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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SKI_chr1_2223319_2315213  SKI_chr1_2223319_2315213 (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 6497
ensemblid ENSG00000157933.11
hgncid 10896
symbol SKI
name SKI proto-oncogene
refseq_nuc NM_003036.4
refseq_prot NP_003027.1
ensembl_nuc ENST00000378536.5
ensembl_prot ENSP00000367797.4
mane_status MANE Select
chr chr1
start 2228319
end 2310213
strand +
ver v1.2
region chr1:2228319-2310213
region5000 chr1:2223319-2315213
regionname0 SKI_chr1_2228319_2310213
regionname5000 SKI_chr1_2223319_2315213

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 728 316 83 51 126 13 41 98 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002 0/0 728 13 5 5 0 1 2 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0003 0/0 722 1 0 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2187 300 71 50 123 13 41 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0002 0/0 2187 9 4 4 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0003 0/0 2187 7 7 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0004 0/0 2187 3 1 1 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0005 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0006 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0007 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0008 0/0 2187 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0009 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0010 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0011 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0012 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0013 0/0 2169 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0014 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
c0015 0/0 2187 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3900 47 12 7 18 2 8 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0002 0/0 3898 39 12 6 13 5 3 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0003 0/0 3899 39 1 7 29 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0004 0/0 3899 24 2 1 16 2 3 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0005 0/0 3899 16 0 13 0 1 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0006 1/0 3897 12 0 2 2 2 5 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0007 0/0 3901 11 4 3 2 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0008 0/0 3897 11 0 0 11 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0009 0/0 3898 8 7 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0010 0/0 3899 7 2 1 4 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0011 0/0 3900 6 6 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0012 0/0 3901 6 1 2 3 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0013 0/0 3862 6 0 4 0 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0014 0/0 3900 4 2 1 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0015 0/0 3900 4 0 0 2 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0016 0/0 3985 3 3 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0017 0/0 3900 3 1 0 2 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0018 0/0 3900 3 0 0 2 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0019 0/0 3898 3 1 1 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0020 0/0 3898 3 3 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0021 0/0 3899 3 1 2 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0022 0/0 3900 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0023 0/0 3902 2 0 0 0 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0024 0/0 3899 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0025 0/0 3898 2 0 0 2 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0026 0/0 3900 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0027 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0028 0/0 4023 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0029 0/0 4024 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0030 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0031 0/0 3898 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0032 0/0 3900 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0033 0/0 3984 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0034 0/0 4023 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0035 0/0 3899 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0036 0/0 3900 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0037 0/0 3901 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0038 0/0 3900 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0039 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0040 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0041 0/0 3857 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0042 0/0 3919 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0043 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0044 0/0 3901 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0045 0/0 3899 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0046 0/0 3899 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0047 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0048 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0049 0/0 3942 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0050 0/0 3901 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0051 0/0 3899 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0052 0/0 3899 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0053 0/0 3943 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0054 0/0 3898 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0055 0/0 3900 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0056 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0057 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0058 0/0 3899 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0059 0/0 3902 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0060 0/0 3863 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0061 0/0 3900 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0062 0/0 3779 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0063 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0064 0/0 4011 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0065 0/0 4013 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0066 0/0 3898 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0067 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0068 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0069 0/0 3900 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0070 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0071 0/0 3897 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0072 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0073 0/0 3897 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0074 0/0 3897 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0075 0/0 3900 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0076 0/0 3901 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0077 0/0 3860 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0078 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0079 0/0 3901 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0080 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0081 0/0 3898 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0082 0/0 3899 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0083 0/1 3858 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0084 0/0 3897 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0085 0/0 3898 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0086 0/0 3898 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0087 0/0 3898 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
t0088 0/0 3899 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 0 0 2 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0002 0/0 2 0 2 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0003 0/0 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0004 0/0 2 0 0 0 0 2 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0005 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0006 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0007 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0008 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0009 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0010 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0011 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0012 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0013 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0014 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0015 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0016 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0017 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0018 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0019 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0020 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0021 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0022 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0023 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0024 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0025 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0026 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0027 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0028 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0029 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0030 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0031 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0032 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0033 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0034 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0035 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0036 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0037 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0038 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0039 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0040 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0041 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0042 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0043 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0044 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0045 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0046 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0047 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0048 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0049 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0050 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0051 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0052 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0053 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0054 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0055 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0056 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0057 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0058 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0059 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0060 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0061 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0062 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0063 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0064 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0065 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0066 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0067 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0068 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0069 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0070 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0071 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0072 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0073 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0074 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0075 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0076 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0077 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0078 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0079 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0080 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0081 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0082 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0083 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0084 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0085 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0086 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0087 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0088 1/0 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0089 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0090 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0091 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0092 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0093 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0094 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0095 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0096 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0097 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0098 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0099 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0100 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0101 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0102 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0103 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0104 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0105 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0106 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0107 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0108 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0109 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0110 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0111 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0112 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0113 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0114 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0115 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0116 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0117 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0118 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0119 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0120 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0121 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0122 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0123 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0124 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0125 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0126 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0127 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0128 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0129 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0130 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0131 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0132 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0133 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0134 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0135 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0136 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0137 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0138 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0139 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0140 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0141 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0142 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0143 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0144 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0145 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0146 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0147 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0148 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0149 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0150 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0151 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0152 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0153 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0154 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0155 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0156 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0157 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0158 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0159 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0160 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0161 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0162 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0163 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0164 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0165 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0166 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0167 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0168 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0169 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0170 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0171 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0172 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0173 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0174 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0175 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0176 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0177 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0178 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0179 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0180 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0181 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0182 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0183 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0184 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0185 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0186 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0187 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0188 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0189 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0190 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0191 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0192 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0193 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0194 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0195 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0196 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0197 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0198 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0199 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0200 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0201 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0202 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0203 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0204 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0205 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0206 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0207 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0208 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0209 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0210 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0211 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0212 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0213 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0214 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0215 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0216 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0217 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0218 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0219 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0220 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0221 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0222 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0223 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0224 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0225 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0226 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0227 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0228 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0229 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0230 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0231 0/1 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0232 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0233 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0234 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0235 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0236 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0237 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0238 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0239 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0240 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0241 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0242 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0243 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0244 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0245 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0246 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0247 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0248 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0249 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0250 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0251 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0252 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0253 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0254 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0255 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0256 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0257 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0258 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0259 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0260 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0261 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0262 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0263 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0264 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0265 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0266 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0267 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0268 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0269 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0270 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0271 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0272 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0273 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0274 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0275 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0276 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0277 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0278 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0279 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0280 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0281 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0282 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0283 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0284 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0285 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0286 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0287 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0288 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0289 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0290 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0291 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0292 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0293 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0294 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0295 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0296 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0297 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0298 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0299 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0300 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0301 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0302 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0303 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0304 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0305 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0306 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0307 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0308 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0309 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0310 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0311 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0312 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0313 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0314 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0315 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0316 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0317 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0318 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0319 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0320 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0321 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0322 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0323 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0324 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0325 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
