-1229G>A
c.1881-1229G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627950
chr5:157627993 C
C
 CA
CA
 6 a0001c0001t0001g0205
a0001c0001t0001g0233
a0001c0002t0001g0070
others(3): Show 
a0001c0001t0001g0205
a0001c0001t0001g0233
a0001c0002t0001g0070
a0001c0002t0001g0080
a0001c0002t0001g0082
a0002c0004t0001g0255
 6 HG03098.hp1
NA18963.hp1
NA18972.hp1
others(3): Show 
HG03098.hp1
NA18963.hp1
NA18972.hp1
NA18991.hp1
NA18991.hp2
NA19078.hp2
 intron_variant MODIFIER c.1881-1273dupT
c.1881-1273dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157627993
chr5:157628039 G
G
 A
A
 85 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(82): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 114 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(111): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-1318C>T
c.1881-1318C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628039
chr5:157628166 A
A
 T
T
 23 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(20): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0024t0017g0281
 28 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(25): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02818.hp1
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-1445T>A
c.1881-1445T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628166
chr5:157628167 A
A
 T
T
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-1446T>A
c.1881-1446T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628167
chr5:157628213 A
A
 G
G
 1 a0001c0015t0001g0099
a0001c0015t0001g0099
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1881-1492T>C
c.1881-1492T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628213
chr5:157628268 G
G
 C
C
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1881-1547C>G
c.1881-1547C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628268
chr5:157628276 G
G
 A
A
 1 a0001c0001t0001g0208
a0001c0001t0001g0208
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1881-1555C>T
c.1881-1555C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628276
chr5:157628325 G
G
 A
A
 26 a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
others(23): Show 
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0016t0001g0110
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
 44 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(41): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1881-1604C>T
c.1881-1604C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628325
chr5:157628365 T
T
 TCA
TCA
 22 a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0184
others(19): Show 
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0184
a0001c0001t0001g0189
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0201
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0217
a0001c0001t0001g0225
a0001c0001t0001g0233
a0001c0001t0001g0237
a0001c0001t0008g0048
a0001c0001t0015g0206
a0001c0003t0001g0146
a0001c0003t0001g0149
a0001c0003t0001g0159
a0001c0012t0001g0239
a0001c0016t0001g0110
a0012c0023t0001g0234
a0015c0017t0001g0116
 22 HG00140.hp1
HG00741.hp2
HG01123.hp1
others(19): Show 
HG00140.hp1
HG00741.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp2
HG01496.hp2
HG02071.hp2
HG02258.hp1
HG02559.hp1
HG03490.hp2
HG03540.hp2
HG03704.hp2
HG04184.hp1
HG04199.hp2
NA18942.hp2
NA18946.hp1
NA18950.hp2
NA18952.hp2
NA18965.hp1
NA18995.hp2
NA18997.hp1
NA19078.hp2
 intron_variant MODIFIER c.1881-1646_1881-164
others(6): Show 
c.1881-1646_1881-1645dupTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 T
T
 TCACA
TCACA
 23 a0001c0001t0001g0174
a0001c0001t0001g0179
a0001c0001t0001g0193
others(20): Show 
a0001c0001t0001g0174
a0001c0001t0001g0179
a0001c0001t0001g0193
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0231
a0001c0001t0001g0266
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0152
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0025t0001g0268
a0007c0010t0001g0043
 41 HG00323.hp2
HG00408.hp2
HG00621.hp2
others(38): Show 
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG02027.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp2
NA19079.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1881-1648_1881-164
others(8): Show 
c.1881-1648_1881-1645dupTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 T
T
 TCACACA
TCACACA
 10 a0001c0001t0001g0173
a0001c0001t0001g0185
a0001c0001t0001g0187
others(7): Show 
a0001c0001t0001g0173
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0222
a0001c0001t0006g0046
a0001c0003t0001g0145
a0001c0003t0001g0150
a0001c0003t0001g0153
a0001c0026t0001g0269
a0007c0010t0001g0267
 10 HG00544.hp1
HG00673.hp1
HG01496.hp1
others(7): Show 
HG00544.hp1
HG00673.hp1
HG01496.hp1
HG02145.hp2
HG02155.hp2
HG02698.hp1
HG03098.hp2
HG03491.hp2
NA19072.hp1
NA19079.hp2
 intron_variant MODIFIER c.1881-1650_1881-164
others(10): Show 
c.1881-1650_1881-1645dupTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 T
T
 TCACACAC
others(1): Show 
TCACACACA
 3 a0001c0001t0001g0188
a0001c0003t0001g0151
a0001c0003t0001g0156
a0001c0001t0001g0188
a0001c0003t0001g0151
a0001c0003t0001g0156
 3 HG01952.hp1
HG03927.hp2
NA18998.hp1
HG01952.hp1
HG03927.hp2
NA18998.hp1
 intron_variant MODIFIER c.1881-1652_1881-164
others(12): Show 
c.1881-1652_1881-1645dupTGTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCA
TCA
 T
T
 42 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
others(39): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0117
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0200
a0001c0001t0001g0215
a0001c0001t0001g0219
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0004g0261
a0001c0001t0007g0050
a0001c0002t0001g0023
a0001c0002t0001g0076
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0091
a0001c0002t0001g0098
a0003c0005t0003g0276
a0003c0005t0003g0277
a0006c0009t0009g0035
a0006c0009t0011g0049
 64 HG00280.hp2
HG00423.hp1
HG00609.hp2
others(61): Show 
HG00280.hp2
HG00423.hp1
HG00609.hp2
HG00639.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01255.hp2
HG01361.hp1
HG01934.hp1
HG01934.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG03139.hp2
HG03486.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp1
NA18962.hp1
NA18965.hp2
NA18968.hp2
NA18972.hp2
NA18975.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18991.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19030.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp1
NA19068.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-1646_1881-164
others(6): Show 
c.1881-1646_1881-1645delTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCACA
TCACA
 T
T
 36 a0001c0001t0001g0012
a0001c0001t0001g0028
a0001c0001t0001g0165
others(33): Show 
a0001c0001t0001g0012
a0001c0001t0001g0028
a0001c0001t0001g0165
a0001c0001t0001g0229
a0001c0001t0003g0045
a0001c0001t0003g0280
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0002t0001g0014
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0090
a0001c0002t0001g0092
a0001c0002t0001g0096
a0001c0006t0001g0057
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0063
a0001c0024t0017g0281
a0003c0005t0003g0005
a0003c0005t0003g0275
 53 HG00558.hp2
HG00621.hp1
HG01074.hp2
others(50): Show 
HG00558.hp2
HG00621.hp1
HG01074.hp2
HG01243.hp1
HG01243.hp2
HG02083.hp2
HG02135.hp1
HG02486.hp1
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp1
HG03516.hp2
NA18939.hp1
NA18951.hp2
NA18953.hp2
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18980.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19007.hp2
NA19009.hp1
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1881-1648_1881-164
others(8): Show 
c.1881-1648_1881-1645delTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCACACA
TCACACA
 T
T
 34 a0001c0001t0001g0118
a0001c0001t0002g0133
a0001c0001t0002g0141
others(31): Show 
a0001c0001t0001g0118
a0001c0001t0002g0133
a0001c0001t0002g0141
a0001c0001t0004g0260
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0008g0047
a0001c0001t0013g0052
a0001c0002t0001g0022
a0001c0002t0001g0024
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0058
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0015t0001g0099
a0005c0008t0001g0055
a0008c0013t0004g0044
a0009c0027t0004g0270
a0014c0020t0014g0134
 37 HG00140.hp2
HG00738.hp1
HG01069.hp2
others(34): Show 
HG00140.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01175.hp1
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02451.hp2
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1881-1650_1881-164
others(10): Show 
c.1881-1650_1881-1645delTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCACACAC
others(1): Show 
TCACACACA
 T
T
 23 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(20): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0012g0051
a0001c0002t0001g0105
a0002c0004t0001g0251
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0056
a0013c0022t0001g0258
 28 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(25): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp2
HG02738.hp1
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03654.hp2
HG03942.hp2
HG04228.hp1
NA18906.hp1
NA21309.hp1
 intron_variant MODIFIER c.1881-1652_1881-164
others(12): Show 
c.1881-1652_1881-1645delTGTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCACACAC
others(3): Show 
TCACACACACA
 T
T
 28 a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
others(25): Show 
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0129
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02257.hp2
HG02572.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-1654_1881-164
others(14): Show 
c.1881-1654_1881-1645delTGTGTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628365 TCACACAC
others(5): Show 
TCACACACACACA
 T
T
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1881-1656_1881-164
others(16): Show 
c.1881-1656_1881-1645delTGTGTGTGTGTG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628365
chr5:157628483 C
C
 G
G
 2 a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0004g0262
a0001c0001t0004g0263
 2 NA19240.hp2
NA20129.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1881-1762G>C
c.1881-1762G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628483
chr5:157628598 C
C
 T
T
 2 a0001c0006t0001g0058
a0001c0006t0001g0061
a0001c0006t0001g0058
a0001c0006t0001g0061
 2 HG03130.hp2
NA18906.hp2
HG03130.hp2
NA18906.hp2
 intron_variant MODIFIER c.1881-1877G>A
c.1881-1877G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628598
chr5:157628599 G
G
 A
A
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 2 HG01891.hp1
HG02486.hp2
HG01891.hp1
HG02486.hp2
 intron_variant MODIFIER c.1881-1878C>T
c.1881-1878C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628599
chr5:157628643 C
C
 CT
CT
 35 a0001c0001t0001g0017
a0001c0001t0001g0036
a0001c0001t0001g0118
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0036
a0001c0001t0001g0118
a0001c0001t0001g0182
a0001c0001t0001g0203
a0001c0001t0001g0212
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0231
a0001c0001t0001g0235
a0001c0001t0001g0237
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0001c0002t0001g0076
a0001c0002t0001g0083
a0001c0011t0001g0021
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 50 HG00423.hp2
HG00558.hp1
HG00621.hp1
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00621.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA18956.hp1
NA18964.hp1
NA18971.hp2
NA18973.hp2
NA18986.hp2
NA18997.hp1
NA18998.hp2
NA19006.hp2
NA19030.hp2
NA19072.hp2
NA19079.hp2
NA19080.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1881-1923dupA
c.1881-1923dupA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628643
chr5:157628643 CT
CT
 C
C
 31 a0001c0001t0001g0167
a0001c0001t0001g0209
a0001c0006t0001g0057
others(28): Show 
a0001c0001t0001g0167
a0001c0001t0001g0209
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0021t0001g0192
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0113
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 44 HG00408.hp1
HG00544.hp2
HG00597.hp1
others(41): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG01081.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-1923delA
c.1881-1923delA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628643
chr5:157628728 G
G
 A
A
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1881-2007C>T
c.1881-2007C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628728
chr5:157628767 G
G
 A
A
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1881-2046C>T
c.1881-2046C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628767
chr5:157628791 G
G
 A
A
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1881-2070C>T
c.1881-2070C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628791
chr5:157628936 C
C
 T
T
 28 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(25): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-2215G>A
c.1881-2215G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157628936
chr5:157629032 G
G
 A
A
 1 a0001c0002t0001g0074
a0001c0002t0001g0074
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1881-2311C>T