g0326 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2187 300 71 50 123 13 41 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0003 0/0 2187 7 7 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0005 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0006 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0007 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0008 0/0 2187 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0009 0/0 2187 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0010 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0011 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0012 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0014 0/0 2187 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002 0/0 2187 9 4 4 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0004 0/0 2187 3 1 1 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0015 0/0 2187 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0003c0013 0/0 2169 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 6086 41 8 6 18 2 7 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0002 0/0 6084 32 10 3 13 4 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0003 0/0 6085 38 1 7 28 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0004 0/0 6085 23 2 1 15 2 3 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0005 0/0 6085 16 0 13 0 1 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0006 1/0 6083 12 0 2 2 2 5 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0007 0/0 6087 10 3 3 2 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0008 0/0 6083 11 0 0 11 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0009 0/0 6084 7 6 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0010 0/0 6085 7 2 1 4 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0011 0/0 6086 4 4 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0012 0/0 6087 6 1 2 3 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0013 0/0 6048 6 0 4 0 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0014 0/0 6086 4 2 1 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0015 0/0 6086 4 0 0 2 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0016 0/0 6171 3 3 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0017 0/0 6086 3 1 0 2 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0018 0/0 6086 3 0 0 2 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0019 0/0 6084 3 1 1 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0020 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0021 0/0 6085 2 1 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0022 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0023 0/0 6088 2 0 0 0 0 2 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0024 0/0 6085 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0025 0/0 6084 2 0 0 2 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0026 0/0 6086 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0027 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0028 0/0 6209 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0029 0/0 6210 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0030 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0031 0/0 6084 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0033 0/0 6170 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0034 0/0 6209 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0035 0/0 6085 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0036 0/0 6086 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0037 0/0 6087 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0038 0/0 6086 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0041 0/0 6043 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0042 0/0 6105 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0044 0/0 6087 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0045 0/0 6085 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0046 0/0 6085 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0047 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0049 0/0 6128 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0050 0/0 6087 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0051 0/0 6085 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0052 0/0 6085 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0053 0/0 6129 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0054 0/0 6084 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0056 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0057 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0058 0/0 6085 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0059 0/0 6088 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0060 0/0 6049 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0061 0/0 6086 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0062 0/0 5965 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0063 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0064 0/0 6197 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0065 0/0 6199 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0066 0/0 6084 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0067 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0068 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0069 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0070 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0071 0/0 6083 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0072 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0073 0/0 6083 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0074 0/0 6083 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0075 0/0 6086 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0076 0/0 6087 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0077 0/0 6046 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0079 0/0 6087 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0080 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0081 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0082 0/0 6085 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0083 0/1 6044 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0084 0/0 6083 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0085 0/0 6084 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0086 0/0 6084 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0087 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0001t0088 0/0 6085 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0003t0001 0/0 6086 3 3 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0003t0007 0/0 6087 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0003t0009 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0003t0020 0/0 6084 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0005t0003 0/0 6085 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0006t0040 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0007t0078 0/0 6084 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0008t0021 0/0 6085 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0009t0004 0/0 6085 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0010t0048 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0011t0039 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0012t0011 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0001c0014t0001 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002t0002 0/0 6084 5 1 3 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002t0011 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002t0022 0/0 6086 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002t0043 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0002t0055 0/0 6086 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0004t0001 0/0 6086 2 0 1 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0004t0002 0/0 6084 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0002c0015t0002 0/0 6084 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213
a0003c0013t0032 0/0 6068 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI copy fasta chr1 2223319 2315213

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 2 0 0 0 2 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0004 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0010 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0016 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0018 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0020 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0021 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0026 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0029 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0030 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0033 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0035 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0078 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0110 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0119 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0121 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0125 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0132 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0135 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0146 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0148 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0152 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0165 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0166 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0195 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0205 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0235 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0240 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0254 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0255 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0271 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0278 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0283 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0285 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0299 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0304 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0313 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0314 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0001g0323 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0027 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0036 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0038 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0049 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0072 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0075 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0076 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0077 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0081 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0093 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0094 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0101 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0102 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0105 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0106 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0109 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0123 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0124 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0129 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0154 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0203 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0222 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0242 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0247 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0256 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0277 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0301 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0318 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0320 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0322 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0002g0326 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0019 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0022 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0031 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0032 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0039 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0044 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0045 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0046 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0062 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0063 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0116 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0117 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0127 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0130 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0143 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0158 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0163 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0191 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0197 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0204 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0209 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0213 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0214 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0217 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0224 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0234 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0237 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0241 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0243 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0246 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0251 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0270 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0273 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0274 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0280 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0289 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0290 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0003g0291 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0006 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0008 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0009 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0013 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0017 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0025 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0034 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0037 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0040 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0090 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0114 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0115 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0118 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0134 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0151 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0218 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0219 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0220 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0230 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0248 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0260 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0275 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0004g0325 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0066 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0089 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0153 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0157 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0161 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0198 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0199 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0206 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0207 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0221 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0225 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0227 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0228 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0232 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0253 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0005g0268 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0065 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0080 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0088 1/0 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0131 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0142 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0150 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0211 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0226 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0284 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0300 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0310 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0006g0324 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0004 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0061 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0086 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0098 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0108 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0133 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0162 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0281 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0302 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0007g0305 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0041 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0042 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0107 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0111 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0140 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0193 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0196 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0202 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0210 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0239 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0008g0279 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0095 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0099 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0100 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0103 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0296 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0307 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0009g0308 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0047 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0048 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0085 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0092 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0096 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0164 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0010g0208 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0011g0003 0/0 2 2 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0011g0264 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0011g0265 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0067 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0155 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0160 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0194 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0215 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0012g0258 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0059 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0060 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0069 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0079 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0176 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0013g0177 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0014g0051 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0014g0070 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0014g0144 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0014g0229 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0015g0126 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0015g0136 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0015g0201 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0015g0236 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0016g0267 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0016g0298 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0016g0317 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0017g0068 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0017g0272 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0017g0287 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0018g0028 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0018g0147 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0018g0149 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0019g0223 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0019g0233 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0019g0249 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0020g0167 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0021g0250 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0021g0316 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0022g0303 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0023g0091 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0023g0139 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0024g0005 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0024g0169 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0025g0122 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0025g0238 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0026g0050 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0026g0295 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0027g0245 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0028g0055 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0029g0056 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0030g0054 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0031g0321 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0033g0073 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0034g0190 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0035g0261 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0036g0262 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0037g0012 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0038g0212 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0041g0306 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0042g0319 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0044g0292 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0045g0294 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0046g0057 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0047g0293 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0049g0087 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0050g0309 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0051g0276 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0052g0007 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0053g0082 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0054g0159 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0056g0315 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0057g0288 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0058g0297 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0059g0244 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0060g0058 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0061g0138 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0062g0257 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0063g0259 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0064g0311 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0065g0312 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0066g0282 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0067g0097 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0068g0145 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0069g0104 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0070g0074 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0071g0024 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0072g0200 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0073g0216 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0074g0192 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0075g0023 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0076g0113 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0077g0011 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0079g0128 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0080g0043 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0081g0083 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0082g0156 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0083g0231 0/1 1 0 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0084g0112 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0085g0263 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0086g0286 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0087g0168 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0001t0088g0120 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0001g0170 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0001g0172 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0001g0175 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0007g0171 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0009g0173 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0020g0014 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0003t0020g0015 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0005t0003g0137 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0006t0040g0053 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0007t0078g0269 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0008t0021g0252 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0009t0004g0064 0/0 1 0 0 1 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0010t0048g0052 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0011t0039g0071 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0012t0011g0266 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0001c0014t0001g0174 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0002g0002 0/0 2 0 2 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0002g0180 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0002g0184 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0002g0189 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0011g0179 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0022g0181 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0043g0182 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0002t0055g0183 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0004t0001g0187 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0004t0001g0188 0/0 1 0 1 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0004t0002g0186 0/0 1 1 0 0 0 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0002c0015t0002g0185 0/0 1 0 0 0 1 0 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