c.1881-2311C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629032
chr5:157629063 T
T
 C
C
 6 a0001c0001t0001g0118
a0004c0007t0001g0111
a0004c0007t0001g0112
others(3): Show 
a0001c0001t0001g0118
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 6 HG01943.hp2
HG01981.hp1
HG02055.hp1
others(3): Show 
HG01943.hp2
HG01981.hp1
HG02055.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1881-2342A>G
c.1881-2342A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629063
chr5:157629269 G
G
 A
A
 5 a0001c0001t0001g0015
a0001c0001t0001g0166
a0001c0001t0001g0169
others(2): Show 
a0001c0001t0001g0015
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0003g0045
a0001c0001t0003g0280
 8 HG03195.hp2
HG03225.hp1
NA18942.hp1
others(5): Show 
HG03195.hp2
HG03225.hp1
NA18942.hp1
NA18944.hp2
NA18965.hp2
NA19062.hp1
NA19065.hp1
NA20129.hp1
 intron_variant MODIFIER c.1881-2548C>T
c.1881-2548C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629269
chr5:157629306 C
C
 T
T
 2 a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0273
a0001c0001t0003g0274
 2 HG02622.hp1
NA19030.hp2
HG02622.hp1
NA19030.hp2
 intron_variant MODIFIER c.1881-2585G>A
c.1881-2585G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629306
chr5:157629466 G
G
 C
C
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-2745C>G
c.1881-2745C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629466
chr5:157629506 T
T
 C
C
 2 a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0004g0262
a0001c0001t0004g0263
 2 NA19240.hp2
NA20129.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1881-2785A>G
c.1881-2785A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629506
chr5:157629742 A
A
 C
C
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1881-3021T>G
c.1881-3021T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629742
chr5:157629802 T
T
 C
C
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1881-3081A>G
c.1881-3081A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629802
chr5:157629839 C
C
 T
T
 1 a0001c0001t0001g0213
a0001c0001t0001g0213
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1881-3118G>A
c.1881-3118G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157629839
chr5:157630109 G
G
 A
A
 57 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(54): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0013c0022t0001g0258
 73 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(70): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-3388C>T
c.1881-3388C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630109
chr5:157630191 G
G
 A
A
 35 a0001c0001t0001g0118
a0001c0001t0003g0045
a0001c0001t0003g0271
others(32): Show 
a0001c0001t0001g0118
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0013c0022t0001g0258
 46 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(43): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01943.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-3470C>T
c.1881-3470C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630191
chr5:157630240 T
T
 C
C
 2 a0002c0004t0001g0040
a0011c0018t0001g0249
a0002c0004t0001g0040
a0011c0018t0001g0249
 3 NA18990.hp2
NA19065.hp2
NA19088.hp1
NA18990.hp2
NA19065.hp2
NA19088.hp1
 intron_variant MODIFIER c.1881-3519A>G
c.1881-3519A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630240
chr5:157630338 C
C
 T
T
 1 a0001c0001t0004g0262
a0001c0001t0004g0262
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1881-3617G>A
c.1881-3617G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630338
chr5:157630361 G
G
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-3640C>T
c.1881-3640C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630361
chr5:157630414 C
C
 G
G
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-3693G>C
c.1881-3693G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630414
chr5:157630838 T
T
 C
C
 2 a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0130
a0001c0001t0002g0131
 2 HG02922.hp2
HG03453.hp2
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1881-4117A>G
c.1881-4117A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630838
chr5:157630856 T
T
 C
C
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-4135A>G
c.1881-4135A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630856
chr5:157630863 TTA
TTA
 T
T
 88 a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
others(85): Show 
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 117 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(114): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-4144_1881-414
others(6): Show 
c.1881-4144_1881-4143delTA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630863
chr5:157630876 T
T
 C
C
 2 a0001c0001t0001g0211
a0001c0026t0001g0269
a0001c0001t0001g0211
a0001c0026t0001g0269
 2 HG02145.hp2
NA19005.hp2
HG02145.hp2
NA19005.hp2
 intron_variant MODIFIER c.1881-4155A>G
c.1881-4155A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630876
chr5:157630886 A
A
 G
G
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.1881-4165T>C
c.1881-4165T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630886
chr5:157630913 A
A
 G
G
 1 a0001c0026t0001g0269
a0001c0026t0001g0269
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1881-4192T>C
c.1881-4192T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630913
chr5:157630929 A
A
 ATT
ATT
 23 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(20): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0024t0017g0281
 28 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(25): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02818.hp1
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-4210_1881-420
others(6): Show 
c.1881-4210_1881-4209dupAA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630929
chr5:157630930 TTA
TTA
 T
T
 8 a0001c0001t0001g0033
a0001c0001t0001g0119
a0001c0001t0001g0162
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0001g0119
a0001c0001t0001g0162
a0001c0001t0001g0198
a0001c0001t0001g0201
a0001c0001t0001g0218
a0005c0008t0001g0056
a0014c0020t0014g0134
 9 HG01257.hp2
HG01258.hp2
HG02015.hp1
others(6): Show 
HG01257.hp2
HG01258.hp2
HG02015.hp1
HG02071.hp2
HG02738.hp1
HG02970.hp1
HG03654.hp1
NA18951.hp1
NA18954.hp2
 intron_variant MODIFIER c.1881-4211_1881-421
others(6): Show 
c.1881-4211_1881-4210delTA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630930
chr5:157630973 A
A
 T
T
 1 a0001c0003t0001g0154
a0001c0003t0001g0154
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1881-4252T>A
c.1881-4252T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157630973
chr5:157631024 T
T
 C
C
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1881-4303A>G
c.1881-4303A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631024
chr5:157631035 A
A
 T
T
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1881-4314T>A
c.1881-4314T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631035
chr5:157631045 TTTTA
TTTTA
 T
T
 3 a0005c0008t0001g0053
a0005c0008t0001g0055
a0005c0008t0001g0056
a0005c0008t0001g0053
a0005c0008t0001g0055
a0005c0008t0001g0056
 3 HG01175.hp2
HG02738.hp1
HG04115.hp2
HG01175.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.1881-4328_1881-432
others(8): Show 
c.1881-4328_1881-4325delTAAA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631045
chr5:157631047 T
T
 G
G
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-4326A>C
c.1881-4326A>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631047
chr5:157631047 T
T
 TTA
TTA
 17 a0001c0001t0001g0214
a0002c0004t0001g0008
a0002c0004t0001g0009
others(14): Show 
a0001c0001t0001g0214
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0011c0018t0001g0249
a0016c0014t0001g0064
 28 HG00408.hp1
HG00597.hp2
HG00609.hp1
others(25): Show 
HG00408.hp1
HG00597.hp2
HG00609.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-4328_1881-432
others(6): Show 
c.1881-4328_1881-4327dupTA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631047
chr5:157631047 T
T
 TTATA
TTATA
 4 a0002c0004t0001g0018
a0002c0004t0001g0246
a0002c0004t0001g0253
others(1): Show 
a0002c0004t0001g0018
a0002c0004t0001g0246
a0002c0004t0001g0253
a0010c0019t0001g0254
 6 HG00544.hp2
HG01952.hp2
HG01975.hp1
others(3): Show 
HG00544.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
NA18988.hp2
NA19082.hp2
 intron_variant MODIFIER c.1881-4330_1881-432
others(8): Show 
c.1881-4330_1881-4327dupTATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631047
chr5:157631047 TTATA
TTATA
 T
T
 9 a0001c0001t0001g0118
a0001c0001t0001g0215
a0001c0001t0001g0216
others(6): Show 
a0001c0001t0001g0118
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0004g0260
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 9 HG01943.hp2
HG01981.hp1
HG01981.hp2
others(6): Show 
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02074.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1881-4330_1881-432
others(8): Show 
c.1881-4330_1881-4327delTATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631047
chr5:157631049 A
A
 ATATATAT
others(45): Show 
ATATATATATATACAATATATATATTTTATATATATATATACAATATATA
TAT
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-4329_1881-432
others(56): Show 
c.1881-4329_1881-4328insATATATATATTGTATATATATATATA
AAATATATATATTGTATATATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631049
chr5:157631051 A
A
 ATATATAT
others(15): Show 
ATATATATACAATATATATATTT
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.1881-4331_1881-433
others(26): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(17): Show 
ATATATATATACAATATATATATTT
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1881-4331_1881-433
others(28): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(45): Show 
ATATATATATACAATATATATATTTTATATATATATATACAATATATATA
TTT
 6 a0001c0001t0002g0011
a0001c0001t0002g0135
a0001c0001t0002g0136
others(3): Show 
a0001c0001t0002g0011
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
 9 HG00099.hp1
HG00639.hp2
HG00735.hp1
others(6): Show 
HG00099.hp1
HG00639.hp2
HG00735.hp1
HG01081.hp1
HG01099.hp2
HG01256.hp2
HG01258.hp1
HG03017.hp2
HG04228.hp1
 intron_variant MODIFIER c.1881-4331_1881-433
others(56): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATATATA
TAAAATATATATATTGTATATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(73): Show 
ATATATATATACAATATATATATTTTATATATATATATACAATATATATA
TTTTATATATATATATACAATATATATATTT
 1 a0001c0001t0002g0137
a0001c0001t0002g0137
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1881-4331_1881-433
others(84): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATATATA
TAAAATATATATATTGTATATATATATATAAAATATATATATTGTATATA
TATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(47): Show 
ATATATATATACAATATATATATTTTATATATATATATATACAATATATA
TATTT
 2 a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0130
a0001c0001t0002g0131
 2 HG02922.hp2
HG03453.hp2
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1881-4331_1881-433
others(58): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATATATA
TATAAAATATATATATTGTATATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(19): Show 
ATATATATATATACAATATATATATTT
 10 a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
others(7): Show 
a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0132
 11 HG01070.hp2
HG01167.hp2
HG01169.hp1
others(8): Show 
HG01070.hp2
HG01167.hp2
HG01169.hp1
HG02145.hp1
HG02257.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG03540.hp1
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.1881-4331_1881-433
others(30): Show 
c.1881-4331_1881-4330insAAATATATATATTGTATATATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631051 A
A
 ATATATAT
others(21): Show 
ATATATATATATATATAATATATATATTT
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1881-4331_1881-433
others(32): Show 
c.1881-4331_1881-4330insAAATATATATATTATATATATATATA
TA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631051
chr5:157631053 A
A
 ATATATAC
others(69): Show 
ATATATACAATATATATATTTTATATATATATACAATATATATATTTTAT
ATATATATACAATATATATATTGTGTG
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-4333_1881-433
others(80): Show 
c.1881-4333_1881-4332insCACACAATATATATATTGTATATATA
TATAAAATATATATATTGTATATATATATAAAATATATATATTGTATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631053
chr5:157631053 A
A
 ATATATAT
others(43): Show 
ATATATATACAATATATATATTTTATATATATATATACAATATATATATT
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 2 HG01891.hp1
HG02486.hp2
HG01891.hp1
HG02486.hp2
 intron_variant MODIFIER c.1881-4333_1881-433
others(54): Show 
c.1881-4333_1881-4332insAAATATATATATTGTATATATATATA
TAAAATATATATATTGTATATATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631053
chr5:157631060 TATATATA
others(3): Show 
TATATATATAC
 T
T
 4 a0001c0002t0001g0024
a0001c0002t0001g0093
a0001c0002t0001g0108
others(1): Show 
a0001c0002t0001g0024
a0001c0002t0001g0093
a0001c0002t0001g0108
a0001c0002t0001g0109
 5 HG00140.hp2
HG02015.hp2
HG02109.hp2
others(2): Show 
HG00140.hp2
HG02015.hp2
HG02109.hp2
HG02976.hp1
NA20905.hp2
 intron_variant MODIFIER c.1881-4349_1881-434
others(14): Show 