a0003c0013t0032g0178 0/0 1 0 0 0 0 1 SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0004 g0230 EUR GBR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00099 hp2 a0001 c0001 t0002 g0075 EUR GBR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00280 hp1 a0001 c0001 t0002 g0222 EUR FIN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00280 hp2 a0001 c0001 t0085 g0263 EUR FIN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00323 hp1 a0001 c0001 t0006 g0310 EUR FIN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00323 hp2 a0001 c0001 t0002 g0076 EUR FIN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00423 hp1 a0001 c0001 t0074 g0192 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00423 hp2 a0001 c0001 t0002 g0123 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00438 hp1 a0001 c0001 t0075 g0023 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00438 hp2 a0001 c0001 t0008 g0111 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00544 hp1 a0001 c0001 t0002 g0154 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00544 hp2 a0001 c0001 t0008 g0239 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00609 hp1 a0001 c0001 t0015 g0126 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00609 hp2 a0001 c0001 t0003 g0270 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00621 hp1 a0001 c0001 t0010 g0047 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00621 hp2 a0001 c0001 t0025 g0238 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00642 hp1 a0002 c0002 t0055 g0183 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00642 hp2 a0001 c0001 t0010 g0208 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00673 hp1 a0001 c0001 t0015 g0201 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00673 hp2 a0001 c0001 t0076 g0113 EAS CHS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00733 hp1 a0001 c0001 t0021 g0250 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00733 hp2 a0001 c0001 t0005 g0153 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00735 hp1 a0001 c0001 t0007 g0086 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00735 hp2 a0001 c0001 t0013 g0176 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00738 hp1 a0001 c0001 t0002 g0256 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00738 hp2 a0001 c0001 t0012 g0067 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00741 hp1 a0001 c0001 t0019 g0233 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG00741 hp2 a0001 c0001 t0003 g0234 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01070 hp1 a0001 c0008 t0021 g0252 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01070 hp2 a0001 c0001 t0013 g0069 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01074 hp1 a0001 c0001 t0006 g0300 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01074 hp2 a0001 c0001 t0031 g0321 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01081 hp1 a0001 c0001 t0001 g0165 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01081 hp2 a0001 c0001 t0003 g0213 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01099 hp1 a0001 c0001 t0009 g0296 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01099 hp2 a0001 c0001 t0005 g0232 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01109 hp1 a0001 c0001 t0003 g0224 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01109 hp2 a0001 c0001 t0002 g0105 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01169 hp1 a0001 c0001 t0005 g0207 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01169 hp2 a0001 c0001 t0006 g0324 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01243 hp1 a0002 c0002 t0002 g0184 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01243 hp2 a0001 c0001 t0044 g0292 AMR PUR SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01256 hp1 a0002 c0002 t0002 g0002 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01256 hp2 a0001 c0001 t0003 g0214 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01257 hp1 a0001 c0001 t0005 g0198 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01257 hp2 a0001 c0001 t0014 g0070 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01258 hp1 a0002 c0002 t0002 g0002 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01258 hp2 a0001 c0001 t0005 g0199 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01261 hp1 a0001 c0001 t0013 g0177 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01261 hp2 a0001 c0001 t0003 g0209 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01346 hp1 a0001 c0001 t0003 g0204 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01346 hp2 a0001 c0001 t0005 g0066 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01361 hp1 a0001 c0001 t0005 g0089 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01361 hp2 a0001 c0001 t0005 g0225 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01515 hp1 a0002 c0015 t0002 g0185 EUR IBS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01515 hp2 a0001 c0001 t0001 g0001 EUR IBS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01517 hp1 a0001 c0001 t0004 g0220 EUR IBS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01517 hp2 a0001 c0001 t0001 g0001 EUR IBS SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01884 hp1 a0001 c0001 t0002 g0102 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01884 hp2 a0001 c0001 t0014 g0051 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01891 hp1 a0001 c0003 t0020 g0015 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01891 hp2 a0002 c0002 t0002 g0180 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01928 hp1 a0001 c0001 t0005 g0227 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01928 hp2 a0001 c0001 t0054 g0159 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01952 hp1 a0001 c0001 t0012 g0160 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01952 hp2 a0001 c0001 t0003 g0158 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01975 hp1 a0001 c0001 t0005 g0206 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01975 hp2 a0001 c0001 t0001 g0110 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01978 hp1 a0001 c0001 t0007 g0061 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01978 hp2 a0001 c0001 t0001 g0141 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01981 hp1 a0001 c0001 t0001 g0254 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01981 hp2 a0001 c0001 t0002 g0203 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01993 hp1 a0001 c0001 t0001 g0255 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01993 hp2 a0001 c0001 t0005 g0161 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02004 hp1 a0001 c0001 t0013 g0079 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02004 hp2 a0001 c0001 t0001 g0026 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02015 hp1 a0001 c0001 t0002 g0109 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02015 hp2 a0001 c0001 t0002 g0247 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02027 hp1 a0001 c0001 t0003 g0143 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02027 hp2 a0001 c0001 t0003 g0163 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02055 hp1 a0001 c0001 t0010 g0096 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02055 hp2 a0001 c0001 t0001 g0235 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02071 hp1 a0001 c0001 t0053 g0082 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02071 hp2 a0001 c0001 t0006 g0131 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02074 hp1 a0001 c0001 t0002 g0084 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02074 hp2 a0001 c0001 t0006 g0065 EAS KHV SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02145 hp1 a0001 c0001 t0009 g0103 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02145 hp2 a0001 c0001 t0068 g0145 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02155 hp1 a0001 c0001 t0002 g0036 EAS CDX SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02155 hp2 a0001 c0001 t0038 g0212 EAS CDX SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02165 hp1 a0001 c0001 t0002 g0049 EAS CDX SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02165 hp2 a0001 c0001 t0002 g0124 EAS CDX SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02258 hp1 a0001 c0001 t0050 g0309 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02258 hp2 a0001 c0001 t0002 g0320 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02273 hp1 a0001 c0001 t0004 g0248 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02273 hp2 a0001 c0001 t0005 g0157 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02280 hp1 a0001 c0011 t0039 g0071 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02280 hp2 a0001 c0001 t0004 g0325 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02300 hp1 a0002 c0004 t0001 g0188 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02300 hp2 a0001 c0001 t0007 g0162 AMR PEL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02572 hp1 a0001 c0001 t0010 g0092 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02572 hp2 a0001 c0010 t0048 g0052 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02615 hp1 a0001 c0001 t0007 g0302 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02615 hp2 a0001 c0001 t0069 g0104 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02622 hp1 a0001 c0001 t0026 g0295 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02622 hp2 a0001 c0001 t0062 g0257 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02630 hp1 a0001 c0003 t0007 g0171 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02630 hp2 a0001 c0001 t0011 g0265 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02647 hp1 a0001 c0001 t0002 g0106 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02647 hp2 a0002 c0002 t0043 g0182 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02698 hp1 a0001 c0001 t0001 g0135 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02698 hp2 a0001 c0001 t0006 g0284 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02717 hp1 a0001 c0001 t0021 g0316 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02717 hp2 a0001 c0001 t0056 g0315 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02723 hp1 a0001 c0001 t0001 g0078 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02723 hp2 a0001 c0001 t0016 g0267 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02735 hp1 a0001 c0001 t0006 g0211 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02735 hp2 a0001 c0001 t0004 g0134 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02738 hp1 a0001 c0001 t0066 g0282 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02738 hp2 a0001 c0001 t0006 g0226 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02809 hp1 a0001 c0001 t0045 g0294 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02809 hp2 a0001 c0001 t0009 g0100 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02818 hp1 a0001 c0001 t0035 g0261 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02818 hp2 a0001 c0001 t0009 g0095 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02886 hp1 a0001 c0003 t0001 g0175 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02886 hp2 a0001 c0001 t0067 g0097 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02896 hp1 a0001 c0001 t0001 g0314 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02896 hp2 a0001 c0001 t0017 g0068 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02897 hp1 a0001 c0014 t0001 g0174 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02897 hp2 a0001 c0001 t0001 g0313 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02922 hp1 a0001 c0001 t0009 g0099 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02922 hp2 a0001 c0001 t0016 g0298 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02976 hp1 a0001 c0001 t0087 g0168 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02976 hp2 a0001 c0012 t0011 g0266 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03017 hp1 a0001 c0001 t0001 g0132 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03017 hp2 a0001 c0001 t0086 g0286 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03041 hp1 a0001 c0003 t0001 g0170 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03041 hp2 a0001 c0001 t0002 g0094 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03098 hp1 a0001 c0001 t0009 g0307 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03098 hp2 a0001 c0001 t0033 g0073 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03130 hp1 a0001 c0001 t0002 g0326 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03130 hp2 a0001 c0001 t0001 g0271 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03139 hp1 a0001 c0001 t0011 g0264 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03139 hp2 a0001 c0001 t0070 g0074 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03209 hp1 a0001 c0001 t0002 g0322 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03209 hp2 a0001 c0001 t0012 g0258 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03225 hp1 a0001 c0001 t0001 g0299 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03225 hp2 a0001 c0006 t0040 g0053 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03239 hp1 a0001 c0001 t0003 g0217 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03239 hp2 a0001 c0001 t0005 g0253 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03453 hp1 a0001 c0001 t0001 g0285 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03453 hp2 a0001 c0003 t0020 g0014 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03486 hp1 a0001 c0003 t0009 g0173 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03486 hp2 a0001 c0001 t0041 g0306 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03490 hp1 a0001 c0001 t0084 g0112 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03490 hp2 a0001 c0001 t0013 g0059 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03491 hp1 a0001 c0001 t0003 g0237 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03491 hp2 a0001 c0001 t0001 g0004 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03492 hp1 a0001 c0001 t0007 g0004 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03492 hp2 a0001 c0001 t0060 g0058 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03516 hp1 a0001 c0001 t0029 g0056 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03516 hp2 a0001 c0001 t0024 g0005 AFR ESN SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03540 hp1 a0002 c0002 t0022 g0181 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03540 hp2 a0001 c0001 t0009 g0308 AFR GWD SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03579 hp1 a0001 c0001 t0047 g0293 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03579 hp2 a0001 c0001 t0002 g0072 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03654 hp1 a0001 c0001 t0007 g0108 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03654 hp2 a0003 c0013 t0032 g0178 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03669 hp1 a0001 c0001 t0023 g0091 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03669 hp2 a0001 c0001 t0006 g0142 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03688 hp1 a0001 c0001 t0018 g0028 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03688 hp2 a0001 c0001 t0061 g0138 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03704 hp1 a0001 c0001 t0064 g0311 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03704 hp2 a0001 c0001 t0005 g0268 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03710 hp1 a0001 c0001 t0013 g0060 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03710 hp2 a0001 c0001 t0001 g0119 SAS PJL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03831 hp1 a0001 c0001 t0004 g0219 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03831 hp2 a0001 c0001 t0001 g0166 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03834 hp1 a0001 c0001 t0002 g0318 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03834 hp2 a0001 c0001 t0006 g0150 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03927 hp1 a0001 c0001 t0023 g0139 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03927 hp2 a0001 c0001 t0051 g0276 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03942 hp1 a0001 c0001 t0001 g0146 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03942 hp2 a0001 c0001 t0065 g0312 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04115 hp1 a0001 c0001 t0014 g0144 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04115 hp2 a0002 c0004 t0001 g0187 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04184 hp1 a0001 c0001 t0004 g0218 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04184 hp2 a0001 c0001 t0002 g0301 SAS BEB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04199 hp1 a0001 c0001 t0049 g0087 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04199 hp2 a0002 c0002 t0002 g0189 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04204 hp1 a0001 c0001 t0015 g0136 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG04204 hp2 a0001 c0001 t0015 g0236 SAS STU SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18522 hp1 a0001 c0001 t0007 g0305 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18522 hp2 a0002 c0002 t0011 g0179 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18612 hp1 a0001 c0001 t0082 g0156 EAS CHB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18612 hp2 a0001 c0001 t0002 g0038 EAS CHB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18747 hp1 a0001 c0001 t0001 g0121 EAS CHB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18747 hp2 a0001 c0001 t0001 g0030 EAS CHB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18906 hp1 a0001 c0001 t0016 g0317 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18906 hp2 a0001 c0001 t0022 g0303 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18940 hp1 a0001 c0001 t0001 g0152 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18940 hp2 a0001 c0001 t0004 g0090 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18942 hp1 a0001 c0001 t0004 g0034 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18942 hp2 a0001 c0001 t0001 g0195 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18944 hp1 a0001 c0001 t0004 g0118 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18944 hp2 a0001 c0001 t0001 g0016 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18945 hp1 a0001 c0001 t0004 g0006 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18945 hp2 a0001 c0001 t0008 g0193 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18946 hp1 a0001 c0007 t0078 g0269 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18946 hp2 a0001 c0001 t0001 g0020 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18947 hp1 a0001 c0001 t0002 g0242 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18947 hp2 a0001 c0001 t0007 g0281 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18948 hp1 a0001 c0001 t0008 g0140 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18948 hp2 a0001 c0001 t0003 g0039 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18950 hp1 a0001 c0001 t0008 g0210 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18950 hp2 a0001 c0001 t0079 g0128 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18954 hp1 a0001 c0001 t0003 g0127 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18954 hp2 a0001 c0001 t0003 g0243 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18956 hp1 a0001 c0001 t0001 g0010 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18956 hp2 a0001 c0001 t0004 g0017 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18959 hp1 a0001 c0001 t0008 g0196 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18959 hp2 a0001 c0001 t0003 g0031 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18961 hp1 a0001 c0001 t0001 g0283 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18961 hp2 a0001 c0001 t0001 g0033 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18962 hp1 a0001 c0001 t0004 g0275 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18962 hp2 a0001 c0001 t0072 g0200 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18964 hp1 a0001 c0001 t0003 g0280 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18964 hp2 a0001 c0001 t0025 g0122 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18967 hp1 a0001 c0001 t0003 g0063 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18967 hp2 a0001 c0001 t0003 g0130 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18971 hp1 a0001 c0001 t0008 g0042 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18971 hp2 a0001 c0001 t0002 g0129 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18977 hp1 a0001 c0001 t0017 g0272 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18977 hp2 a0001 c0001 t0003 g0022 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18979 hp1 a0001 c0001 t0008 g0041 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18979 hp2 a0001 c0001 t0007 g0133 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18980 hp1 a0001 c0001 t0010 g0085 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18980 hp2 a0001 c0001 t0004 g0115 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18982 hp1 a0001 c0001 t0081 g0083 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18982 hp2 a0001 c0001 t0004 g0008 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18983 hp1 a0001 c0001 t0003 g0241 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18983 hp2 a0001 c0001 t0002 g0277 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18984 hp1 a0001 c0001 t0003 g0274 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18984 hp2 a0001 c0001 t0001 g0029 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18990 hp1 a0001 c0001 t0003 g0044 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18990 hp2 a0001 c0001 t0004 g0013 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18991 hp1 a0001 c0001 t0008 g0202 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18991 hp2 a0001 c0001 t0012 g0155 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18995 hp1 a0001 c0001 t0003 g0062 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18995 hp2 a0001 c0001 t0003 g0116 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18998 hp1 a0001 c0001 t0071 g0024 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA18998 hp2 a0001 c0009 t0004 g0064 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19000 hp1 a0001 c0001 t0073 g0216 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19000 hp2 a0001 c0001 t0001 g0125 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19002 hp1 a0001 c0001 t0018 g0147 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19002 hp2 a0001 c0001 t0042 g0319 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19007 hp1 a0001 c0001 t0001 g0021 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19007 hp2 a0001 c0001 t0003 g0291 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19011 hp1 a0001 c0001 t0004 g0037 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19011 hp2 a0001 c0001 t0010 g0164 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19012 hp1 a0001 c0001 t0003 g0197 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19012 hp2 a0001 c0001 t0017 g0287 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19030 hp1 a0001 c0001 t0024 g0169 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19030 hp2 a0001 c0001 t0026 g0050 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19043 hp1 a0001 c0001 t0030 g0054 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19043 hp2 a0001 c0001 t0011 g0003 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19057 hp1 a0001 c0001 t0001 g0035 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19057 hp2 a0001 c0001 t0003 g0273 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19062 hp1 a0001 c0001 t0003 g0045 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19062 hp2 a0001 c0001 t0001 g0278 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19063 hp1 a0001 c0001 t0004 g0025 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19063 hp2 a0001 c0001 t0003 g0046 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19064 hp1 a0001 c0001 t0052 g0007 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19064 hp2 a0001 c0001 t0008 g0279 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19065 hp1 a0001 c0001 t0002 g0027 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19065 hp2 a0001 c0001 t0001 g0323 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19066 hp1 a0001 c0001 t0004 g0151 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19066 hp2 a0001 c0001 t0057 g0288 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19067 hp1 a0001 c0005 t0003 g0137 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19067 hp2 a0001 c0001 t0003 g0290 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19068 hp1 a0001 c0001 t0001 g0240 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19068 hp2 a0001 c0001 t0004 g0009 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19070 hp1 a0001 c0001 t0003 g0032 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19070 hp2 a0001 c0001 t0001 g0148 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19074 hp1 a0001 c0001 t0003 g0289 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19074 hp2 a0001 c0001 t0027 g0245 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19079 hp1 a0001 c0001 t0004 g0040 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19079 hp2 a0001 c0001 t0077 g0011 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19080 hp1 a0001 c0001 t0012 g0215 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19080 hp2 a0001 c0001 t0018 g0149 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19081 hp1 a0001 c0001 t0003 g0117 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19081 hp2 a0001 c0001 t0012 g0194 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19082 hp1 a0001 c0001 t0010 g0048 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19082 hp2 a0001 c0001 t0003 g0019 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19084 hp1 a0001 c0001 t0003 g0191 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19084 hp2 a0001 c0001 t0008 g0107 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19088 hp1 a0001 c0001 t0037 g0012 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19088 hp2 a0001 c0001 t0059 g0244 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19090 hp1 a0001 c0001 t0003 g0246 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19090 hp2 a0001 c0001 t0080 g0043 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19091 hp1 a0001 c0001 t0001 g0018 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19091 hp2 a0001 c0001 t0004 g0114 EAS JPT SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19240 hp1 a0001 c0001 t0007 g0098 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA19240 hp2 a0001 c0001 t0020 g0167 AFR YRI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20129 hp1 a0001 c0001 t0011 g0003 AFR ASW SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20129 hp2 a0001 c0001 t0019 g0223 AFR ASW SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20752 hp1 a0001 c0001 t0005 g0228 EUR TSI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20752 hp2 a0001 c0001 t0002 g0081 EUR TSI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20805 hp1 a0001 c0001 t0006 g0080 EUR TSI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20805 hp2 a0001 c0001 t0019 g0249 EUR TSI SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20905 hp1 a0001 c0001 t0088 g0120 SAS GIH SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20905 hp2 a0001 c0001 t0001 g0205 SAS GIH SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01123 hp1 a0001 c0001 t0005 g0221 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG01123 hp2 a0001 c0001 t0036 g0262 AMR CLM SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02109 hp1 a0001 c0001 t0014 g0229 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02109 hp2 a0001 c0001 t0063 g0259 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02486 hp1 a0001 c0001 t0003 g0251 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02486 hp2 a0002 c0004 t0002 g0186 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02559 hp1 a0001 c0001 t0058 g0297 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG02559 hp2 a0001 c0001 t0002 g0077 AFR ACB SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03471 hp1 a0001 c0003 t0001 g0172 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG03471 hp2 a0001 c0001 t0002 g0093 AFR MSL SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG06807 hp1 a0001 c0001 t0034 g0190 AFR USA SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
HG06807 hp2 a0001 c0001 t0046 g0057 AFR USA SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20300 hp1 a0001 c0001 t0002 g0101 AFR USA SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA20300 hp2 a0001 c0001 t0001 g0304 AFR USA SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA21309 hp1 a0001 c0001 t0004 g0260 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
NA21309 hp2 a0001 c0001 t0028 g0055 AFR LWK SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
homoSapiens_chm13v2 hp1 a0001 c0001 t0083 g0231 REF REF SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213
homoSapiens_grch38 hp1 a0001 c0001 t0006 g0088 REF REF SKI_chr1_2223319_2315213 SKI chr1 2223319 2315213

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
chr1:2228951 C
C
 G
G
 1 a0002
a0002
 13 HG00642.hp1
HG01243.hp1
HG01256.hp1
others(10): Show 
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
 missense_variant MODERATE c.185C>G
c.185C>G
 p.Ala62Gly
p.Ala62Gly
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 633/6083 185/2187 62/728 chr1 2228951
chr1:2304394 CCTGATGC
others(11): Show 
CCTGATGCTGCGGCCCCTG
 C
C
 1 a0003
a0003
 1 HG03654.hp2
HG03654.hp2
 disruptive_inframe_deletion MODERATE c.1578_1595delTGATGC
others(12): Show 
c.1578_1595delTGATGCTGCGGCCCCTGC
 p.Asp527_Ala532del
p.Asp527_Ala532del
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/7 2026/6083 1578/2187 526/728 INFO_REALIGN_3_PRIME chr1 2304394

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
chr1:2228865 C
C
 G
G
 2 a0002c0004
a0002c0015
a0002c0004
a0002c0015
 4 HG01515.hp1
HG02300.hp1
HG02486.hp2
others(1): Show 
HG01515.hp1
HG02300.hp1
HG02486.hp2
HG04115.hp2
 synonymous_variant LOW c.99C>G
c.99C>G
 p.Gly33Gly
p.Gly33Gly
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 547/6083 99/2187 33/728 chr1 2228865
chr1:2229060 C
C
 T
T
 2 a0001c0003
a0001c0014
a0001c0003
a0001c0014
 8 HG01891.hp1
HG02630.hp1
HG02886.hp1
others(5): Show 
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02897.hp1
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
 synonymous_variant LOW c.294C>T
c.294C>T
 p.Thr98Thr
p.Thr98Thr
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 742/6083 294/2187 98/728 chr1 2229060
chr1:2229477 C
C
 T
T
 1 a0003c0013
a0003c0013
 1 HG03654.hp2
HG03654.hp2
 synonymous_variant LOW c.711C>T
c.711C>T
 p.Tyr237Tyr
p.Tyr237Tyr
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 1159/6083 711/2187 237/728 chr1 2229477
chr1:2229645 C
C
 T
T
 1 a0001c0012
a0001c0012
 1 HG02976.hp2
HG02976.hp2
 synonymous_variant LOW c.879C>T
c.879C>T
 p.Gly293Gly
p.Gly293Gly
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 1327/6083 879/2187 293/728 chr1 2229645
chr1:2303966 C
C
 T
T
 1 a0001c0011
a0001c0011
 1 HG02280.hp1
HG02280.hp1
 synonymous_variant LOW c.1338C>T
c.1338C>T
 p.Leu446Leu
p.Leu446Leu
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/7 1786/6083 1338/2187 446/728 chr1 2303966
chr1:2304038 C
C
 T
T
 2 a0001c0010
a0001c0014
a0001c0010
a0001c0014
 2 HG02572.hp2
HG02897.hp1
HG02572.hp2
HG02897.hp1
 synonymous_variant LOW c.1410C>T
c.1410C>T
 p.Pro470Pro
p.Pro470Pro
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/7 1858/6083 1410/2187 470/728 chr1 2304038
chr1:2304074 G
G
 A
A
 1 a0002c0015
a0002c0015
 1 HG01515.hp1
HG01515.hp1
 synonymous_variant LOW c.1446G>A
c.1446G>A
 p.Ala482Ala
p.Ala482Ala
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/7 1894/6083 1446/2187 482/728 chr1 2304074
chr1:2304552 C
C
 T
T
 1 a0001c0009
a0001c0009
 1 NA18998.hp2
NA18998.hp2
 synonymous_variant LOW c.1734C>T
c.1734C>T
 p.Ser578Ser
p.Ser578Ser
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/7 2182/6083 1734/2187 578/728 chr1 2304552
chr1:2306175 G
G
 A
A
 1 a0001c0005
a0001c0005
 1 NA19067.hp1
NA19067.hp1
 synonymous_variant LOW c.1923G>A
c.1923G>A
 p.Leu641Leu
p.Leu641Leu
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/7 2371/6083 1923/2187 641/728 chr1 2306175
chr1:2306226 C
C
 T
T
 1 a0001c0008
a0001c0008
 1 HG01070.hp1
HG01070.hp1
 synonymous_variant LOW c.1974C>T
c.1974C>T
 p.Arg658Arg
p.Arg658Arg
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/7 2422/6083 1974/2187 658/728 chr1 2306226
chr1:2306615 G
G
 T
T
 1 a0001c0007
a0001c0007
 1 NA18946.hp1
NA18946.hp1
 synonymous_variant LOW c.2037G>T
c.2037G>T
 p.Ala679Ala
p.Ala679Ala
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2485/6083 2037/2187 679/728 chr1 2306615
chr1:2306762 G
G
 C
C
 1 a0001c0006
a0001c0006
 1 HG03225.hp2
HG03225.hp2
 synonymous_variant LOW c.2184G>C
c.2184G>C
 p.Pro728Pro
p.Pro728Pro
 SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2632/6083 2184/2187 728/728 chr1 2306762

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
chr1:2228502 G
G
 C
C
 1 a0001c0001t0027
a0001c0001t0027
 1 NA19074.hp2
NA19074.hp2
 5_prime_UTR_variant MODIFIER c.-265G>C
c.-265G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/7 265 chr1 2228502
chr1:2306798 A
A
 T
T
 9 a0001c0001t0021
a0001c0001t0026
a0001c0001t0083
others(6): Show 
a0001c0001t0021
a0001c0001t0026
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0087
a0001c0001t0088
a0001c0008t0021
 11 HG00280.hp2
HG00733.hp1
HG01070.hp1
others(8): Show 
HG00280.hp2
HG00733.hp1
HG01070.hp1
HG02622.hp1
HG02717.hp1
HG02976.hp1
HG03017.hp2
HG03490.hp1
NA19030.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*33A>T
c.*33A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 33 chr1 2306798
chr1:2306804 G
G
 A
A
 3 a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
 3 HG03516.hp1
NA19043.hp1
NA21309.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*39G>A
c.*39G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 39 chr1 2306804
chr1:2306974 C
C
 T
T
 1 a0001c0001t0082
a0001c0001t0082
 1 NA18612.hp1
NA18612.hp1
 3_prime_UTR_variant MODIFIER c.*209C>T
c.*209C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 209 chr1 2306974
chr1:2307089 A
A
 G
G
 1 a0001c0001t0081
a0001c0001t0081
 1 NA18982.hp1
NA18982.hp1
 3_prime_UTR_variant MODIFIER c.*324A>G
c.*324A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 324 chr1 2307089
chr1:2307127 C
C
 T
T
 1 a0001c0001t0080
a0001c0001t0080
 1 NA19090.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*362C>T
c.*362C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 362 chr1 2307127
chr1:2307143 A
A
 G
G
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*378A>G
c.*378A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 378 chr1 2307143
chr1:2307194 C
C
 T
T
 1 a0001c0007t0078
a0001c0007t0078
 1 NA18946.hp1
NA18946.hp1
 3_prime_UTR_variant MODIFIER c.*429C>T
c.*429C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 429 chr1 2307194
chr1:2307195 T
T
 C
C
 1 a0001c0007t0078
a0001c0007t0078
 1 NA18946.hp1
NA18946.hp1
 3_prime_UTR_variant MODIFIER c.*430T>C
c.*430T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 430 chr1 2307195
chr1:2307288 G
G
 A
A
 2 a0001c0001t0031
a0003c0013t0032
a0001c0001t0031
a0003c0013t0032
 2 HG01074.hp2
HG03654.hp2
HG01074.hp2
HG03654.hp2
 3_prime_UTR_variant MODIFIER c.*523G>A
c.*523G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 523 chr1 2307288
chr1:2307457 G
G
 A
A
 8 a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
others(5): Show 
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
 10 HG01123.hp2
HG02723.hp2
HG02818.hp1
others(7): Show 
HG01123.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19043.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*692G>A
c.*692G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 692 chr1 2307457
chr1:2307470 C
C
 T
T
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*705C>T
c.*705C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 705 chr1 2307470
chr1:2307626 C
C
 T
T
 2 a0001c0001t0020
a0001c0003t0020
a0001c0001t0020
a0001c0003t0020
 3 HG01891.hp1
HG03453.hp2
NA19240.hp2
HG01891.hp1
HG03453.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*861C>T
c.*861C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 861 chr1 2307626
chr1:2308145 G
G
 A
A
 1 a0001c0001t0037
a0001c0001t0037
 1 NA19088.hp1
NA19088.hp1
 3_prime_UTR_variant MODIFIER c.*1380G>A
c.*1380G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1380 chr1 2308145
chr1:2308176 A
A
 G
G
 1 a0001c0001t0077
a0001c0001t0077
 1 NA19079.hp2
NA19079.hp2
 3_prime_UTR_variant MODIFIER c.*1411A>G
c.*1411A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1411 chr1 2308176
chr1:2308208 G
G
 A
A
 1 a0001c0001t0038
a0001c0001t0038
 1 HG02155.hp2
HG02155.hp2
 3_prime_UTR_variant MODIFIER c.*1443G>A
c.*1443G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1443 chr1 2308208
chr1:2308213 C
C
 T
T
 2 a0001c0001t0075
a0001c0001t0076
a0001c0001t0075
a0001c0001t0076
 2 HG00438.hp1
HG00673.hp2
HG00438.hp1
HG00673.hp2
 3_prime_UTR_variant MODIFIER c.*1448C>T
c.*1448C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1448 chr1 2308213
chr1:2308384 A
A
 C
C
 1 a0001c0001t0074
a0001c0001t0074
 1 HG00423.hp1
HG00423.hp1
 3_prime_UTR_variant MODIFIER c.*1619A>C
c.*1619A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1619 chr1 2308384
chr1:2308489 C
C
 T
T
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*1724C>T
c.*1724C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1724 chr1 2308489
chr1:2308567 T
T
 C
C
 74 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(71): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0026
a0001c0001t0027
a0001c0001t0031
a0001c0001t0037
a0001c0001t0038
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0049
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0059
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0079
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0087
a0001c0001t0088
a0001c0003t0001
a0001c0003t0007
a0001c0005t0003
a0001c0006t0040
a0001c0007t0078
a0001c0008t0021
a0001c0009t0004
a0001c0010t0048
a0001c0011t0039
a0001c0012t0011
a0001c0014t0001
a0002c0002t0002
a0002c0002t0011
a0002c0002t0022
a0002c0002t0043
a0002c0002t0055
a0002c0004t0001
a0002c0004t0002
a0002c0015t0002
a0003c0013t0032
 269 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1802T>C
c.*1802T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1802 chr1 2308567
chr1:2308614 T
T
 C
C
 1 a0001c0011t0039
a0001c0011t0039
 1 HG02280.hp1
HG02280.hp1
 3_prime_UTR_variant MODIFIER c.*1849T>C
c.*1849T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1849 chr1 2308614
chr1:2308635 A
A
 G
G
 1 a0001c0001t0019
a0001c0001t0019
 3 HG00741.hp1
NA20129.hp2
NA20805.hp2
HG00741.hp1
NA20129.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1870A>G
c.*1870A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1870 chr1 2308635
chr1:2308647 A
A
 C
C
 1 a0001c0001t0063
a0001c0001t0063
 1 HG02109.hp2
HG02109.hp2
 3_prime_UTR_variant MODIFIER c.*1882A>C
c.*1882A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1882 chr1 2308647
chr1:2308737 C
C
 T
T
 1 a0001c0001t0062
a0001c0001t0062
 1 HG02622.hp2
HG02622.hp2
 3_prime_UTR_variant MODIFIER c.*1972C>T
c.*1972C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1972 chr1 2308737
chr1:2308760 T
T
 C
C
 1 a0001c0006t0040
a0001c0006t0040
 1 HG03225.hp2
HG03225.hp2
 3_prime_UTR_variant MODIFIER c.*1995T>C
c.*1995T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 1995 chr1 2308760
chr1:2308863 A
A
 G
G
 1 a0001c0001t0061
a0001c0001t0061
 1 HG03688.hp2
HG03688.hp2
 3_prime_UTR_variant MODIFIER c.*2098A>G
c.*2098A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2098 chr1 2308863
chr1:2308944 C
C
 T
T
 5 a0001c0001t0005
a0001c0001t0013
a0001c0001t0015
others(2): Show 
a0001c0001t0005
a0001c0001t0013
a0001c0001t0015
a0001c0001t0059
a0001c0001t0060
 28 HG00609.hp1
HG00673.hp1
HG00733.hp2
others(25): Show 
HG00609.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02004.hp1
HG02273.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
NA19088.hp2
NA20752.hp1
 3_prime_UTR_variant MODIFIER c.*2179C>T
c.*2179C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2179 chr1 2308944
chr1:2309010 G
G
 A
A
 1 a0001c0001t0041
a0001c0001t0041
 1 HG03486.hp2
HG03486.hp2
 3_prime_UTR_variant MODIFIER c.*2245G>A
c.*2245G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2245 chr1 2309010
chr1:2309015 G
G
 C
C
 5 a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
others(2): Show 
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0034
 7 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(4): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2250G>C
c.*2250G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2250 chr1 2309015
chr1:2309027 C
C
 T
T
 1 a0001c0001t0088
a0001c0001t0088
 1 NA20905.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*2262C>T
c.*2262C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2262 chr1 2309027
chr1:2309066 A
A
 G
G
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*2301A>G
c.*2301A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2301 chr1 2309066
chr1:2309067 C
C
 T
T
 7 a0001c0001t0008
a0001c0001t0025
a0001c0001t0071
others(4): Show 
a0001c0001t0008
a0001c0001t0025
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0080
a0001c0001t0081
 18 HG00438.hp2
HG00544.hp2
HG00621.hp2
others(15): Show 
HG00438.hp2
HG00544.hp2
HG00621.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18971.hp1
NA18979.hp1
NA18982.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19064.hp2
NA19084.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*2302C>T
c.*2302C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2302 chr1 2309067
chr1:2309113 T
T
 A
A
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2348T>A
c.*2348T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2348 chr1 2309113
chr1:2309114 G
G
 GCCTGTGC
others(11): Show 
GCCTGTGCGCAGGCCCTGC
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2349_*2350insCCTG
others(14): Show 
c.*2349_*2350insCCTGTGCGCAGGCCCTGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2350 chr1 2309114
chr1:2309120 G
G
 C
C
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2355G>C
c.*2355G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2355 chr1 2309120
chr1:2309125 T
T
 C
C
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2360T>C
c.*2360T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2360 chr1 2309125
chr1:2309127 T
T
 A
A
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2362T>A
c.*2362T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2362 chr1 2309127
chr1:2309129 G
G
 A
A
 1 a0001c0001t0071
a0001c0001t0071
 1 NA18998.hp1
NA18998.hp1
 3_prime_UTR_variant MODIFIER c.*2364G>A
c.*2364G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2364 chr1 2309129
chr1:2309130 C
C
 G
G
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2365C>G
c.*2365C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2365 chr1 2309130
chr1:2309133 C
C
 T
T
 1 a0001c0001t0087
a0001c0001t0087
 1 HG02976.hp1
HG02976.hp1
 3_prime_UTR_variant MODIFIER c.*2368C>T
c.*2368C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2368 chr1 2309133
chr1:2309137 G
G
 C
C
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2372G>C
c.*2372G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2372 chr1 2309137
chr1:2309149 T
T
 A
A
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2384T>A
c.*2384T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2384 chr1 2309149
chr1:2309151 A
A
 T
T
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2386A>T
c.*2386A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2386 chr1 2309151
chr1:2309162 G
G
 A
A
 4 a0001c0001t0011
a0001c0012t0011
a0002c0002t0011
others(1): Show 
a0001c0001t0011
a0001c0012t0011
a0002c0002t0011
a0002c0002t0043
 7 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
NA18522.hp2
NA19043.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*2397G>A
c.*2397G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2397 chr1 2309162
chr1:2309194 C
C
 A
A
 2 a0001c0001t0022
a0002c0002t0022
a0001c0001t0022
a0002c0002t0022
 2 HG03540.hp1
NA18906.hp2
HG03540.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*2429C>A
c.*2429C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2429 chr1 2309194
chr1:2309211 T
T
 G
G
 1 a0001c0001t0042
a0001c0001t0042
 1 NA19002.hp2
NA19002.hp2
 3_prime_UTR_variant MODIFIER c.*2446T>G
c.*2446T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2446 chr1 2309211
chr1:2309308 A
A
 T
T
 1 a0001c0007t0078
a0001c0007t0078
 1 NA18946.hp1
NA18946.hp1
 3_prime_UTR_variant MODIFIER c.*2543A>T
c.*2543A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2543 chr1 2309308
chr1:2309476 C
C
 T
T
 1 a0001c0001t0058
a0001c0001t0058
 1 HG02559.hp1
HG02559.hp1
 3_prime_UTR_variant MODIFIER c.*2711C>T
c.*2711C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2711 chr1 2309476
chr1:2309513 G
G
 A
A
 2 a0001c0001t0064
a0001c0001t0065
a0001c0001t0064
a0001c0001t0065
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 3_prime_UTR_variant MODIFIER c.*2748G>A
c.*2748G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2748 chr1 2309513
chr1:2309577 A
A
 T
T
 1 a0001c0001t0057
a0001c0001t0057
 1 NA19066.hp2
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*2812A>T
c.*2812A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2812 chr1 2309577
chr1:2309598 A
A
 T
T
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2833A>T
c.*2833A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2833 chr1 2309598
chr1:2309600 G
G
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2835G>A
c.*2835G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2835 chr1 2309600
chr1:2309604 G
G
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2839G>A
c.*2839G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2839 chr1 2309604
chr1:2309606 C
C
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2841C>A
c.*2841C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2841 chr1 2309606
chr1:2309607 G
G
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2842G>A
c.*2842G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2842 chr1 2309607
chr1:2309608 G
G
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2843G>A
c.*2843G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2843 chr1 2309608
chr1:2309610 G
G
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2845G>A
c.*2845G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2845 chr1 2309610
chr1:2309614 C
C
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2849C>A
c.*2849C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2849 chr1 2309614
chr1:2309620 T
T
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2855T>G
c.*2855T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2855 chr1 2309620
chr1:2309622 C
C
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2857C>G
c.*2857C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2857 chr1 2309622
chr1:2309623 G
G
 T
T
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2858G>T
c.*2858G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2858 chr1 2309623
chr1:2309624 T
T
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2859T>A
c.*2859T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2859 chr1 2309624
chr1:2309625 T
T
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2860T>G