c.1881-4349_1881-4340delGTATATATAT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631060
chr5:157631062 TATATATA
others(1): Show 
TATATATAC
 T
T
 69 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(66): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0016g0095
a0001c0015t0001g0099
a0015c0017t0001g0116
 92 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(89): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00621.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02523.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp2
NA19007.hp1
NA19010.hp2
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19081.hp2
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-4349_1881-434
others(12): Show 
c.1881-4349_1881-4342delGTATATAT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631062
chr5:157631064 TATATAC
TATATAC
 T
T
 28 a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
others(25): Show 
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0016t0001g0110
a0001c0025t0001g0268
a0001c0026t0001g0269
a0007c0010t0001g0043
a0007c0010t0001g0267
a0014c0020t0014g0134
 46 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(43): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02145.hp2
HG02155.hp2
HG02698.hp1
HG02970.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1881-4349_1881-434
others(10): Show 
c.1881-4349_1881-4344delGTATAT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631064
chr5:157631066 TATAC
TATAC
 T
T
 92 a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0012
others(89): Show 
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0004g0261
a0001c0001t0006g0019
a0001c0001t0006g0046
a0001c0001t0008g0048
a0001c0001t0010g0195
a0001c0001t0010g0204
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0001t0015g0206
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0011t0001g0021
a0001c0012t0001g0239
a0001c0012t0001g0240
a0001c0021t0001g0192
a0005c0008t0001g0054
a0006c0009t0009g0035
a0006c0009t0011g0049
a0009c0027t0004g0270
a0012c0023t0001g0234
a0013c0022t0001g0258
 126 HG00099.hp2
HG00280.hp1
HG00423.hp2
others(123): Show 
HG00099.hp2
HG00280.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00609.hp2
HG00673.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG02015.hp1
HG02027.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03704.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18968.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp2
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18991.hp1
NA18993.hp1
NA18995.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19068.hp2
NA19070.hp1
NA19072.hp2
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1881-4349_1881-434
others(8): Show 
c.1881-4349_1881-4346delGTAT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631066
chr5:157631068 TAC
TAC
 T
T
 16 a0001c0001t0001g0013
a0001c0001t0001g0230
a0001c0001t0003g0045
others(13): Show 
a0001c0001t0001g0013
a0001c0001t0001g0230
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0006t0001g0060
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
 26 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(23): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02135.hp2
HG02280.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
NA18967.hp1
NA19011.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1881-4349_1881-434
others(6): Show 
c.1881-4349_1881-4348delGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631068
chr5:157631070 C
C
 T
T
 38 a0001c0001t0001g0177
a0001c0001t0001g0181
a0001c0001t0001g0200
others(35): Show 
a0001c0001t0001g0177
a0001c0001t0001g0181
a0001c0001t0001g0200
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0220
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0005c0008t0001g0053
a0005c0008t0001g0055
a0005c0008t0001g0056
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 55 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(52): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01175.hp2
HG01243.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02486.hp1
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp2
HG03654.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp1
NA18963.hp1
NA18971.hp2
NA18972.hp2
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1881-4349G>A
c.1881-4349G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631070
chr5:157631084 A
A
 G
G
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-4363T>C
c.1881-4363T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631084
chr5:157631149 T
T
 C
C
 1 a0001c0002t0001g0090
a0001c0002t0001g0090
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1881-4428A>G
c.1881-4428A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631149
chr5:157631420 T
T
 G
G
 1 a0001c0006t0001g0057
a0001c0006t0001g0057
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1881-4699A>C
c.1881-4699A>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631420
chr5:157631548 G
G
 T
T
 1 a0001c0002t0001g0079
a0001c0002t0001g0079
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1881-4827C>A
c.1881-4827C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631548
chr5:157631607 A
A
 T
T
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-4886T>A
c.1881-4886T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631607
chr5:157631764 C
C
 CA
CA
 14 a0001c0001t0001g0031
a0001c0001t0001g0183
a0001c0001t0001g0184
others(11): Show 
a0001c0001t0001g0031
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0217
a0001c0001t0001g0222
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0233
a0001c0001t0001g0236
a0001c0002t0001g0072
a0001c0002t0001g0078
a0001c0021t0001g0192
a0002c0004t0001g0252
 15 HG00597.hp1
HG00673.hp1
NA18940.hp2
others(12): Show 
HG00597.hp1
HG00673.hp1
NA18940.hp2
NA18942.hp2
NA18957.hp2
NA18963.hp2
NA18965.hp1
NA18979.hp2
NA19005.hp1
NA19055.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1881-5044dupT
c.1881-5044dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631764
chr5:157631764 CA
CA
 C
C
 61 a0001c0001t0001g0118
a0001c0001t0001g0190
a0001c0001t0001g0198
others(58): Show 
a0001c0001t0001g0118
a0001c0001t0001g0190
a0001c0001t0001g0198
a0001c0001t0002g0130
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0104
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0153
a0001c0003t0001g0155
a0001c0003t0001g0157
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0006t0001g0057
a0001c0012t0001g0239
a0001c0024t0017g0281
a0001c0025t0001g0268
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0007c0010t0001g0043
a0007c0010t0001g0267
a0008c0013t0004g0044
a0009c0027t0004g0270
a0013c0022t0001g0258
 90 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(87): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01981.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp1
HG02155.hp2
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18971.hp1
NA18973.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19030.hp2
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1881-5044delT
c.1881-5044delT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631764
chr5:157631798 C
C
 T
T
 20 a0001c0002t0001g0014
a0001c0002t0001g0065
a0001c0002t0001g0066
others(17): Show 
a0001c0002t0001g0014
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
 22 HG00558.hp2
HG00621.hp1
HG02135.hp1
others(19): Show 
HG00558.hp2
HG00621.hp1
HG02135.hp1
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
 intron_variant MODIFIER c.1881-5077G>A
c.1881-5077G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631798
chr5:157631811 A
A
 T
T
 4 a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
others(1): Show 
a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
 5 HG01070.hp2
HG01167.hp2
HG01169.hp1
others(2): Show 
HG01070.hp2
HG01167.hp2
HG01169.hp1
HG02622.hp2
NA18906.hp1
 intron_variant MODIFIER c.1881-5090T>A
c.1881-5090T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157631811
chr5:157632047 T
T
 TA
TA
 29 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(26): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0039
a0001c0001t0001g0117
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0235
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0021t0001g0192
a0006c0009t0011g0049
a0015c0017t0001g0116
 49 HG00423.hp1
HG00423.hp2
HG00597.hp1
others(46): Show 
HG00423.hp1
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01255.hp1
HG01361.hp1
HG01361.hp2
HG01934.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG02572.hp1
HG03491.hp1
HG04184.hp2
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18998.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp1
NA19081.hp2
NA19086.hp2
NA19089.hp1
 intron_variant MODIFIER c.1881-5327dupT
c.1881-5327dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
TAAAAAAA
 2 a0003c0005t0003g0005
a0003c0005t0003g0276
a0003c0005t0003g0005
a0003c0005t0003g0276
 7 HG02717.hp1
HG02818.hp2
HG02965.hp1
others(4): Show 
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
NA19240.hp1
 intron_variant MODIFIER c.1881-5333_1881-532
others(11): Show 
c.1881-5333_1881-5327dupTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1881-5337_1881-532
others(15): Show 
c.1881-5337_1881-5327dupTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1881-5338_1881-532
others(16): Show 
c.1881-5338_1881-5327dupTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 2 a0001c0002t0001g0024
a0001c0002t0001g0108
a0001c0002t0001g0024
a0001c0002t0001g0108
 3 HG00140.hp2
HG02976.hp1
NA20905.hp2
HG00140.hp2
HG02976.hp1
NA20905.hp2
 intron_variant MODIFIER c.1881-5339_1881-532
others(17): Show 
c.1881-5339_1881-5327dupTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 16 a0001c0002t0001g0023
a0001c0002t0001g0068
a0001c0002t0001g0070
others(13): Show 
a0001c0002t0001g0023
a0001c0002t0001g0068
a0001c0002t0001g0070
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0107
a0001c0002t0001g0109
a0001c0002t0016g0095
a0004c0007t0001g0113
 17 HG00639.hp1
HG01074.hp2
HG01106.hp1
others(14): Show 
HG00639.hp1
HG01074.hp2
HG01106.hp1
HG01256.hp1
HG01934.hp1
HG01943.hp2
HG02015.hp2
HG02109.hp2
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG03098.hp1
HG03516.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1881-5340_1881-532
others(18): Show 
c.1881-5340_1881-5327dupTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 10 a0001c0002t0001g0022
a0001c0002t0001g0071
a0001c0002t0001g0077
others(7): Show 
a0001c0002t0001g0022
a0001c0002t0001g0071
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0091
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0004c0007t0001g0111
a0004c0007t0001g0114
 11 HG00738.hp1
HG01175.hp1
HG01255.hp2
others(8): Show 
HG00738.hp1
HG01175.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA19063.hp1
NA19087.hp2
NA20805.hp2
 intron_variant MODIFIER c.1881-5341_1881-532
others(19): Show 
c.1881-5341_1881-5327dupTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 9 a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0002t0001g0067
others(6): Show 
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0002t0001g0067
a0001c0002t0001g0069
a0001c0002t0001g0079
a0001c0002t0001g0086
a0001c0002t0001g0104
a0001c0002t0001g0105
a0004c0007t0001g0115
 9 HG00741.hp1
HG01884.hp2
HG02622.hp1
others(6): Show 
HG00741.hp1
HG01884.hp2
HG02622.hp1
HG03225.hp2
NA18953.hp2
NA18984.hp2
NA18986.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1881-5342_1881-532
others(20): Show 
c.1881-5342_1881-5327dupTTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 12 a0001c0002t0001g0014
a0001c0002t0001g0065
a0001c0002t0001g0066
others(9): Show 
a0001c0002t0001g0014
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0085
a0001c0002t0001g0087
a0001c0002t0001g0106
 14 HG02135.hp1
HG02257.hp1
NA18956.hp1
others(11): Show 
HG02135.hp1
HG02257.hp1
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19078.hp1
NA19090.hp1
 intron_variant MODIFIER c.1881-5343_1881-532
others(21): Show 
c.1881-5343_1881-5327dupTTTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 8 a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
others(5): Show 
a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0083
a0001c0002t0001g0084
 9 HG00558.hp2
HG00621.hp1
HG01070.hp2
others(6): Show 
HG00558.hp2
HG00621.hp1
HG01070.hp2
HG01167.hp2
HG01169.hp1
HG02622.hp2
NA18906.hp1
NA18964.hp2
NA19070.hp2
 intron_variant MODIFIER c.1881-5344_1881-532
others(22): Show 
c.1881-5344_1881-5327dupTTTTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(14): Show 
TAAAAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0129
a0001c0001t0002g0125
a0001c0001t0002g0127
a0001c0001t0002g0129
 3 HG02257.hp2
HG02572.hp2
NA19030.hp1
HG02257.hp2
HG02572.hp2
NA19030.hp1
 intron_variant MODIFIER c.1881-5347_1881-532
others(25): Show 
c.1881-5347_1881-5327dupTTTTTTTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(19): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0130
a0001c0001t0002g0130
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1881-5352_1881-532
others(30): Show 