c.*2860T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2860 chr1 2309625
chr1:2309626 T
T
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2861T>G
c.*2861T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2861 chr1 2309626
chr1:2309627 C
C
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2862C>G
c.*2862C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2862 chr1 2309627
chr1:2309628 C
C
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2863C>A
c.*2863C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2863 chr1 2309628
chr1:2309629 C
C
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2864C>G
c.*2864C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2864 chr1 2309629
chr1:2309633 T
T
 G
G
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2868T>G
c.*2868T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2868 chr1 2309633
chr1:2309643 C
C
 A
A
 1 a0001c0001t0056
a0001c0001t0056
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*2878C>A
c.*2878C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2878 chr1 2309643
chr1:2309656 T
T
 C
C
 3 a0001c0001t0016
a0001c0001t0033
a0001c0001t0044
a0001c0001t0016
a0001c0001t0033
a0001c0001t0044
 5 HG01243.hp2
HG02723.hp2
HG02922.hp2
others(2): Show 
HG01243.hp2
HG02723.hp2
HG02922.hp2
HG03098.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2891T>C
c.*2891T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2891 chr1 2309656
chr1:2309659 G
G
 A
A
 2 a0001c0001t0016
a0001c0001t0033
a0001c0001t0016
a0001c0001t0033
 4 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2894G>A
c.*2894G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2894 chr1 2309659
chr1:2309666 C
C
 G
G
 1 a0003c0013t0032
a0003c0013t0032
 1 HG03654.hp2
HG03654.hp2
 3_prime_UTR_variant MODIFIER c.*2901C>G
c.*2901C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2901 chr1 2309666
chr1:2309666 C
C
 T
T
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*2901C>T
c.*2901C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2901 chr1 2309666
chr1:2309677 T
T
 C
C
 2 a0001c0001t0016
a0001c0001t0033
a0001c0001t0016
a0001c0001t0033
 4 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2912T>C
c.*2912T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2912 chr1 2309677
chr1:2309677 T
T
 TCCTCCTC
others(107): Show 
TCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTG
TGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACC
CCGGCCCCCCCACCC
 1 a0001c0001t0064
a0001c0001t0064
 1 HG03704.hp1
HG03704.hp1
 3_prime_UTR_variant MODIFIER c.*3008_*3009insACCC
others(110): Show 
c.*3008_*3009insACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGT
CCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCACCCCCTCCTCCCTGTGGGTCCGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3009 INFO_REALIGN_3_PRIME chr1 2309677
chr1:2309677 TCCTCCTC
others(31): Show 
TCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCC
 T
T
 3 a0001c0001t0013
a0001c0001t0060
a0001c0001t0077
a0001c0001t0013
a0001c0001t0060
a0001c0001t0077
 8 HG00735.hp2
HG01070.hp2
HG01261.hp1
others(5): Show 
HG00735.hp2
HG01070.hp2
HG01261.hp1
HG02004.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
NA19079.hp2
 3_prime_UTR_variant MODIFIER c.*2971_*3008delACCC
others(34): Show 
c.*2971_*3008delACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGT
CCGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2971 INFO_REALIGN_3_PRIME chr1 2309677
chr1:2309704 G
G
 GCCCCCCC
others(108): Show 
GCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCC
CCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGT
GGGTCCGAACCCCGGC
 1 a0001c0001t0065
a0001c0001t0065
 1 HG03942.hp2
HG03942.hp2
 3_prime_UTR_variant MODIFIER c.*3008_*3009insACCC
others(111): Show 
c.*3008_*3009insACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGT
CCGAACCCCGGCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGG
CCCCCCCACCCCCTCCTCCCTGTGGGTCCGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3009 INFO_REALIGN_3_PRIME chr1 2309704
chr1:2309704 GCCCCCCC
others(111): Show 
GCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCC
CCTCCTCCCTGTGGGTCCGATCCCCGGCCCCCCCCACCCCCTCCTCCCTG
TGGGTCCGAACCCCGGCCC
 G
G
 1 a0001c0001t0062
a0001c0001t0062
 1 HG02622.hp2
HG02622.hp2
 3_prime_UTR_variant MODIFIER c.*2990_*3107del
c.*2990_*3107del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2990 INFO_REALIGN_3_PRIME chr1 2309704
chr1:2309712 A
A
 C
C
 1 a0003c0013t0032
a0003c0013t0032
 1 HG03654.hp2
HG03654.hp2
 3_prime_UTR_variant MODIFIER c.*2947A>C
c.*2947A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2947 chr1 2309712
chr1:2309744 C
C
 CCCCCCCC
others(77): Show 
CCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCCAC
CCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCA
 2 a0001c0001t0016
a0001c0001t0033
a0001c0001t0016
a0001c0001t0033
 4 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2984_*2985insCCAC
others(80): Show 
c.*2984_*2985insCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCACCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 2985 INFO_REALIGN_3_PRIME chr1 2309744
chr1:2309774 T
T
 A
A
 7 a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
others(4): Show 
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0034
a0001c0001t0041
a0001c0001t0083
 9 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(6): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3009T>A
c.*3009T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3009 chr1 2309774
chr1:2309780 G
G
 GC
GC
 57 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(54): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0009
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0019
a0001c0001t0020
a0001c0001t0022
a0001c0001t0024
a0001c0001t0026
a0001c0001t0027
a0001c0001t0030
a0001c0001t0031
a0001c0001t0033
a0001c0001t0035
a0001c0001t0037
a0001c0001t0038
a0001c0001t0042
a0001c0001t0044
a0001c0001t0047
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0061
a0001c0001t0063
a0001c0001t0067
a0001c0001t0072
a0001c0001t0075
a0001c0001t0077
a0001c0001t0081
a0001c0001t0082
a0001c0001t0085
a0001c0001t0087
a0001c0003t0001
a0001c0003t0007
a0001c0003t0009
a0001c0003t0020
a0001c0005t0003
a0001c0006t0040
a0001c0007t0078
a0001c0009t0004
a0001c0010t0048
a0001c0011t0039
a0001c0014t0001
a0002c0002t0002
a0002c0002t0022
a0002c0004t0001
a0002c0004t0002
a0002c0015t0002
 226 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(223): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*3023dupC
c.*3023dupC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 G
G
 GCC
GCC
 19 a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
others(16): Show 
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0014
a0001c0001t0018
a0001c0001t0021
a0001c0001t0023
a0001c0001t0036
a0001c0001t0059
a0001c0001t0060
a0001c0001t0068
a0001c0001t0069
a0001c0001t0076
a0001c0001t0079
a0001c0001t0088
a0001c0008t0021
a0001c0012t0011
a0002c0002t0011
a0003c0013t0032
 40 HG00621.hp1
HG00642.hp2
HG00673.hp2
others(37): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01123.hp2
HG01257.hp2
HG01884.hp2
HG01952.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp2
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03927.hp1
HG04115.hp1
NA18522.hp2
NA18950.hp2
NA18980.hp1
NA18991.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19088.hp2
NA20129.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*3022_*3023dupCC
c.*3022_*3023dupCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 G
G
 GCCCCCCC
others(35): Show 
GCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC
 1 a0001c0001t0049
a0001c0001t0049
 1 HG04199.hp1
HG04199.hp1
 3_prime_UTR_variant MODIFIER c.*3023_*3024insCACC
others(38): Show 
c.*3023_*3024insCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC
CCCCCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 G
G
 GCCCCCCC
others(116): Show 
GCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCC
ACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCACCCCCACCCCCTC
CTCCCTGTGGGTCCGAACCCCGGC
 2 a0001c0001t0028
a0001c0001t0034
a0001c0001t0028
a0001c0001t0034
 2 HG06807.hp1
NA21309.hp2
HG06807.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3023_*3024insCACC
others(119): Show 
c.*3023_*3024insCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC
CCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCACCCCCA
CCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 G
G
 GCCCCCCC
others(117): Show 
GCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCC
CACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCACCCCCACCCCCT
CCTCCCTGTGGGTCCGAACCCCGGC
 1 a0001c0001t0029
a0001c0001t0029
 1 HG03516.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*3023_*3024insCACC
others(120): Show 
c.*3023_*3024insCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC
CCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCACCCCC
ACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 G
G
 GCCCCCCC
others(37): Show 
GCCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCC
 1 a0001c0001t0053
a0001c0001t0053
 1 HG02071.hp1
HG02071.hp1
 3_prime_UTR_variant MODIFIER c.*3023_*3024insCCAC
others(40): Show 
c.*3023_*3024insCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309780 GCCCCCCC
others(33): Show 
GCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
 G
G
 2 a0001c0001t0041
a0001c0001t0083
a0001c0001t0041
a0001c0001t0083
 2 HG03486.hp2
homoSapiens_chm13v2.hp1
HG03486.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3024_*3063delACCC
others(36): Show 
c.*3024_*3063delACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCC
CCCCCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 INFO_REALIGN_3_PRIME chr1 2309780
chr1:2309789 A
A
 C
C
 5 a0001c0001t0054
a0001c0001t0070
a0001c0001t0073
others(2): Show 
a0001c0001t0054
a0001c0001t0070
a0001c0001t0073
a0001c0001t0086
a0002c0002t0055
 5 HG00642.hp1
HG01928.hp2
HG03017.hp2
others(2): Show 
HG00642.hp1
HG01928.hp2
HG03017.hp2
HG03139.hp2
NA19000.hp1
 3_prime_UTR_variant MODIFIER c.*3024A>C
c.*3024A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3024 chr1 2309789
chr1:2309811 G
G
 A
A
 1 a0001c0001t0047
a0001c0001t0047
 1 HG03579.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*3046G>A
c.*3046G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3046 chr1 2309811
chr1:2309813 A
A
 T
T
 1 a0001c0001t0052
a0001c0001t0052
 1 NA19064.hp1
NA19064.hp1
 3_prime_UTR_variant MODIFIER c.*3048A>T
c.*3048A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3048 chr1 2309813
chr1:2309819 G
G
 GC
GC
 23 a0001c0001t0007
a0001c0001t0016
a0001c0001t0017
others(20): Show 
a0001c0001t0007
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0029
a0001c0001t0034
a0001c0001t0037
a0001c0001t0042
a0001c0001t0044
a0001c0001t0046
a0001c0001t0049
a0001c0001t0050
a0001c0001t0059
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0080
a0001c0003t0007
a0002c0002t0055
 39 HG00621.hp2
HG00642.hp1
HG00735.hp1
others(36): Show 
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG01243.hp2
HG01978.hp1
HG02258.hp1
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02896.hp2
HG02922.hp2
HG03139.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18947.hp2
NA18964.hp2
NA18977.hp1
NA18979.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3064dupC
c.*3064dupC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3065 INFO_REALIGN_3_PRIME chr1 2309819
chr1:2309819 GC
GC
 G
G
 24 a0001c0001t0002
a0001c0001t0004
a0001c0001t0010
others(21): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0010
a0001c0001t0014
a0001c0001t0019
a0001c0001t0021
a0001c0001t0027
a0001c0001t0031
a0001c0001t0047
a0001c0001t0052
a0001c0001t0057
a0001c0001t0058
a0001c0001t0077
a0001c0001t0084
a0001c0001t0085
a0001c0001t0087
a0001c0001t0088
a0001c0007t0078
a0001c0008t0021
a0001c0009t0004
a0001c0011t0039
a0002c0002t0002
a0002c0004t0002
a0002c0015t0002
 93 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01074.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18947.hp1
NA18956.hp2
NA18962.hp1
NA18971.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18990.hp2
NA18998.hp2
NA19011.hp1
NA19011.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*3064delC
c.*3064delC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3064 INFO_REALIGN_3_PRIME chr1 2309819
chr1:2309830 A
A
 C
C
 2 a0001c0001t0051
a0001c0001t0053
a0001c0001t0051
a0001c0001t0053
 2 HG02071.hp1
HG03927.hp2
HG02071.hp1
HG03927.hp2
 3_prime_UTR_variant MODIFIER c.*3065A>C
c.*3065A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3065 chr1 2309830
chr1:2309905 C
C
 T
T
 4 a0001c0001t0024
a0001c0001t0026
a0001c0001t0067
others(1): Show 
a0001c0001t0024
a0001c0001t0026
a0001c0001t0067
a0001c0010t0048
 6 HG02572.hp2
HG02622.hp1
HG02886.hp2
others(3): Show 
HG02572.hp2
HG02622.hp1
HG02886.hp2
HG03516.hp2
NA19030.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*3140C>T
c.*3140C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3140 chr1 2309905
chr1:2309937 C
C
 CT
CT
 37 a0001c0001t0002
a0001c0001t0003
a0001c0001t0010
others(34): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0010
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0021
a0001c0001t0027
a0001c0001t0031
a0001c0001t0035
a0001c0001t0036
a0001c0001t0046
a0001c0001t0047
a0001c0001t0051
a0001c0001t0054
a0001c0001t0057
a0001c0001t0068
a0001c0001t0077
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0087
a0001c0001t0088
a0001c0005t0003
a0001c0007t0078
a0001c0008t0021
a0001c0011t0039
a0001c0012t0011
a0002c0002t0002
a0002c0002t0011
a0002c0002t0043
a0002c0004t0002
a0002c0015t0002
a0003c0013t0032
 125 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(122): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp1
HG03927.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA19002.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3182dupT
c.*3182dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3183 INFO_REALIGN_3_PRIME chr1 2309937
chr1:2309937 C
C
 CTT
CTT
 43 a0001c0001t0001
a0001c0001t0004
a0001c0001t0005
others(40): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0026
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0034
a0001c0001t0037
a0001c0001t0038
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0056
a0001c0001t0058
a0001c0001t0059
a0001c0001t0060
a0001c0001t0061
a0001c0001t0063
a0001c0001t0075
a0001c0001t0076
a0001c0001t0079
a0001c0003t0001
a0001c0003t0007
a0001c0006t0040
a0001c0009t0004
a0001c0010t0048
a0001c0014t0001
a0002c0002t0022
a0002c0002t0055
a0002c0004t0001
 152 HG00099.hp1
HG00438.hp1
HG00609.hp1
others(149): Show 
HG00099.hp1
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18950.hp2
NA18956.hp1
NA18956.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp2
NA18991.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3181_*3182dupTT
c.*3181_*3182dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3183 INFO_REALIGN_3_PRIME chr1 2309937
chr1:2309987 C
C
 T
T
 1 a0001c0001t0050
a0001c0001t0050
 1 HG02258.hp1
HG02258.hp1
 3_prime_UTR_variant MODIFIER c.*3222C>T
c.*3222C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3222 chr1 2309987
chr1:2310027 C
C
 T
T
 1 a0001c0001t0079
a0001c0001t0079
 1 NA18950.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*3262C>T
c.*3262C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 7/7 3262 chr1 2310027

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
chr1:2229788 C
C
 T
T
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+53C>T
c.969+53C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2229788
chr1:2229797 C
C
 T
T
 1 a0001c0001t0006g0324
a0001c0001t0006g0324
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.969+62C>T
c.969+62C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2229797
chr1:2229923 G
G
 A
A
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.969+188G>A
c.969+188G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2229923
chr1:2230045 A
A
 C
C
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.969+310A>C
c.969+310A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230045
chr1:2230051 C
C
 T
T
 59 a0001c0001t0001g0004
a0001c0001t0001g0271
a0001c0001t0001g0278
others(56): Show 
a0001c0001t0001g0004
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0024g0005
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0007t0078g0269
 59 HG00323.hp1
HG00609.hp2
HG01074.hp1
others(56): Show 
HG00323.hp1
HG00609.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18977.hp1
NA18983.hp2
NA18984.hp1
NA19002.hp2
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA20300.hp2
 intron_variant MODIFIER c.969+316C>T
c.969+316C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230051
chr1:2230058 C
C
 T
T
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+323C>T
c.969+323C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230058
chr1:2230137 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+402C>T
c.969+402C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230137
chr1:2230187 C
C
 T
T
 1 a0001c0001t0031g0321
a0001c0001t0031g0321
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.969+452C>T
c.969+452C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230187
chr1:2230199 G
G
 C
C
 7 a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0008
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0077g0011
 7 NA18945.hp1
NA18956.hp1
NA18982.hp2
others(4): Show 
NA18945.hp1
NA18956.hp1
NA18982.hp2
NA19064.hp1
NA19068.hp2
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.969+464G>C
c.969+464G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230199
chr1:2230345 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+610C>T
c.969+610C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230345
chr1:2230445 C
C
 G
G
 5 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(2): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
 6 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(3): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+710C>G
c.969+710C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230445
chr1:2230447 C
C
 A
A
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.969+712C>A
c.969+712C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230447
chr1:2230526 C
C
 T
T
 1 a0001c0001t0085g0263
a0001c0001t0085g0263
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.969+791C>T
c.969+791C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230526
chr1:2230947 G
G
 C
C
 2 a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0003t0020g0014
a0001c0003t0020g0015
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.969+1212G>C
c.969+1212G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230947
chr1:2230953 C
C
 T
T
 1 a0001c0001t0036g0262
a0001c0001t0036g0262
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.969+1218C>T
c.969+1218C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230953
chr1:2230975 A
A
 C
C
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+1240A>C
c.969+1240A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2230975
chr1:2231034 C
C
 T
T
 34 a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
others(31): Show 
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0004g0260
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0012g0258
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0024g0005
a0001c0001t0026g0295
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
 34 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(31): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+1299C>T
c.969+1299C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231034
chr1:2231132 G
G
 T
T
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+1397G>T
c.969+1397G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231132
chr1:2231193 G
G
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.969+1458G>A
c.969+1458G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231193
chr1:2231217 C
C
 CCA
CCA
 48 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(45): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
 48 HG00438.hp1
HG00621.hp1
HG01123.hp2
others(45): Show 
HG00438.hp1
HG00621.hp1
HG01123.hp2
HG01884.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02572.hp2
HG02818.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03688.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+1485_969+1486d
others(4): Show 
c.969+1485_969+1486dupCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2231217
chr1:2231358 G
G
 A
A
 1 a0001c0001t0044g0292
a0001c0001t0044g0292
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.969+1623G>A
c.969+1623G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231358
chr1:2231505 C
C
 T
T
 65 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(62): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0008t0021g0252
 65 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02735.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+1770C>T
c.969+1770C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231505
chr1:2231540 A
A
 G
G
 1 a0001c0001t0003g0191
a0001c0001t0003g0191
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.969+1805A>G
c.969+1805A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231540
chr1:2231568 A
A
 G
G
 66 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(63): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 68 HG00438.hp1
HG00621.hp1
HG00642.hp1
others(65): Show 
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+1833A>G
c.969+1833A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231568
chr1:2231664 A
A
 G
G
 3 a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0042g0319
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0042g0319
 3 HG02258.hp2
HG03834.hp1
NA19002.hp2
HG02258.hp2
HG03834.hp1
NA19002.hp2
 intron_variant MODIFIER c.969+1929A>G
c.969+1929A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231664
chr1:2231789 C
C
 T
T
 1 a0003c0013t0032g0178
a0003c0013t0032g0178
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.969+2054C>T
c.969+2054C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231789
chr1:2231851 C
C
 T
T
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.969+2116C>T
c.969+2116C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2231851
chr1:2232056 C
C
 T
T
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.969+2321C>T
c.969+2321C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232056
chr1:2232091 G
G
 T
T
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.969+2356G>T
c.969+2356G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232091
chr1:2232129 C
C
 T
T
 154 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(151): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0073g0216
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0014t0001g0174
 154 HG00099.hp1
HG00280.hp1
HG00423.hp2
others(151): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+2394C>T
c.969+2394C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232129
chr1:2232288 G
G
 A
A
 1 a0001c0001t0004g0017
a0001c0001t0004g0017
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.969+2553G>A
c.969+2553G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232288
chr1:2232325 T
T
 A
A
 1 a0001c0001t0011g0264
a0001c0001t0011g0264
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.969+2590T>A
c.969+2590T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232325
chr1:2232414 G
G
 A
A
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+2679G>A
c.969+2679G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232414
chr1:2232677 T
T
 C
C
 168 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(165): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0014t0001g0174
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+2942T>C
c.969+2942T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232677
chr1:2232941 C
C
 T
T
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+3206C>T
c.969+3206C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2232941
chr1:2233032 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.969+3297G>A
c.969+3297G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233032
chr1:2233061 G
G
 A
A
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.969+3326G>A
c.969+3326G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233061
chr1:2233181 C
C
 T
T
 2 a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0013g0176
a0001c0001t0013g0177
 2 HG00735.hp2
HG01261.hp1
HG00735.hp2
HG01261.hp1
 intron_variant MODIFIER c.969+3446C>T
c.969+3446C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233181
chr1:2233199 C
C
 T
T
 3 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
 3 HG03516.hp1
NA19043.hp1
NA21309.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+3464C>T
c.969+3464C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233199
chr1:2233236 G
G
 C
C
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.969+3501G>C
c.969+3501G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233236
chr1:2233260 C
C
 T
T
 76 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(73): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 76 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+3525C>T
c.969+3525C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233260
chr1:2233261 G
G
 A
A
 37 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(34): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0018g0028
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
 37 HG00438.hp1
HG00621.hp1
HG01123.hp2
others(34): Show 
HG00438.hp1
HG00621.hp1
HG01123.hp2
HG02004.hp2
HG02155.hp1
HG02165.hp1
HG02818.hp1
HG03516.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA21309.hp2