c.1881-5352_1881-5327dupTTTTTTTTTTTTTTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(20): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0131
a0001c0001t0002g0131
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1881-5353_1881-532
others(31): Show 
c.1881-5353_1881-5327dupTTTTTTTTTTTTTTTTTTTTTTTTTT
T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 T
T
 TAAAAAAA
others(29): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0126
a0001c0001t0002g0126
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1881-5327_1881-532
others(40): Show 
c.1881-5327_1881-5326insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TA
TA
 T
T
 37 a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0196
others(34): Show 
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0237
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0279
a0001c0001t0010g0195
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0012t0001g0239
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 50 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(47): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01167.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02280.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02895.hp2
HG02897.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18953.hp1
NA18954.hp1
NA18963.hp1
NA18965.hp1
NA18988.hp2
NA18990.hp2
NA18997.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-5327delT
c.1881-5327delT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAA
TAAAA
 T
T
 8 a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0003t0001g0145
others(5): Show 
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0243
a0001c0016t0001g0110
 8 HG01123.hp1
HG02559.hp1
HG02698.hp1
others(5): Show 
HG01123.hp1
HG02559.hp1
HG02698.hp1
HG03195.hp1
HG03491.hp2
NA18967.hp2
NA19004.hp1
NA19006.hp1
 intron_variant MODIFIER c.1881-5330_1881-532
others(8): Show 
c.1881-5330_1881-5327delTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAA
TAAAAA
 T
T
 21 a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0003t0001g0001
others(18): Show 
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0159
a0001c0003t0001g0264
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
 39 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(36): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.1881-5331_1881-532
others(9): Show 
c.1881-5331_1881-5327delTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAAAA
TAAAAAAA
 T
T
 14 a0001c0001t0002g0011
a0001c0001t0002g0026
a0001c0001t0002g0135
others(11): Show 
a0001c0001t0002g0011
a0001c0001t0002g0026
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0013g0052
a0004c0007t0001g0112
a0008c0013t0004g0044
a0009c0027t0004g0270
 19 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(16): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01258.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG04228.hp1
NA19043.hp1
 intron_variant MODIFIER c.1881-5333_1881-532
others(11): Show 
c.1881-5333_1881-5327delTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 T
T
 1 a0001c0026t0001g0269
a0001c0026t0001g0269
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1881-5336_1881-532
others(14): Show 
c.1881-5336_1881-5327delTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 T
T
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1881-5337_1881-532
others(15): Show 
c.1881-5337_1881-5327delTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 T
T
 6 a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
others(3): Show 
a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 6 HG01175.hp2
HG02698.hp2
HG02738.hp1
others(3): Show 
HG01175.hp2
HG02698.hp2
HG02738.hp1
HG03942.hp2
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.1881-5338_1881-532
others(16): Show 
c.1881-5338_1881-5327delTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632047 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1881-5339_1881-532
others(17): Show 
c.1881-5339_1881-5327delTTTTTTTTTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632047
chr5:157632072 A
A
 G
G
 1 a0001c0003t0001g0154
a0001c0003t0001g0154
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1881-5351T>C
c.1881-5351T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632072
chr5:157632143 C
C
 A
A
 1 a0001c0001t0012g0051
a0001c0001t0012g0051
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1881-5422G>T
c.1881-5422G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632143
chr5:157632162 T
T
 C
C
 1 a0001c0015t0001g0099
a0001c0015t0001g0099
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1881-5441A>G
c.1881-5441A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632162
chr5:157632190 C
C
 T
T
 28 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(25): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1881-5469G>A
c.1881-5469G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632190
chr5:157632348 C
C
 T
T
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1881-5627G>A
c.1881-5627G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632348
chr5:157632629 C
C
 T
T
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1880+5601G>A
c.1880+5601G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632629
chr5:157632762 G
G
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1880+5468C>T
c.1880+5468C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632762
chr5:157632813 G
G
 T
T
 1 a0001c0001t0008g0048
a0001c0001t0008g0048
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1880+5417C>A
c.1880+5417C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632813
chr5:157632826 C
C
 T
T
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1880+5404G>A
c.1880+5404G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632826
chr5:157632917 A
A
 G
G
 1 a0001c0002t0001g0067
a0001c0002t0001g0067
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1880+5313T>C
c.1880+5313T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632917
chr5:157632936 A
A
 T
T
 1 a0012c0023t0001g0234
a0012c0023t0001g0234
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1880+5294T>A
c.1880+5294T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157632936
chr5:157633300 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.1880+4930T>C
c.1880+4930T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633300
chr5:157633334 G
G
 C
C
 86 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(83): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 115 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(112): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1880+4896C>G
c.1880+4896C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633334
chr5:157633570 C
C
 T
T
 2 a0001c0002t0001g0076
a0001c0002t0001g0085
a0001c0002t0001g0076
a0001c0002t0001g0085
 2 NA18956.hp1
NA18980.hp1
NA18956.hp1
NA18980.hp1
 intron_variant MODIFIER c.1880+4660G>A
c.1880+4660G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633570
chr5:157633572 C
C
 A
A
 3 a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
 3 HG02109.hp1
HG02622.hp1
NA19030.hp2
HG02109.hp1
HG02622.hp1
NA19030.hp2
 intron_variant MODIFIER c.1880+4658G>T
c.1880+4658G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633572
chr5:157633624 T
T
 C
C
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1880+4606A>G
c.1880+4606A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633624
chr5:157633819 T
T
 C
C
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1880+4411A>G
c.1880+4411A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157633819
chr5:157634094 G
G
 C
C
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1880+4136C>G
c.1880+4136C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634094
chr5:157634157 G
G
 C
C
 27 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(24): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 40 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(37): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1880+4073C>G
c.1880+4073C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634157
chr5:157634479 AGT
AGT
 A
A
 161 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 214 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(211): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1880+3749_1880+375
others(6): Show 
c.1880+3749_1880+3750delAC
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634479
chr5:157634498 C
C
 T
T
 1 a0004c0007t0001g0112
a0004c0007t0001g0112
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1880+3732G>A
c.1880+3732G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634498
chr5:157634499 G
G
 A
A
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1880+3731C>T
c.1880+3731C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634499
chr5:157634742 A
A
 G
G
 161 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 214 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(211): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1880+3488T>C
c.1880+3488T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634742
chr5:157634772 C
C
 T
T
 1 a0009c0027t0004g0270
a0009c0027t0004g0270
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1880+3458G>A
c.1880+3458G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634772
chr5:157634900 G
G
 A
A
 23 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(20): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0002t0001g0100
 28 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(25): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1880+3330C>T
c.1880+3330C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634900
chr5:157634955 T
T
 C
C
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1880+3275A>G
c.1880+3275A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157634955
chr5:157635006 G
G
 T
T
 1 a0001c0002t0001g0109
a0001c0002t0001g0109
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1880+3224C>A
c.1880+3224C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635006
chr5:157635521 G
G
 A
A
 1 a0001c0002t0001g0104
a0001c0002t0001g0104
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1880+2709C>T
c.1880+2709C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635521
chr5:157635543 G
G
 C
C
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1880+2687C>G
c.1880+2687C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635543
chr5:157635628 A
A
 AAAAAAC
AAAAAAC
 22 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(19): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 41 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(38): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1880+2596_1880+260
others(10): Show 
c.1880+2596_1880+2601dupGTTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635628
chr5:157635628 A
A
 C
C
 1 a0001c0001t0001g0164
a0001c0001t0001g0164
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1880+2602T>G
c.1880+2602T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635628
chr5:157635691 G
G
 A
A
 2 a0001c0001t0002g0128
a0001c0001t0002g0132
a0001c0001t0002g0128
a0001c0001t0002g0132
 2 HG02145.hp1
HG02896.hp2
HG02145.hp1
HG02896.hp2
 intron_variant MODIFIER c.1880+2539C>T
c.1880+2539C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635691
chr5:157635709 A
A
 G
G
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1880+2521T>C
c.1880+2521T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635709
chr5:157635899 C
C
 T
T
 1 a0001c0006t0001g0062
a0001c0006t0001g0062
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1880+2331G>A
c.1880+2331G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157635899
chr5:157636050 A
A
 C
C
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1880+2180T>G
c.1880+2180T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636050
chr5:157636186 T
T
 C
C
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1880+2044A>G
c.1880+2044A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636186
chr5:157636251 T
T
 C
C
 6 a0002c0004t0001g0018
a0002c0004t0001g0041
a0002c0004t0001g0246
others(3): Show 
a0002c0004t0001g0018
a0002c0004t0001g0041
a0002c0004t0001g0246
a0002c0004t0001g0253
a0010c0019t0001g0254
a0016c0014t0001g0064
 9 HG00544.hp2
HG01952.hp2
HG01975.hp1
others(6): Show 
HG00544.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
NA18939.hp2
NA18988.hp2
NA19009.hp2
NA19010.hp1
NA19082.hp2
 intron_variant MODIFIER c.1880+1979A>G
c.1880+1979A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636251
chr5:157636372 T
T
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1880+1858A>T
c.1880+1858A>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636372
chr5:157636537 G
G
 GTATTCTA
others(13): Show 
GTATTCTACATAAAACAAAAA
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.1880+1692_1880+169
others(24): Show 
c.1880+1692_1880+1693insTTTTTGTTTTATGTAGAATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636537
chr5:157636632 G
G
 A
A
 1 a0001c0026t0001g0269
a0001c0026t0001g0269
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1880+1598C>T
c.1880+1598C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636632