 intron_variant MODIFIER c.969+3526G>A
c.969+3526G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233261
chr1:2233315 G
G
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+3580G>A
c.969+3580G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233315
chr1:2233333 G
G
 A
A
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+3598G>A
c.969+3598G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233333
chr1:2233384 G
G
 T
T
 28 a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
others(25): Show 
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0003t0001g0175
 28 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(25): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+3649G>T
c.969+3649G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233384
chr1:2233496 G
G
 T
T
 233 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(230): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 235 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(232): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+3761G>T
c.969+3761G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233496
chr1:2233631 T
T
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+3896T>A
c.969+3896T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233631
chr1:2233908 T
T
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+4173T>C
c.969+4173T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233908
chr1:2233909 G
G
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+4174G>T
c.969+4174G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2233909
chr1:2234008 T
T
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+4273T>C
c.969+4273T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234008
chr1:2234038 C
C
 A
A
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.969+4303C>A
c.969+4303C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234038
chr1:2234084 G
G
 A
A
 49 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(46): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0268
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
 49 HG00438.hp1
HG00621.hp1
HG01123.hp2
others(46): Show 
HG00438.hp1
HG00621.hp1
HG01123.hp2
HG01884.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02572.hp2
HG02818.hp1
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03688.hp1
HG03704.hp2
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+4349G>A
c.969+4349G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234084
chr1:2234129 G
G
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+4394G>T
c.969+4394G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234129
chr1:2234141 G
G
 A
A
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.969+4406G>A
c.969+4406G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234141
chr1:2234154 G
G
 C
C
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+4419G>C
c.969+4419G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234154
chr1:2234182 C
C
 T
T
 48 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(45): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
 48 HG00438.hp1
HG00621.hp1
HG01123.hp2
others(45): Show 
HG00438.hp1
HG00621.hp1
HG01123.hp2
HG01884.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02572.hp2
HG02818.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03688.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+4447C>T
c.969+4447C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234182
chr1:2234381 G
G
 A
A
 3 a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0060g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0060g0058
 3 HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
 intron_variant MODIFIER c.969+4646G>A
c.969+4646G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234381
chr1:2234479 G
G
 C
C
 66 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(63): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 68 HG00438.hp1
HG00621.hp1
HG00642.hp1
others(65): Show 
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+4744G>C
c.969+4744G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234479
chr1:2234512 G
G
 C
C
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+4777G>C
c.969+4777G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234512
chr1:2234531 C
C
 T
T
 1 a0001c0001t0002g0320
a0001c0001t0002g0320
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.969+4796C>T
c.969+4796C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234531
chr1:2234687 G
G
 C
C
 1 a0001c0001t0003g0270
a0001c0001t0003g0270
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.969+4952G>C
c.969+4952G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234687
chr1:2234922 G
G
 C
C
 5 a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0006g0065
others(2): Show 
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0009t0004g0064
 5 HG01978.hp1
HG02074.hp2
NA18967.hp1
others(2): Show 
HG01978.hp1
HG02074.hp2
NA18967.hp1
NA18995.hp1
NA18998.hp2
 intron_variant MODIFIER c.969+5187G>C
c.969+5187G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234922
chr1:2234947 T
T
 C
C
 1 a0001c0001t0023g0091
a0001c0001t0023g0091
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.969+5212T>C
c.969+5212T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234947
chr1:2234967 C
C
 T
T
 8 a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0003g0251
others(5): Show 
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0003g0251
a0001c0001t0004g0248
a0001c0001t0005g0253
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0008t0021g0252
 8 HG00733.hp1
HG01070.hp1
HG01981.hp1
others(5): Show 
HG00733.hp1
HG01070.hp1
HG01981.hp1
HG01993.hp1
HG02273.hp1
HG02486.hp1
HG03239.hp2
NA20805.hp2
 intron_variant MODIFIER c.969+5232C>T
c.969+5232C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234967
chr1:2234971 T
T
 C
C
 266 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(263): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 268 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(265): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+5236T>C
c.969+5236T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2234971
chr1:2235029 G
G
 GT
GT
 51 a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0026
others(48): Show 
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0166
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0204
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0014t0001g0174
 51 HG00438.hp1
HG00621.hp1
HG01123.hp2
others(48): Show 
HG00438.hp1
HG00621.hp1
HG01123.hp2
HG01346.hp1
HG01361.hp1
HG01884.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02572.hp2
HG02818.hp1
HG02897.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03688.hp1
HG03831.hp2
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+5303dupT
c.969+5303dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2235029
chr1:2235045 A
A
 AT
AT
 165 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(162): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0014t0001g0174
 165 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(162): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+5325dupT
c.969+5325dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2235045
chr1:2235068 G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+5333G>A
c.969+5333G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235068
chr1:2235128 C
C
 T
T
 10 a0001c0001t0001g0165
a0001c0001t0003g0158
a0001c0001t0003g0163
others(7): Show 
a0001c0001t0001g0165
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0007g0162
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0054g0159
a0001c0001t0082g0156
 10 HG01081.hp1
HG01928.hp2
HG01952.hp1
others(7): Show 
HG01081.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02027.hp2
HG02273.hp2
HG02300.hp2
NA18612.hp1
NA19011.hp2
 intron_variant MODIFIER c.969+5393C>T
c.969+5393C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235128
chr1:2235154 T
T
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+5419T>C
c.969+5419T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235154
chr1:2235155 G
G
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+5420G>T
c.969+5420G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235155
chr1:2235156 C
C
 G
G
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+5421C>G
c.969+5421C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235156
chr1:2235168 G
G
 GT
GT
 233 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(230): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 235 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(232): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+5433_969+5434i
others(3): Show 
c.969+5433_969+5434insT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235168
chr1:2235329 C
C
 G
G
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+5594C>G
c.969+5594C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235329
chr1:2235370 C
C
 T
T
 66 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(63): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 68 HG00438.hp1
HG00621.hp1
HG00642.hp1
others(65): Show 
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+5635C>T
c.969+5635C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235370
chr1:2235430 C
C
 T
T
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.969+5695C>T
c.969+5695C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235430
chr1:2235516 C
C
 T
T
 1 a0001c0001t0016g0317
a0001c0001t0016g0317
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.969+5781C>T
c.969+5781C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235516
chr1:2235650 TGGGGGGC
others(5): Show 
TGGGGGGCCCAGG
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.969+5917_969+5928d
others(14): Show 
c.969+5917_969+5928delGGGGGCCCAGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2235650
chr1:2235710 C
C
 T
T
 162 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(159): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0014t0001g0174
 162 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(159): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+5975C>T
c.969+5975C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235710
chr1:2235868 T
T
 A
A
 1 a0001c0001t0017g0272
a0001c0001t0017g0272
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.969+6133T>A
c.969+6133T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2235868
chr1:2236091 G
G
 A
A
 33 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(30): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0018g0028
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
 33 HG00438.hp1
HG00621.hp1
HG02004.hp2
others(30): Show 
HG00438.hp1
HG00621.hp1
HG02004.hp2
HG02155.hp1
HG02165.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.969+6356G>A
c.969+6356G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236091
chr1:2236258 C
C
 T
T
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.969+6523C>T
c.969+6523C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236258
chr1:2236553 C
C
 T
T
 9 a0001c0001t0001g0240
a0001c0001t0002g0242
a0001c0001t0003g0241
others(6): Show 
a0001c0001t0001g0240
a0001c0001t0002g0242
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0008g0239
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0059g0244
 9 HG00544.hp2
HG00621.hp2
NA18947.hp1
others(6): Show 
HG00544.hp2
HG00621.hp2
NA18947.hp1
NA18954.hp2
NA18983.hp1
NA19068.hp1
NA19074.hp2
NA19088.hp2
NA19090.hp1
 intron_variant MODIFIER c.969+6818C>T
c.969+6818C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236553
chr1:2236689 G
G
 A
A
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.969+6954G>A
c.969+6954G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236689
chr1:2236692 A
A
 T
T
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.969+6957A>T
c.969+6957A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236692
chr1:2236713 A
A
 T
T
 1 a0001c0001t0016g0317
a0001c0001t0016g0317
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.969+6978A>T
c.969+6978A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236713
chr1:2236893 C
C
 T
T
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+7158C>T
c.969+7158C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236893
chr1:2236920 G
G
 A
A
 4 a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0012g0067
others(1): Show 
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0012g0067
a0001c0001t0017g0068
 4 HG00738.hp2
HG01346.hp2
HG01361.hp1
others(1): Show 
HG00738.hp2
HG01346.hp2
HG01361.hp1
HG02896.hp2
 intron_variant MODIFIER c.969+7185G>A
c.969+7185G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2236920
chr1:2237003 G
G
 A
A
 1 a0001c0001t0074g0192
a0001c0001t0074g0192
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.969+7268G>A
c.969+7268G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237003
chr1:2237016 A
A
 G
G
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.969+7281A>G
c.969+7281A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237016
chr1:2237020 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.969+7285C>T
c.969+7285C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237020
chr1:2237165 C
C
 T
T
 65 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(62): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 67 HG00438.hp1
HG00621.hp1
HG00642.hp1
others(64): Show 
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG02004.hp2
HG02109.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03688.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+7430C>T
c.969+7430C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237165
chr1:2237200 C
C
 T
T
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.969+7465C>T
c.969+7465C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237200
chr1:2237210 G
G
 A
A
 2 a0001c0001t0008g0193
a0001c0014t0001g0174
a0001c0001t0008g0193
a0001c0014t0001g0174
 2 HG02897.hp1
NA18945.hp2
HG02897.hp1
NA18945.hp2
 intron_variant MODIFIER c.969+7475G>A
c.969+7475G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237210
chr1:2237274 C
C
 T
T
 22 a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
others(19): Show 
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0065g0312
 22 HG00323.hp1
HG01074.hp1
HG01169.hp2
others(19): Show 
HG00323.hp1
HG01074.hp1
HG01169.hp2
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+7539C>T
c.969+7539C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237274
chr1:2237377 C
C
 T
T
 1 a0001c0001t0013g0177
a0001c0001t0013g0177
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.969+7642C>T
c.969+7642C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237377
chr1:2237640 C
C
 T
T
 138 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(135): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 140 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+7905C>T
c.969+7905C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237640
chr1:2237776 G
G
 A
A
 92 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(89): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 92 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+8041G>A
c.969+8041G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237776
chr1:2237918 A
A
 G
G
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+8183A>G
c.969+8183A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237918
chr1:2237941 A
A
 G
G
 8 a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
others(5): Show 
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0017g0287
a0001c0001t0057g0288
a0001c0007t0078g0269
 8 HG00609.hp2
NA18946.hp1
NA19007.hp2
others(5): Show 
HG00609.hp2
NA18946.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.969+8206A>G
c.969+8206A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2237941
chr1:2238140 A
A
 C
C
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.969+8405A>C
c.969+8405A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238140
chr1:2238217 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+8482C>T
c.969+8482C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238217
chr1:2238256 G
G
 T
T
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.969+8521G>T
c.969+8521G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238256
chr1:2238353 C
C
 T
T
 65 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(62): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0008t0021g0252
 65 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02735.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+8618C>T
c.969+8618C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238353
chr1:2238390 C
C
 G
G
 1 a0001c0001t0086g0286
a0001c0001t0086g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.969+8655C>G
c.969+8655C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238390
chr1:2238552 G
G
 A
A
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.969+8817G>A
c.969+8817G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238552
chr1:2238621 G
G
 A
A
 138 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(135): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 140 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+8886G>A
c.969+8886G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238621
chr1:2238696 G
G
 A
A
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.969+8961G>A
c.969+8961G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238696
chr1:2238750 G
G
 A
A
 1 a0001c0001t0005g0207
a0001c0001t0005g0207
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.969+9015G>A
c.969+9015G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238750
chr1:2238780 G
G
 A
A
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.969+9045G>A
c.969+9045G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238780
chr1:2238792 C
C
 T
T
 113 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(110): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+9057C>T
c.969+9057C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238792
chr1:2238887 G
G
 A
A
 1 a0001c0001t0004g0006
a0001c0001t0004g0006
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.969+9152G>A
c.969+9152G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238887
chr1:2238941 C
C
 T
T
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+9206C>T
c.969+9206C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2238941
chr1:2239010 C
C
 T
T
 3 a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0001t0016g0317
 3 HG02922.hp2
HG03225.hp1
NA18906.hp1
HG02922.hp2
HG03225.hp1
NA18906.hp1
 intron_variant MODIFIER c.969+9275C>T
c.969+9275C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239010
chr1:2239033 T
T
 C
C
 117 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(114): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
 117 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(114): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+9298T>C
c.969+9298T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239033
chr1:2239078 C
C
 G
G
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.969+9343C>G
c.969+9343C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239078
chr1:2239388 C
C
 A
A
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.969+9653C>A
c.969+9653C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239388
chr1:2239503 G
G
 C
C
 1 a0001c0001t0025g0238
a0001c0001t0025g0238
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.969+9768G>C
c.969+9768G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239503
chr1:2239505 T
T
 G
G
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+9770T>G
c.969+9770T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239505
chr1:2239531 G
G
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+9796G>A
c.969+9796G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239531
chr1:2239547 C
C
 T
T
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.969+9812C>T
c.969+9812C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239547
chr1:2239600 C
C
 T
T
 2 a0001c0001t0002g0318
a0001c0001t0042g0319
a0001c0001t0002g0318
a0001c0001t0042g0319
 2 HG03834.hp1
NA19002.hp2
HG03834.hp1
NA19002.hp2
 intron_variant MODIFIER c.969+9865C>T
c.969+9865C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239600
chr1:2239606 G
G
 T
T
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.969+9871G>T
c.969+9871G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239606
chr1:2239638 G
G
 A
A
 6 a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
others(3): Show 
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
 6 HG00642.hp1
HG01243.hp1
HG01891.hp2
others(3): Show 
HG00642.hp1
HG01243.hp1
HG01891.hp2
HG02647.hp2
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.969+9903G>A
c.969+9903G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239638
chr1:2239654 T
T
 C
C
 2 a0001c0001t0002g0301
a0001c0001t0006g0300
a0001c0001t0002g0301
a0001c0001t0006g0300
 2 HG01074.hp1
HG04184.hp2
HG01074.hp1
HG04184.hp2
 intron_variant MODIFIER c.969+9919T>C
c.969+9919T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239654
chr1:2239706 C
C
 T
T
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.969+9971C>T
c.969+9971C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239706
chr1:2239828 G
G
 T
T
 1 a0001c0001t0016g0267
a0001c0001t0016g0267
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.969+10093G>T
c.969+10093G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239828
chr1:2239987 G
G
 A
A
 2 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0020
a0001c0001t0001g0021
 2 NA18946.hp2
NA19007.hp1
NA18946.hp2
NA19007.hp1
 intron_variant MODIFIER c.969+10252G>A
c.969+10252G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2239987
chr1:2240198 G
G
 C
C
 146 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(143): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 148 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(145): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+10463G>C
c.969+10463G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240198
chr1:2240321 G
G
 A
A
 1 a0001c0001t0008g0107
a0001c0001t0008g0107
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.969+10586G>A
c.969+10586G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240321
chr1:2240376 G
G
 C
C
 1 a0001c0001t0086g0286
a0001c0001t0086g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.969+10641G>C
c.969+10641G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240376
chr1:2240395 C
C
 T
T
 1 a0001c0001t0042g0319
a0001c0001t0042g0319
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.969+10660C>T
c.969+10660C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240395
chr1:2240544 C
C
 T
T
 138 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(135): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 140 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+10809C>T
c.969+10809C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240544
chr1:2240663 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+10928C>T
c.969+10928C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240663
chr1:2240778 T
T
 C
C
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.969+11043T>C
c.969+11043T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240778
chr1:2240802 G
G
 A
A
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+11067G>A
c.969+11067G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240802
chr1:2240993 C
C
 T
T
 3 a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
 3 HG02109.hp2
HG03209.hp2
NA21309.hp1
HG02109.hp2
HG03209.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+11258C>T
c.969+11258C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240993
chr1:2240998 G
G
 T
T
 1 a0001c0001t0002g0320
a0001c0001t0002g0320
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.969+11263G>T
c.969+11263G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2240998
chr1:2241066 A
A
 G
G
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+11331A>G
c.969+11331A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241066
chr1:2241212 T
T
 C
C
 1 a0001c0001t0007g0302
a0001c0001t0007g0302
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.969+11477T>C
c.969+11477T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241212
chr1:2241347 A
A
 G
G
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+11612A>G
c.969+11612A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241347
chr1:2241358 T
T
 C
C
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+11623T>C
c.969+11623T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241358
chr1:2241410 T
T
 C
C
 1 a0001c0001t0017g0287
a0001c0001t0017g0287
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.969+11675T>C
c.969+11675T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241410
chr1:2241462 C
C
 T
T
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.969+11727C>T
c.969+11727C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241462
chr1:2241478 T
T
 C
C
 92 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(89): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 92 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+11743T>C
c.969+11743T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241478
chr1:2241480 T
T
 C
C
 92 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(89): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 92 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+11745T>C
c.969+11745T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241480
chr1:2241507 C
C
 T
T
 1 a0001c0001t0005g0153
a0001c0001t0005g0153
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.969+11772C>T