chr5:157636703 G
G
 C
C
 3 a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 3 HG01943.hp2
HG01981.hp1
HG03225.hp2
HG01943.hp2
HG01981.hp1
HG03225.hp2
 intron_variant MODIFIER c.1880+1527C>G
c.1880+1527C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636703
chr5:157636850 G
G
 A
A
 1 a0014c0020t0014g0134
a0014c0020t0014g0134
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1880+1380C>T
c.1880+1380C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636850
chr5:157636936 T
T
 C
C
 2 a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0180
a0001c0001t0001g0181
 2 HG00280.hp1
HG01361.hp2
HG00280.hp1
HG01361.hp2
 intron_variant MODIFIER c.1880+1294A>G
c.1880+1294A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636936
chr5:157636969 A
A
 C
C
 1 a0001c0002t0001g0092
a0001c0002t0001g0092
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1880+1261T>G
c.1880+1261T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636969
chr5:157636977 A
A
 C
C
 7 a0001c0001t0001g0193
a0001c0002t0001g0109
a0004c0007t0001g0111
others(4): Show 
a0001c0001t0001g0193
a0001c0002t0001g0109
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 7 HG01943.hp2
HG01981.hp1
HG02109.hp2
others(4): Show 
HG01943.hp2
HG01981.hp1
HG02109.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG04199.hp1
 intron_variant MODIFIER c.1880+1253T>G
c.1880+1253T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636977
chr5:157636979 A
A
 G
G
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.1880+1251T>C
c.1880+1251T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157636979
chr5:157637002 G
G
 A
A
 1 a0001c0001t0001g0220
a0001c0001t0001g0220
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1880+1228C>T
c.1880+1228C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637002
chr5:157637065 G
G
 A
A
 1 a0016c0014t0001g0064
a0016c0014t0001g0064
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1880+1165C>T
c.1880+1165C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637065
chr5:157637133 C
C
 CA
CA
 70 a0001c0001t0001g0161
a0001c0001t0001g0168
a0001c0001t0001g0169
others(67): Show 
a0001c0001t0001g0161
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0189
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0228
a0001c0001t0001g0233
a0001c0001t0001g0235
a0001c0001t0001g0241
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0127
a0001c0001t0003g0045
a0001c0001t0003g0280
a0001c0001t0004g0261
a0001c0001t0004g0263
a0001c0001t0005g0259
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0024
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0105
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0003t0001g0143
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0243
a0001c0015t0001g0099
a0001c0024t0017g0281
a0003c0005t0003g0277
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0055
a0005c0008t0001g0056
 75 HG00140.hp2
HG00558.hp2
HG00621.hp1
others(72): Show 
HG00140.hp2
HG00558.hp2
HG00621.hp1
HG00673.hp1
HG00738.hp1
HG00741.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02109.hp2
HG02135.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03516.hp2
HG03579.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18906.hp1
NA18953.hp1
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18980.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA19004.hp1
NA19006.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1880+1096dupT
c.1880+1096dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637133
chr5:157637133 C
C
 CAA
CAA
 12 a0001c0001t0001g0118
a0001c0002t0001g0065
a0001c0002t0001g0070
others(9): Show 
a0001c0001t0001g0118
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0106
 12 HG01106.hp1
HG01891.hp2
HG02055.hp1
others(9): Show 
HG01106.hp1
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02717.hp2
HG03098.hp1
HG03516.hp1
NA18953.hp2
NA18980.hp1
NA18995.hp1
NA19000.hp2
NA20300.hp1
 intron_variant MODIFIER c.1880+1095_1880+109
others(6): Show 
c.1880+1095_1880+1096dupTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637133
chr5:157637133 C
C
 CAAA
CAAA
 18 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(15): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
 30 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(27): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18988.hp2
NA18990.hp2
NA19005.hp1
NA19009.hp2
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1880+1094_1880+109
others(7): Show 
c.1880+1094_1880+1096dupTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637133
chr5:157637133 C
C
 CAAAA
CAAAA
 8 a0001c0006t0001g0061
a0002c0004t0001g0042
a0002c0004t0001g0247
others(5): Show 
a0001c0006t0001g0061
a0002c0004t0001g0042
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0016c0014t0001g0064
 9 HG00609.hp1
HG02056.hp2
HG02083.hp1
others(6): Show 
HG00609.hp1
HG02056.hp2
HG02083.hp1
HG04115.hp1
NA18906.hp2
NA18963.hp1
NA19000.hp1
NA19010.hp1
NA19082.hp2
 intron_variant MODIFIER c.1880+1093_1880+109
others(8): Show 
c.1880+1093_1880+1096dupTTTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637133
chr5:157637133 CA
CA
 C
C
 18 a0001c0001t0001g0163
a0001c0001t0001g0173
a0001c0001t0001g0183
others(15): Show 
a0001c0001t0001g0163
a0001c0001t0001g0173
a0001c0001t0001g0183
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0011
a0001c0001t0002g0026
a0001c0001t0002g0128
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0003t0001g0027
a0001c0012t0001g0239
a0001c0012t0001g0240
a0001c0021t0001g0192
 23 HG00323.hp1
HG00597.hp1
HG00639.hp2
others(20): Show 
HG00323.hp1
HG00597.hp1
HG00639.hp2
HG00735.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02027.hp2
HG02486.hp2
HG02896.hp2
HG03017.hp2
HG03098.hp2
HG03239.hp2
HG03490.hp2
HG04228.hp1
NA18973.hp1
NA18975.hp1
NA19043.hp1
NA19055.hp1
NA19055.hp2
 intron_variant MODIFIER c.1880+1096delT
c.1880+1096delT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637133
chr5:157637385 G
G
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1880+845C>T
c.1880+845C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637385
chr5:157637482 A
A
 G
G
 27 a0001c0001t0001g0189
a0001c0003t0001g0001
a0001c0003t0001g0027
others(24): Show 
a0001c0001t0001g0189
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0016t0001g0110
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
 45 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(42): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04184.hp1
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1880+748T>C
c.1880+748T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637482
chr5:157637490 C
C
 T
T
 85 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(82): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 114 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(111): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1880+740G>A
c.1880+740G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637490
chr5:157637492 T
T
 C
C
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1880+738A>G
c.1880+738A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637492
chr5:157637534 T
T
 A
A
 86 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(83): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 115 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(112): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1880+696A>T
c.1880+696A>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637534
chr5:157637659 T
T
 C
C
 1 a0001c0002t0001g0075
a0001c0002t0001g0075
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.1880+571A>G
c.1880+571A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157637659
chr5:157638046 C
C
 T
T
 161 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 214 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(211): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1880+184G>A
c.1880+184G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157638046
chr5:157638083 A
A
 G
G
 2 a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0187
a0001c0001t0001g0188
 2 HG01496.hp1
HG01952.hp1
HG01496.hp1
HG01952.hp1
 intron_variant MODIFIER c.1880+147T>C
c.1880+147T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157638083
chr5:157638119 TGAA
TGAA
 T
T
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1880+108_1880+110d
others(5): Show 
c.1880+108_1880+110delTTC
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 4/4 chr5 157638119
chr5:157638887 C
C
 T
T
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1388-165G>A
c.1388-165G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157638887
chr5:157638956 T
T
 C
C
 1 a0001c0001t0008g0048
a0001c0001t0008g0048
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1388-234A>G
c.1388-234A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157638956
chr5:157638999 T
T
 A
A
 1 a0001c0001t0003g0278
a0001c0001t0003g0278
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1388-277A>T
c.1388-277A>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157638999
chr5:157639038 C
C
 G
G
 1 a0001c0003t0001g0148
a0001c0003t0001g0148
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1388-316G>C
c.1388-316G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639038
chr5:157639058 T
T
 C
C
 1 a0001c0002t0001g0105
a0001c0002t0001g0105
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1388-336A>G
c.1388-336A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639058
chr5:157639082 T
T
 C
C
 1 a0001c0001t0001g0227
a0001c0001t0001g0227
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1388-360A>G
c.1388-360A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639082
chr5:157639165 T
T
 C
C
 1 a0002c0004t0001g0255
a0002c0004t0001g0255
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.1388-443A>G
c.1388-443A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639165
chr5:157639206 G
G
 T
T
 3 a0001c0001t0001g0032
a0001c0001t0001g0186
a0001c0001t0001g0232
a0001c0001t0001g0032
a0001c0001t0001g0186
a0001c0001t0001g0232
 4 HG01975.hp2
NA18961.hp2
NA18966.hp1
others(1): Show 
HG01975.hp2
NA18961.hp2
NA18966.hp1
NA20300.hp2
 intron_variant MODIFIER c.1388-484C>A
c.1388-484C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639206
chr5:157639242 C
C
 T
T
 2 a0001c0001t0001g0225
a0012c0023t0001g0234
a0001c0001t0001g0225
a0012c0023t0001g0234
 2 HG00741.hp2
NA18950.hp2
HG00741.hp2
NA18950.hp2
 intron_variant MODIFIER c.1388-520G>A
c.1388-520G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639242
chr5:157639463 C
C
 T
T
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1388-741G>A
c.1388-741G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639463
chr5:157639490 G
G
 C
C
 1 a0001c0001t0001g0231
a0001c0001t0001g0231
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.1388-768C>G
c.1388-768C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639490
chr5:157639547 G
G
 C
C
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1388-825C>G
c.1388-825C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639547
chr5:157639854 G
G
 A
A
 3 a0001c0001t0002g0011
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0011
a0001c0001t0002g0139
a0001c0001t0002g0140
 6 HG00639.hp2
HG00735.hp1
HG01081.hp1
others(3): Show 
HG00639.hp2
HG00735.hp1
HG01081.hp1
HG01256.hp2
HG01258.hp1
HG03017.hp2
 intron_variant MODIFIER c.1388-1132C>T
c.1388-1132C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157639854
chr5:157640022 T
T
 C
C
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1388-1300A>G
c.1388-1300A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640022
chr5:157640407 G
G
 A
A
 63 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(60): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 81 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1388-1685C>T
c.1388-1685C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640407
chr5:157640430 C
C
 T
T
 2 a0001c0003t0001g0027
a0001c0003t0001g0147
a0001c0003t0001g0027
a0001c0003t0001g0147
 3 HG02027.hp2
NA18973.hp1
NA19084.hp2
HG02027.hp2
NA18973.hp1
NA19084.hp2
 intron_variant MODIFIER c.1388-1708G>A
c.1388-1708G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640430
chr5:157640483 G
G
 A
A
 161 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 214 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(211): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1388-1761C>T
c.1388-1761C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640483
chr5:157640501 G
G
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1388-1779C>G
c.1388-1779C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640501
chr5:157640742 A
A
 C
C
 3 a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0146
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0146
 3 HG03490.hp1
HG03492.hp1
HG04199.hp2
HG03490.hp1
HG03492.hp1
HG04199.hp2
 intron_variant MODIFIER c.1388-2020T>G
c.1388-2020T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640742
chr5:157640819 C
C
 T
T