c.969+11772C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241507
chr1:2241549 T
T
 C
C
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+11814T>C
c.969+11814T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241549
chr1:2241554 G
G
 A
A
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+11819G>A
c.969+11819G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241554
chr1:2241617 TCTC
TCTC
 T
T
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+11885_969+1188
others(7): Show 
c.969+11885_969+11887delCCT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2241617
chr1:2241629 G
G
 A
A
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+11894G>A
c.969+11894G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241629
chr1:2241636 G
G
 A
A
 1 a0001c0001t0057g0288
a0001c0001t0057g0288
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.969+11901G>A
c.969+11901G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241636
chr1:2241688 C
C
 T
T
 2 a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0003g0290
a0001c0001t0003g0291
 2 NA19007.hp2
NA19067.hp2
NA19007.hp2
NA19067.hp2
 intron_variant MODIFIER c.969+11953C>T
c.969+11953C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241688
chr1:2241715 A
A
 G
G
 1 a0001c0001t0006g0065
a0001c0001t0006g0065
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.969+11980A>G
c.969+11980A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241715
chr1:2241740 A
A
 G
G
 118 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(115): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
 118 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+12005A>G
c.969+12005A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241740
chr1:2241804 A
A
 G
G
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.969+12069A>G
c.969+12069A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241804
chr1:2241916 C
C
 T
T
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+12181C>T
c.969+12181C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241916
chr1:2241949 C
C
 CTG
CTG
 102 a0001c0001t0001g0152
a0001c0001t0001g0195
a0001c0001t0001g0205
others(99): Show 
a0001c0001t0001g0152
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0162
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 102 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(99): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18940.hp1
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+12235_969+1223
others(6): Show 
c.969+12235_969+12236dupTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2241949
chr1:2241949 C
C
 CTGTG
CTGTG
 5 a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0003g0234
others(2): Show 
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0003g0234
a0001c0001t0019g0233
a0001c0001t0062g0257
 5 HG00741.hp1
HG00741.hp2
HG01081.hp1
others(2): Show 
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG02055.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+12233_969+1223
others(8): Show 
c.969+12233_969+12236dupTGTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2241949
chr1:2241949 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 C
C
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+12227_969+1223
others(14): Show 
c.969+12227_969+12236delTGTGTGTGTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2241949
chr1:2241970 T
T
 C
C
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.969+12235T>C
c.969+12235T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2241970
chr1:2242001 T
T
 C
C
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+12266T>C
c.969+12266T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242001
chr1:2242020 G
G
 T
T
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.969+12285G>T
c.969+12285G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242020
chr1:2242065 T
T
 C
C
 92 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(89): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 92 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+12330T>C
c.969+12330T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242065
chr1:2242080 C
C
 T
T
 8 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(5): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
 8 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02809.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.969+12345C>T
c.969+12345C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242080
chr1:2242291 C
C
 T
T
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.969+12556C>T
c.969+12556C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242291
chr1:2242372 C
C
 T
T
 5 a0001c0001t0004g0230
a0001c0001t0005g0228
a0001c0001t0005g0232
others(2): Show 
a0001c0001t0004g0230
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0014g0229
a0001c0001t0083g0231
 5 HG00099.hp1
HG01099.hp2
HG02109.hp1
others(2): Show 
HG00099.hp1
HG01099.hp2
HG02109.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+12637C>T
c.969+12637C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242372
chr1:2242385 G
G
 A
A
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.969+12650G>A
c.969+12650G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242385
chr1:2242522 C
C
 T
T
 7 a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
others(4): Show 
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
 7 HG01891.hp1
HG02630.hp1
HG02886.hp1
others(4): Show 
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.969+12787C>T
c.969+12787C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242522
chr1:2242710 T
T
 C
C
 5 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(2): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
 6 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(3): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+12975T>C
c.969+12975T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242710
chr1:2242761 C
C
 A
A
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.969+13026C>A
c.969+13026C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242761
chr1:2242812 A
A
 G
G
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.969+13077A>G
c.969+13077A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242812
chr1:2242997 A
A
 G
G
 1 a0001c0001t0006g0150
a0001c0001t0006g0150
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.969+13262A>G
c.969+13262A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2242997
chr1:2243052 C
C
 T
T
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
 7 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG06807.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+13317C>T
c.969+13317C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243052
chr1:2243234 G
G
 A
A
 1 a0001c0001t0020g0167
a0001c0001t0020g0167
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.969+13499G>A
c.969+13499G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243234
chr1:2243258 C
C
 T
T
 1 a0001c0003t0020g0015
a0001c0003t0020g0015
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.969+13523C>T
c.969+13523C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243258
chr1:2243273 T
T
 C
C
 326 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(323): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 329 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(326): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+13538T>C
c.969+13538T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243273
chr1:2243627 T
T
 C
C
 1 a0001c0001t0008g0239
a0001c0001t0008g0239
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.969+13892T>C
c.969+13892T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243627
chr1:2243722 G
G
 A
A
 1 a0001c0001t0003g0290
a0001c0001t0003g0290
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.969+13987G>A
c.969+13987G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243722
chr1:2243853 G
G
 A
A
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.969+14118G>A
c.969+14118G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2243853
chr1:2243956 T
T
 TTTTCTTT
others(1): Show 
TTTTCTTTC
 20 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(17): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 22 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(19): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+14237_969+1424
others(12): Show 
c.969+14237_969+14244dupCTTTCTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2243956
chr1:2244025 G
G
 A
A
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.969+14290G>A
c.969+14290G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244025
chr1:2244036 G
G
 C
C
 5 a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
others(2): Show 
a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
a0001c0001t0062g0257
a0001c0010t0048g0052
 5 HG01884.hp2
HG02572.hp2
HG02622.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02622.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+14301G>C
c.969+14301G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244036
chr1:2244058 C
C
 T
T
 1 a0001c0001t0056g0315
a0001c0001t0056g0315
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.969+14323C>T
c.969+14323C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244058
chr1:2244114 C
C
 T
T
 15 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(12): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 16 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(13): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA19082.hp1
 intron_variant MODIFIER c.969+14379C>T
c.969+14379C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244114
chr1:2244139 G
G
 A
A
 107 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(104): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 107 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(104): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+14404G>A
c.969+14404G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244139
chr1:2244176 A
A
 G
G
 1 a0001c0001t0001g0299
a0001c0001t0001g0299
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.969+14441A>G
c.969+14441A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244176
chr1:2244440 C
C
 T
T
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+14705C>T
c.969+14705C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244440
chr1:2244599 C
C
 T
T
 112 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(109): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 114 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(111): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+14864C>T
c.969+14864C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244599
chr1:2244687 T
T
 A
A
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+14952T>A
c.969+14952T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244687
chr1:2244722 C
C
 T
T
 113 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(110): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+14987C>T
c.969+14987C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244722
chr1:2244736 A
A
 G
G
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+15001A>G
c.969+15001A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244736
chr1:2244740 T
T
 G
G
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.969+15005T>G
c.969+15005T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244740
chr1:2244763 A
A
 G
G
 4 a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0087g0168
others(1): Show 
a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0087g0168
a0001c0014t0001g0174
 4 HG02897.hp1
HG02976.hp1
NA19030.hp1
others(1): Show 
HG02897.hp1
HG02976.hp1
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.969+15028A>G
c.969+15028A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244763
chr1:2244782 A
A
 G
G
 3 a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
 3 HG02109.hp2
HG03209.hp2
NA21309.hp1
HG02109.hp2
HG03209.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+15047A>G
c.969+15047A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244782
chr1:2244958 A
A
 G
G
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+15223A>G
c.969+15223A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2244958
chr1:2245122 C
C
 T
T
 15 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(12): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 16 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(13): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA19082.hp1
 intron_variant MODIFIER c.969+15387C>T
c.969+15387C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245122
chr1:2245179 G
G
 A
A
 2 a0001c0001t0002g0072
a0001c0001t0033g0073
a0001c0001t0002g0072
a0001c0001t0033g0073
 2 HG03098.hp2
HG03579.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.969+15444G>A
c.969+15444G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245179
chr1:2245259 C
C
 G
G
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+15524C>G
c.969+15524C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245259
chr1:2245286 C
C
 T
T
 1 a0001c0001t0023g0091
a0001c0001t0023g0091
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.969+15551C>T
c.969+15551C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245286
chr1:2245365 G
G
 A
A
 1 a0001c0001t0006g0065
a0001c0001t0006g0065
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.969+15630G>A
c.969+15630G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245365
chr1:2245414 T
T
 A
A
 1 a0001c0001t0070g0074
a0001c0001t0070g0074
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.969+15679T>A
c.969+15679T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245414
chr1:2245422 G
G
 C
C
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.969+15687G>C
c.969+15687G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245422
chr1:2245439 A
A
 G
G
 1 a0001c0001t0006g0324
a0001c0001t0006g0324
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.969+15704A>G
c.969+15704A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245439
chr1:2245526 G
G
 T
T
 4 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0009g0296
others(1): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0009g0296
a0001c0001t0058g0297
 4 HG01099.hp1
HG02559.hp1
HG02896.hp1
others(1): Show 
HG01099.hp1
HG02559.hp1
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.969+15791G>T
c.969+15791G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245526
chr1:2245560 C
C
 T
T
 3 a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0018g0149
a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0018g0149
 3 NA18944.hp2
NA19070.hp2
NA19080.hp2
NA18944.hp2
NA19070.hp2
NA19080.hp2
 intron_variant MODIFIER c.969+15825C>T
c.969+15825C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245560
chr1:2245578 C
C
 T
T
 8 a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0007g0086
others(5): Show 
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0007g0086
a0001c0001t0012g0067
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0049g0087
a0003c0013t0032g0178
 8 HG00735.hp1
HG00738.hp2
HG01257.hp2
others(5): Show 
HG00735.hp1
HG00738.hp2
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG02896.hp2
HG03654.hp2
HG04199.hp1
 intron_variant MODIFIER c.969+15843C>T
c.969+15843C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245578
chr1:2245631 A
A
 G
G
 4 a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0064g0311
others(1): Show 
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0064g0311
a0001c0001t0065g0312
 4 HG00323.hp1
HG01169.hp2
HG03704.hp1
others(1): Show 
HG00323.hp1
HG01169.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.969+15896A>G
c.969+15896A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245631
chr1:2245664 T
T
 TG
TG
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+15933dupG
c.969+15933dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245664
chr1:2245723 G
G
 A
A
 22 a0001c0001t0002g0049
a0001c0001t0002g0322
a0001c0001t0010g0047
others(19): Show 
a0001c0001t0002g0049
a0001c0001t0002g0322
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 24 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(21): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+15988G>A
c.969+15988G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245723
chr1:2245788 C
C
 CT
CT
 19 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0320
others(16): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0320
a0001c0001t0003g0191
a0001c0001t0006g0065
a0001c0001t0007g0302
a0001c0001t0009g0095
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0058g0297
a0001c0001t0065g0312
 19 HG01074.hp2
HG01243.hp2
HG02055.hp1
others(16): Show 
HG01074.hp2
HG01243.hp2
HG02055.hp1
HG02074.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03942.hp2
HG04199.hp1
NA18980.hp1
NA19084.hp1
 intron_variant MODIFIER c.969+16079dupT
c.969+16079dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245788 C
C
 CTT
CTT
 15 a0001c0001t0001g0148
a0001c0001t0001g0195
a0001c0001t0001g0271
others(12): Show 
a0001c0001t0001g0148
a0001c0001t0001g0195
a0001c0001t0001g0271
a0001c0001t0003g0022
a0001c0001t0003g0237
a0001c0001t0004g0008
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0006t0040g0053
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 15 HG00438.hp1
HG00642.hp2
HG01515.hp1
others(12): Show 
HG00438.hp1
HG00642.hp2
HG01515.hp1
HG02300.hp1
HG02486.hp2
HG03130.hp2
HG03225.hp2
HG03491.hp1
HG04115.hp2
NA18942.hp2
NA18977.hp2
NA18982.hp2
NA18998.hp1
NA19070.hp2
NA19081.hp2
 intron_variant MODIFIER c.969+16078_969+1607
others(6): Show 
c.969+16078_969+16079dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245788 C
C
 CTTT
CTTT
 126 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(123): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0003g0019
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0251
a0001c0001t0003g0291
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0018g0028
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0008t0021g0252
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
 127 HG00423.hp1
HG00423.hp2
HG00544.hp1
others(124): Show 
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18971.hp1
NA18979.hp1
NA18980.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.969+16077_969+1607
others(7): Show 
c.969+16077_969+16079dupTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245788 C
C
 CTTTT
CTTTT
 68 a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
others(65): Show 
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0163
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0004g0006
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0140
a0001c0001t0008g0202
a0001c0001t0010g0047
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0014g0229
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0037g0012
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0012t0011g0266
a0002c0002t0002g0189
 69 HG00099.hp1
HG00280.hp1
HG00621.hp1
others(66): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01261.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02630.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02976.hp2
HG03017.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18945.hp1
NA18948.hp1
NA18956.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18990.hp1
NA18991.hp1
NA18991.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp2
NA19067.hp1
NA19074.hp2
NA19080.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+16076_969+1607
others(8): Show 
c.969+16076_969+16079dupTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245788 C
C
 CTTTTT
CTTTTT
 11 a0001c0001t0001g0146
a0001c0001t0003g0143
a0001c0001t0005g0227
others(8): Show 
a0001c0001t0001g0146
a0001c0001t0003g0143
a0001c0001t0005g0227
a0001c0001t0006g0226
a0001c0001t0010g0048
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0018g0147
a0001c0001t0026g0050
a0001c0001t0068g0145
a0001c0010t0048g0052
 11 HG01884.hp2
HG01928.hp1
HG02027.hp1
others(8): Show 
HG01884.hp2
HG01928.hp1
HG02027.hp1
HG02145.hp2
HG02572.hp2
HG02738.hp2
HG03942.hp1
HG04115.hp1
NA19002.hp1
NA19030.hp2
NA19082.hp1
 intron_variant MODIFIER c.969+16075_969+1607
others(9): Show 
c.969+16075_969+16079dupTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245788 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 2 a0001c0001t0001g0152
a0001c0001t0004g0151
a0001c0001t0001g0152
a0001c0001t0004g0151
 2 NA18940.hp1
NA19066.hp1
NA18940.hp1
NA19066.hp1
 intron_variant MODIFIER c.969+16069_969+1607
others(15): Show 
c.969+16069_969+16079delTTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2245788
chr1:2245854 T
T
 C
C
 1 a0001c0001t0031g0321
a0001c0001t0031g0321
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.969+16119T>C
c.969+16119T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245854
chr1:2245902 T
T
 G
G
 1 a0001c0001t0003g0209
a0001c0001t0003g0209
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.969+16167T>G
c.969+16167T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245902
chr1:2245940 G
G
 A
A
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+16205G>A
c.969+16205G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2245940
chr1:2246034 C
C
 T
T
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.969+16299C>T
c.969+16299C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246034
chr1:2246288 T
T
 C
C
 120 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(117): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 120 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(117): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+16553T>C
c.969+16553T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246288
chr1:2246617 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+16882C>T
c.969+16882C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246617
chr1:2246724 C
C
 T
T
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.969+16989C>T
c.969+16989C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246724
chr1:2246730 C
C
 G
G
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.969+16995C>G
c.969+16995C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246730
chr1:2246767 C
C
 G
G
 74 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 74 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(71): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.969+17032C>G
c.969+17032C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246767
chr1:2246835 C
C
 T
T
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.969+17100C>T
c.969+17100C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246835
chr1:2246853 T
T
 TG
TG
 112 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(109): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 112 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(109): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+17126dupG
c.969+17126dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2246853
chr1:2246853 TGG
TGG
 T
T
 90 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 90 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+17125_969+1712
others(6): Show 
c.969+17125_969+17126delGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2246853
chr1:2246860 G
G
 T
T
 8 a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
others(5): Show 
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0017g0287
a0001c0001t0057g0288
a0001c0007t0078g0269
 8 HG00609.hp2
NA18946.hp1
NA19007.hp2
others(5): Show 
HG00609.hp2
NA18946.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.969+17125G>T
c.969+17125G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246860
chr1:2246972 C
C
 G
G
 15 a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0036
others(12): Show 
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0071g0024
 15 HG02155.hp1
NA18612.hp2
NA18942.hp1
others(12): Show 
HG02155.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18979.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19070.hp1
NA19079.hp1
 intron_variant MODIFIER c.969+17237C>G
c.969+17237C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2246972
chr1:2247219 A
A
 T
T
 1 a0001c0001t0006g0142
a0001c0001t0006g0142
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.969+17484A>T
c.969+17484A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2247219
chr1:2247315 CGCCCTCA
CGCCCTCA
 C
C
 28 a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
others(25): Show 
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
 28 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(25): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+17584_969+1759
others(11): Show 
c.969+17584_969+17590delCTCAGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2247315
chr1:2247349 A
A
 G
G
 1 a0001c0001t0006g0284
a0001c0001t0006g0284
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.969+17614A>G
c.969+17614A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2247349
chr1:2247511 C
C
 T
T
 2 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0110
a0001c0001t0001g0141
 2 HG01975.hp2
HG01978.hp2
HG01975.hp2
HG01978.hp2
 intron_variant MODIFIER c.969+17776C>T
c.969+17776C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2247511
chr1:2247560 C
C
 T
T
 113 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(110): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 113 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(110): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+17825C>T
c.969+17825C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2247560
chr1:2247995 C
C
 CG
CG
 36 a0001c0001t0001g0020
a0001c0001t0001g0235
a0001c0001t0001g0283
others(33): Show 