 34 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(31): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 39 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(36): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp1
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp2
HG02738.hp1
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03579.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.1388-2097G>A
c.1388-2097G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157640819
chr5:157641131 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1388-2409C>T
c.1388-2409C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641131
chr5:157641469 C
C
 T
T
 6 a0001c0001t0001g0031
a0001c0001t0001g0183
a0001c0001t0001g0184
others(3): Show 
a0001c0001t0001g0031
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0233
a0001c0001t0001g0236
 7 HG00673.hp1
NA18940.hp2
NA18965.hp1
others(4): Show 
HG00673.hp1
NA18940.hp2
NA18965.hp1
NA18979.hp2
NA19055.hp1
NA19078.hp2
NA19091.hp2
 intron_variant MODIFIER c.1388-2747G>A
c.1388-2747G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641469
chr5:157641524 A
A
 G
G
 3 a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
 3 HG00558.hp2
NA18960.hp1
NA19070.hp2
HG00558.hp2
NA18960.hp1
NA19070.hp2
 intron_variant MODIFIER c.1388-2802T>C
c.1388-2802T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641524
chr5:157641602 G
G
 T
T
 6 a0001c0001t0001g0016
a0001c0001t0001g0175
a0001c0001t0001g0176
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
 8 HG00738.hp2
HG01070.hp1
HG01071.hp1
others(5): Show 
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01433.hp2
HG01515.hp2
HG02738.hp2
HG04184.hp2
 intron_variant MODIFIER c.1388-2880C>A
c.1388-2880C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641602
chr5:157641724 A
A
 G
G
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.1388-3002T>C
c.1388-3002T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641724
chr5:157641744 A
A
 G
G
 14 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(11): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0005g0010
a0001c0001t0005g0259
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
 24 HG01243.hp1
HG02055.hp2
HG02109.hp1
others(21): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1388-3022T>C
c.1388-3022T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641744
chr5:157641752 T
T
 C
C
 2 a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0004g0262
a0001c0001t0004g0263
 2 NA19240.hp2
NA20129.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1388-3030A>G
c.1388-3030A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641752
chr5:157641911 C
C
 T
T
 6 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(3): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0063
 6 HG01243.hp2
HG02630.hp1
HG02895.hp2
others(3): Show 
HG01243.hp2
HG02630.hp1
HG02895.hp2
HG03130.hp2
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.1388-3189G>A
c.1388-3189G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641911
chr5:157641981 G
G
 A
A
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1388-3259C>T
c.1388-3259C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157641981
chr5:157642028 C
C
 A
A
 2 a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0226
a0001c0001t0001g0227
 2 NA18957.hp2
NA18963.hp2
NA18957.hp2
NA18963.hp2
 intron_variant MODIFIER c.1388-3306G>T
c.1388-3306G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642028
chr5:157642073 C
C
 T
T
 48 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0016t0001g0110
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
a0015c0017t0001g0116
 85 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(82): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00621.hp2
HG00673.hp2
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp2
HG02027.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02155.hp2
HG02523.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG04199.hp2
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19004.hp1
NA19006.hp1
NA19007.hp1
NA19010.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp1
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1388-3351G>A
c.1388-3351G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642073
chr5:157642087 G
G
 A
A
 1 a0001c0001t0001g0228
a0001c0001t0001g0228
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1388-3365C>T
c.1388-3365C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642087
chr5:157642315 CA
CA
 C
C
 112 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(109): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0072
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 160 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(157): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19078.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1388-3594delT
c.1388-3594delT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642315
chr5:157642335 A
A
 C
C
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1388-3613T>G
c.1388-3613T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642335
chr5:157642341 G
G
 C
C
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1388-3619C>G
c.1388-3619C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642341
chr5:157642349 GC
GC
 G
G
 2 a0008c0013t0004g0044
a0009c0027t0004g0270
a0008c0013t0004g0044
a0009c0027t0004g0270
 3 HG01069.hp2
HG01071.hp2
HG02723.hp2
HG01069.hp2
HG01071.hp2
HG02723.hp2
 intron_variant MODIFIER c.1388-3628delG
c.1388-3628delG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642349
chr5:157642351 C
C
 A
A
 2 a0008c0013t0004g0044
a0009c0027t0004g0270
a0008c0013t0004g0044
a0009c0027t0004g0270
 3 HG01069.hp2
HG01071.hp2
HG02723.hp2
HG01069.hp2
HG01071.hp2
HG02723.hp2
 intron_variant MODIFIER c.1388-3629G>T
c.1388-3629G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642351
chr5:157642405 A
A
 G
G
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1388-3683T>C
c.1388-3683T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642405
chr5:157642468 C
C
 G
G
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1388-3746G>C
c.1388-3746G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642468
chr5:157642788 C
C
 T
T
 62 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(59): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 80 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(77): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1387+3849G>A
c.1387+3849G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642788
chr5:157642807 A
A
 G
G
 20 a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
others(17): Show 
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 33 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(30): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1387+3830T>C
c.1387+3830T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642807
chr5:157642986 A
A
 C
C
 2 a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0120
a0001c0001t0001g0121
 2 HG02258.hp1
HG03540.hp2
HG02258.hp1
HG03540.hp2
 intron_variant MODIFIER c.1387+3651T>G
c.1387+3651T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642986
chr5:157642992 T
T
 C
C
 1 a0001c0001t0003g0279
a0001c0001t0003g0279
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1387+3645A>G
c.1387+3645A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157642992
chr5:157643101 G
G
 GACA
GACA
 17 a0001c0001t0002g0140
a0002c0004t0001g0009
a0002c0004t0001g0018
others(14): Show 
a0001c0001t0002g0140
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 26 HG00544.hp2
HG00609.hp1
HG01081.hp1
others(23): Show 
HG00544.hp2
HG00609.hp1
HG01081.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18939.hp2
NA18945.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19088.hp1
 intron_variant MODIFIER c.1387+3533_1387+353
others(7): Show 
c.1387+3533_1387+3535dupTGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643101
chr5:157643101 G
G
 GACAACA
GACAACA
 9 a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0006t0001g0057
others(6): Show 
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
 9 HG01243.hp2
HG02280.hp1
HG02451.hp2
others(6): Show 
HG01243.hp2
HG02280.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02895.hp2
HG03130.hp2
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.1387+3530_1387+353
others(10): Show 
c.1387+3530_1387+3535dupTGTTGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643101
chr5:157643101 GACA
GACA
 G
G
 22 a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
others(19): Show 
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0002t0001g0014
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
 24 HG00558.hp2
HG00621.hp1
HG02135.hp1
others(21): Show 
HG00558.hp2
HG00621.hp1
HG02135.hp1
HG02257.hp2
HG02572.hp2
HG03540.hp1
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
 intron_variant MODIFIER c.1387+3533_1387+353
others(7): Show 
c.1387+3533_1387+3535delTGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643101
chr5:157643228 C
C
 A
A
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1387+3409G>T
c.1387+3409G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643228
chr5:157643375 G
G
 A
A
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1387+3262C>T
c.1387+3262C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643375
chr5:157643426 A
A
 G
G
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1387+3211T>C
c.1387+3211T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643426
chr5:157643450 A
A
 T
T
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1387+3187T>A
c.1387+3187T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643450
chr5:157643538 A
A
 C
C
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1387+3099T>G
c.1387+3099T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643538
chr5:157643736 C
C
 A
A
 29 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(26): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 42 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(39): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02818.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1387+2901G>T
c.1387+2901G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643736
chr5:157643938 A
A
 G
G
 2 a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0144
a0001c0003t0001g0145
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1387+2699T>C
c.1387+2699T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643938
chr5:157643973 C
C
 T
T
 63 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(60): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 81 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1387+2664G>A
c.1387+2664G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643973
chr5:157643990 A
A
 C
C
 63 a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
others(60): Show 
a0001c0001t0001g0118
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0024t0017g0281
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0016c0014t0001g0064
 81 HG00099.hp1
HG00323.hp1
HG00408.hp1
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1387+2647T>G
c.1387+2647T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157643990
chr5:157644127 TTC
TTC
 T
T
 9 a0001c0001t0001g0016
a0001c0001t0001g0175
a0001c0001t0001g0176
others(6): Show 
a0001c0001t0001g0016
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0244
 11 HG00280.hp1
HG00738.hp2
HG01070.hp1
others(8): Show 
HG00280.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG02280.hp2
HG02738.hp2
HG04184.hp2
 intron_variant MODIFIER c.1387+2508_1387+250
others(6): Show 
c.1387+2508_1387+2509delGA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644127
chr5:157644133 G
G
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0001g0161
a0001c0001t0001g0162
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0171
 8 HG00423.hp1
HG02074.hp1
NA18612.hp1
others(5): Show 
HG00423.hp1
HG02074.hp1
NA18612.hp1
NA18951.hp1
NA18952.hp1
NA18987.hp2
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.1387+2504C>A
c.1387+2504C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644133
chr5:157644187 G
G
 A
A
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1387+2450C>T
c.1387+2450C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644187
chr5:157644266 T
T
 C
C
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1387+2371A>G
c.1387+2371A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644266
chr5:157644374 A
A
 C
C
 6 a0001c0002t0001g0022
a0001c0002t0001g0068
a0001c0002t0001g0069
others(3): Show 
a0001c0002t0001g0022
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0107
 7 HG01884.hp2
HG01891.hp2
HG02258.hp2
others(4): Show 
HG01884.hp2
HG01891.hp2
HG02258.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03579.hp2
 intron_variant MODIFIER c.1387+2263T>G
c.1387+2263T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644374
chr5:157644785 A
A
 T
T
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1387+1852T>A
c.1387+1852T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644785
chr5:157644922 A
A
 G
G
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1387+1715T>C
c.1387+1715T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157644922
chr5:157645087 A
A
 G
G
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1387+1550T>C
c.1387+1550T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645087
chr5:157645112 A
A
 C
C
 1 a0014c0020t0014g0134
a0014c0020t0014g0134
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1387+1525T>G
c.1387+1525T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645112
chr5:157645212 A
A
 AAAC
AAAC
 4 a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
others(1): Show 
a0001c0001t0002g0025
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
 5 HG01070.hp2
HG01167.hp2
HG01169.hp1
others(2): Show 
HG01070.hp2
HG01167.hp2
HG01169.hp1
HG02622.hp2
NA18906.hp1
 intron_variant MODIFIER c.1387+1422_1387+142
others(7): Show 
c.1387+1422_1387+1424dupGTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645212
chr5:157645328 T
T
 C
C
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1387+1309A>G
c.1387+1309A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645328
chr5:157645353 T
T
 C
C
 1 a0002c0004t0001g0256
a0002c0004t0001g0256
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1387+1284A>G
c.1387+1284A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645353
chr5:157645369 G
G
 A
A
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1387+1268C>T
c.1387+1268C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645369
chr5:157645443 C
C
 G
G
 6 a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
others(3): Show 
a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 6 HG01175.hp2
HG02698.hp2
HG02738.hp1
others(3): Show 
HG01175.hp2
HG02698.hp2
HG02738.hp1
HG03942.hp2
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.1387+1194G>C
c.1387+1194G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645443
chr5:157645461 G
G
 A
A
 1 a0001c0002t0001g0109
a0001c0002t0001g0109
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1387+1176C>T
c.1387+1176C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645461
chr5:157645618 T
T
 C
C
 28 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(25): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 41 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(38): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1387+1019A>G
c.1387+1019A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645618
chr5:157645662 G
G
 GA
GA
 31 a0001c0001t0001g0160
a0001c0001t0001g0230
a0001c0001t0001g0231
others(28): Show 
a0001c0001t0001g0160
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0014c0020t0014g0134
a0016c0014t0001g0064
 44 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(41): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02970.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19072.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1387+974dupT
c.1387+974dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645662
chr5:157645717 G
G
 A
A
 1 a0001c0001t0001g0232
a0001c0001t0001g0232
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1387+920C>T
c.1387+920C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645717
chr5:157645746 C
C
 T
T
 2 a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0142
a0001c0003t0001g0143
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1387+891G>A
c.1387+891G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645746
chr5:157645756 C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.1387+881G>A
c.1387+881G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645756
chr5:157645785 C
C
 T
T
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1387+852G>A
c.1387+852G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645785
chr5:157645791 C
C
 T
T
 23 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0007g0020
a0001c0001t0007g0050
a0015c0017t0001g0116
 42 HG00423.hp1
HG00735.hp2
HG01069.hp1
others(39): Show 
HG00423.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01934.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02523.hp2
HG03491.hp1
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1387+846G>A
c.1387+846G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645791
chr5:157645810 C
C
 T
T
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1387+827G>A
c.1387+827G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645810
chr5:157645876 C
C
 T
T
 1 a0001c0002t0001g0067
a0001c0002t0001g0067
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1387+761G>A
c.1387+761G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157645876
chr5:157646006 G
G
 A
A
 1 a0001c0003t0001g0159
a0001c0003t0001g0159
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1387+631C>T
c.1387+631C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646006
chr5:157646012 T
T
 G
G
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1387+625A>C
c.1387+625A>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646012
chr5:157646019 C
C
 CA
CA
 96 a0001c0001t0001g0038
a0001c0001t0001g0118
a0001c0001t0001g0120
others(93): Show 
a0001c0001t0001g0038
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0161
a0001c0001t0001g0233
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0244
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0012g0051
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0013c0022t0001g0258
a0014c0020t0014g0134
 107 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(104): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19070.hp1
NA19070.hp2
NA19078.hp1
NA19078.hp2
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1387+617dupT
c.1387+617dupT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646019
chr5:157646019 C
C
 CAA
CAA
 65 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(62): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0015c0017t0001g0116
a0016c0014t0001g0064
 108 HG00408.hp1
HG00423.hp1
HG00544.hp2
others(105): Show 
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01099.hp1
HG01109.hp2
HG01192.hp2
HG01243.hp1
HG01361.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03516.hp2
HG03654.hp2
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18975.hp2
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1387+616_1387+617d
others(4): Show 
c.1387+616_1387+617dupTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646019
chr5:157646164 A
A
 G
G
 1 a0013c0022t0001g0258
a0013c0022t0001g0258
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1387+473T>C
c.1387+473T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646164
chr5:157646203 A
A
 G
G
 20 a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
others(17): Show 
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 33 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(30): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1387+434T>C
c.1387+434T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646203
chr5:157646205 T
T
 C
C
 1 a0001c0002t0001g0106
a0001c0002t0001g0106
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1387+432A>G
c.1387+432A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646205
chr5:157646239 C
C
 T
T
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1387+398G>A
c.1387+398G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646239
chr5:157646245 A
A
 T
T
 1 a0002c0004t0001g0245
a0002c0004t0001g0245
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.1387+392T>A
c.1387+392T>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646245
chr5:157646318 A
A
 G
G
 1 a0008c0013t0004g0044
a0008c0013t0004g0044
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.1387+319T>C
c.1387+319T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646318
chr5:157646441 A
A
 G
G
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1387+196T>C
c.1387+196T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646441
chr5:157646529 CATT
CATT
 C
C
 6 a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
others(3): Show 
a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 6 HG01175.hp2
HG02698.hp2
HG02738.hp1
others(3): Show 
HG01175.hp2
HG02698.hp2
HG02738.hp1
HG03942.hp2
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.1387+105_1387+107d
others(5): Show 
c.1387+105_1387+107delAAT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 3/4 chr5 157646529
chr5:157646939 T
T
 C
C
 22 a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
others(19): Show 
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 27 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(24): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02896.hp2
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1208-123A>G
c.1208-123A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157646939
chr5:157647061 AT
AT
 A
A
 147 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(144): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0235
a0001c0001t0001g0238
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0011t0001g0021
a0001c0015t0001g0099
a0001c0024t0017g0281
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0015c0017t0001g0116
a0016c0014t0001g0064
 201 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(198): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18973.hp2
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19078.hp1
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1208-246delA
c.1208-246delA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647061
chr5:157647061 ATT
ATT
 A
A
 14 a0001c0001t0001g0030
a0001c0001t0001g0171
a0001c0001t0002g0141
others(11): Show 
a0001c0001t0001g0030
a0001c0001t0001g0171
a0001c0001t0002g0141
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0257
a0014c0020t0014g0134
 15 HG01243.hp2
HG02451.hp2
HG02630.hp1
others(12): Show 
HG01243.hp2
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03130.hp2
HG03486.hp1
NA18906.hp2
NA18948.hp1
NA19010.hp2
NA19043.hp1
NA19068.hp1
NA19081.hp2
 intron_variant MODIFIER c.1208-247_1208-246d
others(4): Show 
c.1208-247_1208-246delAA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647061
chr5:157647148 G
G
 A
A
 27 a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
others(24): Show 
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 40 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(37): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01243.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02451.hp2
HG02630.hp1
HG02895.hp2
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.1208-332C>T
c.1208-332C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647148
chr5:157647221 C
C
 G
G
 1 a0004c0007t0001g0111
a0004c0007t0001g0111
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1208-405G>C
c.1208-405G>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647221
chr5:157647263 G
G
 A
A
 1 a0001c0002t0001g0109
a0001c0002t0001g0109
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1208-447C>T
c.1208-447C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647263
chr5:157647294 C
C
 A
A
 9 a0001c0001t0002g0011
a0001c0001t0002g0026
a0001c0001t0002g0135
others(6): Show 
a0001c0001t0002g0011
a0001c0001t0002g0026
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
 13 HG00099.hp1
HG00323.hp1
HG00639.hp2
others(10): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp2
HG00735.hp1
HG01081.hp1
HG01099.hp2
HG01256.hp2
HG01258.hp1
HG01891.hp1
HG02486.hp2
HG03017.hp2
HG04228.hp1
NA19043.hp1
 intron_variant MODIFIER c.1208-478G>T
c.1208-478G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647294
chr5:157647342 G
G
 C
C
 2 a0001c0001t0003g0045
a0001c0001t0003g0280
a0001c0001t0003g0045
a0001c0001t0003g0280
 3 HG03195.hp2
HG03225.hp1
NA20129.hp1
HG03195.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.1208-526C>G
c.1208-526C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647342
chr5:157647365 T
T
 C
C
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1208-549A>G
c.1208-549A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647365
chr5:157647424 G
G
 A
A
 1 a0001c0026t0001g0269
a0001c0026t0001g0269
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1208-608C>T
c.1208-608C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647424
chr5:157647430 T
T
 C
C
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.1208-614A>G
c.1208-614A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647430
chr5:157647470 CCTCA
CCTCA
 C
C
 49 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(46): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
 54 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1208-658_1208-655d
others(6): Show 
c.1208-658_1208-655delTGAG
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647470
chr5:157647474 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1208-658T>C
c.1208-658T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647474
chr5:157647567 T
T
 C
C
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1208-751A>G
c.1208-751A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647567
chr5:157647596 C
C
 A
A
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1208-780G>T
c.1208-780G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647596
chr5:157647667 G
G
 T
T
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.1208-851C>A
c.1208-851C>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647667
chr5:157647693 T
T
 C
C
 25 a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
others(22): Show 
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0025t0001g0268
a0007c0010t0001g0043
a0007c0010t0001g0267
 43 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(40): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01168.hp2
HG01192.hp1
HG01257.hp1
HG01515.hp1
HG01517.hp2
HG02027.hp2
HG02155.hp2
HG02698.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03927.hp2
HG04199.hp2
NA18946.hp2
NA18949.hp2
NA18950.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp1
NA18973.hp1
NA18979.hp1
NA18980.hp2
NA18990.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA19004.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.1208-877A>G
c.1208-877A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647693
chr5:157647849 G
G
 A
A
 1 a0015c0017t0001g0116
a0015c0017t0001g0116
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1207+808C>T
c.1207+808C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157647849
chr5:157648210 G
G
 A
A
 1 a0001c0001t0001g0237
a0001c0001t0001g0237
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.1207+447C>T
c.1207+447C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157648210
chr5:157648307 C
C
 T
T
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1207+350G>A
c.1207+350G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157648307
chr5:157648426 G
G
 C
C
 1 a0001c0001t0001g0238
a0001c0001t0001g0238
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1207+231C>G
c.1207+231C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157648426
chr5:157648437 G
G
 C
C
 110 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(107): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0012g0051
a0001c0001t0013g0052
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
a0001c0016t0001g0110
a0001c0024t0017g0281
a0001c0026t0001g0269
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0008c0013t0004g0044
a0009c0027t0004g0270
a0013c0022t0001g0258
a0015c0017t0001g0116
 145 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(142): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18975.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18991.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp2
NA19007.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19078.hp1
NA19081.hp2
NA19087.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1207+220C>G
c.1207+220C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 2/4 chr5 157648437
chr5:157648922 A
A
 C
C
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.968-26T>G
c.968-26T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648922
chr5:157648935 T
T
 TAC
TAC
 3 a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0241
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0241
 5 NA18968.hp1
NA18988.hp1
NA19004.hp2
others(2): Show 
NA18968.hp1
NA18988.hp1
NA19004.hp2
NA19070.hp1
NA19087.hp1
 intron_variant MODIFIER c.968-41_968-40dupGT
c.968-41_968-40dupGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648935
chr5:157648935 TAC
TAC
 T
T
 164 a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
others(161): Show 
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0011
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0007g0020
a0001c0001t0007g0050
a0001c0001t0012g0051
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0003t0001g0001
a0001c0003t0001g0027
a0001c0003t0001g0142
a0001c0003t0001g0143
a0001c0003t0001g0144
a0001c0003t0001g0145
a0001c0003t0001g0146
a0001c0003t0001g0147
a0001c0003t0001g0148
a0001c0003t0001g0149
a0001c0003t0001g0150
a0001c0003t0001g0151
a0001c0003t0001g0152
a0001c0003t0001g0153
a0001c0003t0001g0154
a0001c0003t0001g0155
a0001c0003t0001g0156
a0001c0003t0001g0157
a0001c0003t0001g0158
a0001c0003t0001g0159
a0001c0003t0001g0243
a0001c0003t0001g0264
a0001c0006t0001g0057
a0001c0006t0001g0058
a0001c0006t0001g0059
a0001c0006t0001g0060
a0001c0006t0001g0061
a0001c0006t0001g0062
a0001c0006t0001g0063
a0001c0015t0001g0099
a0001c0016t0001g0110
a0001c0024t0017g0281
a0001c0025t0001g0268
a0001c0026t0001g0269
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0007c0010t0001g0043
a0007c0010t0001g0267
a0010c0019t0001g0254
a0011c0018t0001g0249
a0013c0022t0001g0258
a0014c0020t0014g0134
a0015c0017t0001g0116
a0016c0014t0001g0064
 224 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(221): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18972.hp1
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18993.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19072.hp1
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.968-41_968-40delGT
c.968-41_968-40delGT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648935
chr5:157648951 CAA
CAA
 C
C
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.968-57_968-56delTT
c.968-57_968-56delTT
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648951
chr5:157648976 G
G
 A
A
 1 a0001c0026t0001g0269
a0001c0026t0001g0269
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.968-80C>T
c.968-80C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648976
chr5:157648977 T
T
 C
C
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.968-81A>G
c.968-81A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157648977
chr5:157649345 A
A
 C
C
 12 a0001c0001t0001g0118
a0001c0001t0012g0051
a0004c0007t0001g0111
others(9): Show 
a0001c0001t0001g0118
a0001c0001t0012g0051
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 12 HG01175.hp2
HG01943.hp2
HG01981.hp1
others(9): Show 
HG01175.hp2
HG01943.hp2
HG01981.hp1
HG02055.hp1
HG02698.hp2
HG02738.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03942.hp2
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.968-449T>G
c.968-449T>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649345
chr5:157649517 C
C
 T
T
 1 a0001c0001t0001g0119
a0001c0001t0001g0119
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.968-621G>A
c.968-621G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649517
chr5:157649657 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 2 HG02080.hp1
NA18968.hp2
HG02080.hp1
NA18968.hp2
 intron_variant MODIFIER c.968-761C>T
c.968-761C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649657
chr5:157649733 C
C
 T
T
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.968-837G>A
c.968-837G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649733
chr5:157649747 G
G
 A
A
 1 a0001c0024t0017g0281
a0001c0024t0017g0281
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.968-851C>T
c.968-851C>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649747
chr5:157649877 T
T
 C
C
 1 a0001c0006t0001g0063
a0001c0006t0001g0063
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.968-981A>G
c.968-981A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649877
chr5:157649986 C
C
 T
T
 14 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(11): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0005g0010
a0001c0001t0005g0259
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
 24 HG01243.hp1
HG02055.hp2
HG02109.hp1
others(21): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.968-1090G>A
c.968-1090G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157649986
chr5:157650054 G
G
 C
C
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.967+1058C>G
c.967+1058C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650054
chr5:157650103 C
C
 A
A
 1 a0001c0003t0001g0243
a0001c0003t0001g0243
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.967+1009G>T
c.967+1009G>T
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650103
chr5:157650145 TTATTA
TTATTA
 T
T
 5 a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
others(2): Show 
a0004c0007t0001g0111
a0004c0007t0001g0112
a0004c0007t0001g0113
a0004c0007t0001g0114
a0004c0007t0001g0115
 5 HG01943.hp2
HG01981.hp1
HG03225.hp2
others(2): Show 
HG01943.hp2
HG01981.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.967+962_967+966del
others(5): Show 
c.967+962_967+966delTAATA
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650145
chr5:157650183 T
T
 C
C
 50 a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
others(47): Show 
a0001c0002t0001g0014
a0001c0002t0001g0022
a0001c0002t0001g0023
a0001c0002t0001g0024
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0081
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0093
a0001c0002t0001g0094
a0001c0002t0001g0096
a0001c0002t0001g0097
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0101
a0001c0002t0001g0102
a0001c0002t0001g0103
a0001c0002t0001g0104
a0001c0002t0001g0105
a0001c0002t0001g0106
a0001c0002t0001g0107
a0001c0002t0001g0108
a0001c0002t0001g0109
a0001c0002t0016g0095
a0001c0015t0001g0099
a0001c0016t0001g0110
 55 HG00140.hp2
HG00280.hp2
HG00558.hp2
others(52): Show 
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18972.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18991.hp2
NA18995.hp1
NA19000.hp2
NA19043.hp2
NA19063.hp1
NA19070.hp2
NA19078.hp1
NA19087.hp2
NA19090.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.967+929A>G
c.967+929A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650183
chr5:157650202 A
A
 G
G
 2 a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0271
a0001c0001t0003g0272
 2 HG02280.hp1
HG02630.hp2
HG02280.hp1
HG02630.hp2
 intron_variant MODIFIER c.967+910T>C
c.967+910T>C
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650202
chr5:157650309 G
G
 C
C
 1 a0001c0001t0001g0244
a0001c0001t0001g0244
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.967+803C>G
c.967+803C>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650309
chr5:157650519 T
T
 C
C
 20 a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
others(17): Show 
a0002c0004t0001g0008
a0002c0004t0001g0009
a0002c0004t0001g0018
a0002c0004t0001g0040
a0002c0004t0001g0041
a0002c0004t0001g0042
a0002c0004t0001g0245
a0002c0004t0001g0246
a0002c0004t0001g0247
a0002c0004t0001g0248
a0002c0004t0001g0250
a0002c0004t0001g0251
a0002c0004t0001g0252
a0002c0004t0001g0253
a0002c0004t0001g0255
a0002c0004t0001g0256
a0002c0004t0001g0257
a0010c0019t0001g0254
a0011c0018t0001g0249
a0016c0014t0001g0064
 33 HG00408.hp1
HG00544.hp2
HG00597.hp2
others(30): Show 
HG00408.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG03239.hp1
HG03654.hp2
HG04115.hp1
HG04204.hp2
NA18747.hp1
NA18939.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18963.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19062.hp2
NA19065.hp2
NA19080.hp1
NA19082.hp2
NA19083.hp1
NA19088.hp1
 intron_variant MODIFIER c.967+593A>G
c.967+593A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650519
chr5:157650625 T
T
 C
C
 6 a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
others(3): Show 
a0001c0001t0012g0051
a0005c0008t0001g0053
a0005c0008t0001g0054
a0005c0008t0001g0055
a0005c0008t0001g0056
a0013c0022t0001g0258
 6 HG01175.hp2
HG02698.hp2
HG02738.hp1
others(3): Show 
HG01175.hp2
HG02698.hp2
HG02738.hp1
HG03942.hp2
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.967+487A>G
c.967+487A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650625
chr5:157650752 T
T
 C
C
 23 a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
others(20): Show 
a0001c0001t0003g0045
a0001c0001t0003g0271
a0001c0001t0003g0272
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0278
a0001c0001t0003g0279
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0004g0261
a0001c0001t0004g0262
a0001c0001t0004g0263
a0001c0001t0005g0010
a0001c0001t0005g0259
a0001c0001t0008g0047
a0001c0001t0008g0048
a0001c0001t0013g0052
a0003c0005t0003g0005
a0003c0005t0003g0275
a0003c0005t0003g0276
a0003c0005t0003g0277
a0008c0013t0004g0044
a0009c0027t0004g0270
 34 HG01069.hp2
HG01071.hp2
HG01109.hp2
others(31): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.967+360A>G
c.967+360A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650752
chr5:157650806 T
T
 C
C
 1 a0001c0003t0001g0264
a0001c0003t0001g0264
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.967+306A>G
c.967+306A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650806
chr5:157650912 C
C
 T
T
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.967+200G>A
c.967+200G>A
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157650912
chr5:157651012 T
T
 C
C
 1 a0001c0001t0001g0266
a0001c0001t0001g0266
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.967+100A>G
c.967+100A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157651012
chr5:157651018 T
T
 C
C
 2 a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0265
a0001c0001t0001g0266
 2 HG01884.hp1
HG03453.hp1
HG01884.hp1
HG03453.hp1
 intron_variant MODIFIER c.967+94A>G
c.967+94A>G
SOX30 ENSG00000039600.11 transcript ENST00000265007.11 protein_coding 1/4 chr5 157651018

  • 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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