a0001c0001t0001g0020
a0001c0001t0001g0235
a0001c0001t0001g0283
a0001c0001t0002g0084
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0127
a0001c0001t0003g0246
a0001c0001t0003g0290
a0001c0001t0004g0017
a0001c0001t0005g0225
a0001c0001t0005g0232
a0001c0001t0006g0226
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0009g0296
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0013g0177
a0001c0001t0018g0147
a0001c0001t0023g0139
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0007t0078g0269
a0001c0009t0004g0064
a0002c0002t0002g0184
a0002c0002t0055g0183
a0002c0004t0001g0188
 36 HG00438.hp2
HG00642.hp1
HG00642.hp2
others(33): Show 
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02738.hp2
HG03927.hp1
HG04184.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp2
NA18961.hp1
NA18998.hp2
NA19002.hp1
NA19067.hp2
NA19074.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
 intron_variant MODIFIER c.969+18267dupG
c.969+18267dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2247995
chr1:2248090 C
C
 G
G
 1 a0001c0001t0071g0024
a0001c0001t0071g0024
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.969+18355C>G
c.969+18355C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248090
chr1:2248192 G
G
 A
A
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.969+18457G>A
c.969+18457G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248192
chr1:2248197 G
G
 A
A
 1 a0001c0001t0005g0228
a0001c0001t0005g0228
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.969+18462G>A
c.969+18462G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248197
chr1:2248244 C
C
 T
T
 1 a0001c0001t0001g0271
a0001c0001t0001g0271
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.969+18509C>T
c.969+18509C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248244
chr1:2248545 C
C
 T
T
 1 a0001c0001t0003g0217
a0001c0001t0003g0217
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.969+18810C>T
c.969+18810C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248545
chr1:2248556 C
C
 T
T
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0012t0011g0266
 7 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG04204.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+18821C>T
c.969+18821C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248556
chr1:2248643 C
C
 T
T
 1 a0001c0001t0008g0042
a0001c0001t0008g0042
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.969+18908C>T
c.969+18908C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248643
chr1:2248649 C
C
 A
A
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.969+18914C>A
c.969+18914C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248649
chr1:2248794 G
G
 A
A
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+19059G>A
c.969+19059G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248794
chr1:2248858 A
A
 G
G
 5 a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
others(2): Show 
a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
a0001c0001t0062g0257
a0001c0010t0048g0052
 5 HG01884.hp2
HG02572.hp2
HG02622.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02622.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+19123A>G
c.969+19123A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248858
chr1:2248881 T
T
 C
C
 3 a0001c0001t0003g0163
a0001c0001t0010g0164
a0001c0001t0082g0156
a0001c0001t0003g0163
a0001c0001t0010g0164
a0001c0001t0082g0156
 3 HG02027.hp2
NA18612.hp1
NA19011.hp2
HG02027.hp2
NA18612.hp1
NA19011.hp2
 intron_variant MODIFIER c.969+19146T>C
c.969+19146T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248881
chr1:2248978 G
G
 C
C
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+19243G>C
c.969+19243G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2248978
chr1:2249085 G
G
 A
A
 139 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(136): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 141 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(138): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+19350G>A
c.969+19350G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249085
chr1:2249188 G
G
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 78 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+19453G>C
c.969+19453G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249188
chr1:2249291 G
G
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+19556G>A
c.969+19556G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249291
chr1:2249328 T
T
 C
C
 1 a0001c0001t0003g0217
a0001c0001t0003g0217
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.969+19593T>C
c.969+19593T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249328
chr1:2249784 T
T
 G
G
 2 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0020
a0001c0001t0001g0021
 2 NA18946.hp2
NA19007.hp1
NA18946.hp2
NA19007.hp1
 intron_variant MODIFIER c.969+20049T>G
c.969+20049T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249784
chr1:2249987 C
C
 T
T
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+20252C>T
c.969+20252C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2249987
chr1:2250066 C
C
 T
T
 8 a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
others(5): Show 
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0017g0287
a0001c0001t0057g0288
a0001c0007t0078g0269
 8 HG00609.hp2
NA18946.hp1
NA19007.hp2
others(5): Show 
HG00609.hp2
NA18946.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.969+20331C>T
c.969+20331C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250066
chr1:2250067 G
G
 A
A
 1 a0001c0001t0028g0055
a0001c0001t0028g0055
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.969+20332G>A
c.969+20332G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250067
chr1:2250195 C
C
 G
G
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.969+20460C>G
c.969+20460C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250195
chr1:2250273 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+20538C>T
c.969+20538C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250273
chr1:2250309 C
C
 T
T
 16 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(13): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0034g0190
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 17 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(14): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19082.hp1
 intron_variant MODIFIER c.969+20574C>T
c.969+20574C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250309
chr1:2250479 C
C
 T
T
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.969+20744C>T
c.969+20744C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250479
chr1:2250524 C
C
 T
T
 29 a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
 30 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(27): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+20789C>T
c.969+20789C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250524
chr1:2250687 C
C
 T
T
 3 a0001c0001t0002g0084
a0001c0001t0010g0085
a0001c0001t0081g0083
a0001c0001t0002g0084
a0001c0001t0010g0085
a0001c0001t0081g0083
 3 HG02074.hp1
NA18980.hp1
NA18982.hp1
HG02074.hp1
NA18980.hp1
NA18982.hp1
 intron_variant MODIFIER c.969+20952C>T
c.969+20952C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250687
chr1:2250739 G
G
 A
A
 5 a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
others(2): Show 
a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0046g0057
a0001c0001t0062g0257
a0001c0010t0048g0052
 5 HG01884.hp2
HG02572.hp2
HG02622.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02622.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+21004G>A
c.969+21004G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250739
chr1:2250768 C
C
 T
T
 1 a0001c0001t0067g0097
a0001c0001t0067g0097
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.969+21033C>T
c.969+21033C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250768
chr1:2250886 C
C
 A
A
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+21151C>A
c.969+21151C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250886
chr1:2250903 T
T
 C
C
 65 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(62): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0008t0021g0252
 65 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02735.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+21168T>C
c.969+21168T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2250903
chr1:2251031 G
G
 A
A
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+21296G>A
c.969+21296G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251031
chr1:2251174 G
G
 A
A
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.969+21439G>A
c.969+21439G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251174
chr1:2251190 G
G
 A
A
 1 a0001c0001t0003g0204
a0001c0001t0003g0204
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.969+21455G>A
c.969+21455G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251190
chr1:2251211 G
G
 A
A
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+21476G>A
c.969+21476G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251211
chr1:2251349 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+21614C>T
c.969+21614C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251349
chr1:2251481 A
A
 G
G
 3 a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
 3 HG02109.hp2
HG03209.hp2
NA21309.hp1
HG02109.hp2
HG03209.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+21746A>G
c.969+21746A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251481
chr1:2251484 G
G
 A
A
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.969+21749G>A
c.969+21749G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251484
chr1:2251491 C
C
 T
T
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.969+21756C>T
c.969+21756C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251491
chr1:2251544 G
G
 A
A
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.969+21809G>A
c.969+21809G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251544
chr1:2251602 C
C
 T
T
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.969+21867C>T
c.969+21867C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251602
chr1:2251617 G
G
 A
A
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+21882G>A
c.969+21882G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251617
chr1:2251802 C
C
 T
T
 1 a0001c0001t0009g0095
a0001c0001t0009g0095
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.969+22067C>T
c.969+22067C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2251802
chr1:2252086 G
G
 C
C
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.969+22351G>C
c.969+22351G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252086
chr1:2252093 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.969+22358C>T
c.969+22358C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252093
chr1:2252098 G
G
 A
A
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.969+22363G>A
c.969+22363G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252098
chr1:2252315 C
C
 G
G
 105 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(102): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 105 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(102): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+22580C>G
c.969+22580C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252315
chr1:2252541 C
C
 T
T
 1 a0001c0001t0009g0307
a0001c0001t0009g0307
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.969+22806C>T
c.969+22806C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252541
chr1:2252575 G
G
 T
T
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.969+22840G>T
c.969+22840G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252575
chr1:2252606 GC
GC
 G
G
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+22875delC
c.969+22875delC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2252606
chr1:2252686 C
C
 T
T
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+22951C>T
c.969+22951C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252686
chr1:2252841 T
T
 C
C
 65 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
others(62): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0083g0231
a0001c0008t0021g0252
 65 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02735.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+23106T>C
c.969+23106T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252841
chr1:2252869 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+23134C>T
c.969+23134C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252869
chr1:2252952 C
C
 T
T
 1 a0001c0001t0057g0288
a0001c0001t0057g0288
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.969+23217C>T
c.969+23217C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252952
chr1:2252962 T
T
 G
G
 233 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(230): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 235 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(232): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+23227T>G
c.969+23227T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2252962
chr1:2253095 GAA
GAA
 G
G
 230 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(227): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 232 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(229): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+23375_969+2337
others(6): Show 
c.969+23375_969+23376delAA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2253095
chr1:2253133 A
A
 C
C
 10 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(7): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0067g0097
a0001c0001t0069g0104
 10 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(7): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.969+23398A>C
c.969+23398A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253133
chr1:2253146 G
G
 A
A
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.969+23411G>A
c.969+23411G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253146
chr1:2253199 C
C
 A
A
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+23464C>A
c.969+23464C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253199
chr1:2253253 G
G
 C
C
 91 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(88): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 91 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(88): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+23518G>C
c.969+23518G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253253
chr1:2253316 C
C
 T
T
 8 a0001c0001t0001g0299
a0001c0001t0002g0301
a0001c0001t0006g0300
others(5): Show 
a0001c0001t0001g0299
a0001c0001t0002g0301
a0001c0001t0006g0300
a0001c0001t0009g0296
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0058g0297
 8 HG01074.hp1
HG01099.hp1
HG02559.hp1
others(5): Show 
HG01074.hp1
HG01099.hp1
HG02559.hp1
HG02717.hp1
HG02922.hp2
HG03225.hp1
HG04184.hp2
NA18906.hp1
 intron_variant MODIFIER c.969+23581C>T
c.969+23581C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253316
chr1:2253384 G
G
 A
A
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.969+23649G>A
c.969+23649G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253384
chr1:2253416 G
G
 C
C
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+23681G>C
c.969+23681G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253416
chr1:2253516 G
G
 A
A
 1 a0001c0001t0002g0049
a0001c0001t0002g0049
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.969+23781G>A
c.969+23781G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253516
chr1:2253549 A
A
 G
G
 30 a0001c0001t0001g0001
a0001c0001t0001g0271
a0001c0001t0001g0299
others(27): Show 
a0001c0001t0001g0001
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
 31 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(28): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19002.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+23814A>G
c.969+23814A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253549
chr1:2253633 C
C
 G
G
 2 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0093
a0001c0001t0002g0094
 2 HG03041.hp2
HG03471.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+23898C>G
c.969+23898C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253633
chr1:2253707 C
C
 T
T
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.969+23972C>T
c.969+23972C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253707
chr1:2253720 G
G
 A
A
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+23985G>A
c.969+23985G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253720
chr1:2253865 G
G
 C
C
 1 a0001c0001t0084g0112
a0001c0001t0084g0112
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.969+24130G>C
c.969+24130G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253865
chr1:2253871 G
G
 C
C
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+24136G>C
c.969+24136G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253871
chr1:2253879 T
T
 C
C
 4 a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
others(1): Show 
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 4 HG01515.hp1
HG02300.hp1
HG02486.hp2
others(1): Show 
HG01515.hp1
HG02300.hp1
HG02486.hp2
HG04115.hp2
 intron_variant MODIFIER c.969+24144T>C
c.969+24144T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253879
chr1:2253961 T
T
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 78 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+24226T>C
c.969+24226T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2253961
chr1:2254025 G
G
 A
A
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+24290G>A
c.969+24290G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254025
chr1:2254111 G
G
 A
A
 1 a0001c0001t0002g0320
a0001c0001t0002g0320
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.969+24376G>A
c.969+24376G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254111
chr1:2254300 A
A
 G
G
 11 a0001c0001t0001g0035
a0001c0001t0002g0036
a0001c0001t0002g0038
others(8): Show 
a0001c0001t0001g0035
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0003g0039
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0071g0024
 11 HG02155.hp1
NA18612.hp2
NA18942.hp1
others(8): Show 
HG02155.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18956.hp2
NA18971.hp1
NA18979.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19079.hp1
 intron_variant MODIFIER c.969+24565A>G
c.969+24565A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254300
chr1:2254344 G
G
 A
A
 1 a0001c0001t0076g0113
a0001c0001t0076g0113
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.969+24609G>A
c.969+24609G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254344
chr1:2254434 A
A
 T
T
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+24699A>T
c.969+24699A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254434
chr1:2254447 C
C
 T
T
 17 a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0002g0124
others(14): Show 
a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0013
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0007g0162
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0015g0126
a0001c0001t0054g0159
a0001c0001t0082g0156
a0001c0005t0003g0137
a0001c0011t0039g0071
 17 HG00609.hp1
HG01081.hp1
HG01928.hp2
others(14): Show 
HG00609.hp1
HG01081.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02027.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
NA18612.hp1
NA18948.hp1
NA18990.hp2
NA19000.hp2
NA19011.hp2
NA19067.hp1
 intron_variant MODIFIER c.969+24712C>T
c.969+24712C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254447
chr1:2254533 G
G
 A
A
 1 a0001c0001t0008g0210
a0001c0001t0008g0210
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.969+24798G>A
c.969+24798G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254533
chr1:2254581 C
C
 T
T
 2 a0001c0001t0002g0326
a0001c0001t0004g0325
a0001c0001t0002g0326
a0001c0001t0004g0325
 2 HG02280.hp2
HG03130.hp1
HG02280.hp2
HG03130.hp1
 intron_variant MODIFIER c.969+24846C>T
c.969+24846C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254581
chr1:2254676 G
G
 A
A
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.969+24941G>A
c.969+24941G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254676
chr1:2254733 C
C
 CGT
CGT
 3 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0085g0263
a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0085g0263
 3 HG00280.hp2
HG02109.hp2
NA21309.hp1
HG00280.hp2
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+25014_969+2501
others(6): Show 
c.969+25014_969+25015dupTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2254733
chr1:2254733 C
C
 CGTGT
CGTGT
 29 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(26): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0018g0028
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
 29 HG00438.hp1
HG02004.hp2
HG02155.hp1
others(26): Show 
HG00438.hp1
HG02004.hp2
HG02155.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.969+25012_969+2501
others(8): Show 
c.969+25012_969+25015dupTGTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2254733
chr1:2254781 C
C
 T
T
 27 a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0001g0283
others(24): Show 
a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0277
a0001c0001t0003g0191
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0007t0078g0269
 27 HG00609.hp2
HG02071.hp1
HG02698.hp2
others(24): Show 
HG00609.hp2
HG02071.hp1
HG02698.hp2
HG02738.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03927.hp2
NA18940.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18977.hp1
NA18983.hp2
NA18984.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.969+25046C>T
c.969+25046C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254781
chr1:2254937 G
G
 A
A
 1 a0001c0001t0014g0229
a0001c0001t0014g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.969+25202G>A
c.969+25202G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254937
chr1:2254999 G
G
 A
A
 1 a0001c0001t0008g0239
a0001c0001t0008g0239
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.969+25264G>A
c.969+25264G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2254999
chr1:2255249 G
G
 A
A
 4 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(1): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0012t0011g0266
 5 HG02630.hp2
HG02976.hp2
HG03139.hp1
others(2): Show 
HG02630.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+25514G>A
c.969+25514G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255249
chr1:2255317 C
C
 T
T
 2 a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0064g0311
a0001c0001t0065g0312
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.969+25582C>T
c.969+25582C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255317
chr1:2255546 G
G
 A
A
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+25811G>A
c.969+25811G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255546
chr1:2255646 T
T
 G
G
 120 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(117): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 120 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(117): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+25911T>G
c.969+25911T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255646
chr1:2255685 A
A
 G
G
 1 a0001c0001t0023g0091
a0001c0001t0023g0091
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.969+25950A>G
c.969+25950A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255685
chr1:2255968 T
T
 C
C
 1 a0001c0005t0003g0137
a0001c0005t0003g0137
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.969+26233T>C
c.969+26233T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2255968
chr1:2256129 T
T
 A
A
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26394T>A
c.969+26394T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256129
chr1:2256135 A
A
 T
T
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26400A>T
c.969+26400A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256135
chr1:2256163 A
A
 T
T
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26428A>T
c.969+26428A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256163
chr1:2256168 T
T
 C
C
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26433T>C
c.969+26433T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256168
chr1:2256169 T
T
 A
A
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26434T>A
c.969+26434T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256169
chr1:2256170 A
A
 G
G
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.969+26435A>G
c.969+26435A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256170
chr1:2256194 C
C
 T
T
 1 a0001c0001t0008g0140
a0001c0001t0008g0140
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.969+26459C>T
c.969+26459C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256194
chr1:2256323 C
C
 T
T
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.969+26588C>T
c.969+26588C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256323
chr1:2256384 T
T
 C
C
 1 a0001c0001t0036g0262
a0001c0001t0036g0262
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.969+26649T>C
c.969+26649T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256384
chr1:2256472 G
G
 A
A
 9 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(6): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 10 HG00621.hp1
HG01256.hp1
HG01258.hp1
others(7): Show 
HG00621.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG04115.hp2
HG04199.hp2
NA19082.hp1
 intron_variant MODIFIER c.969+26737G>A
c.969+26737G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256472
chr1:2256504 C
C
 G
G
 2 a0001c0001t0007g0086
a0001c0001t0049g0087
a0001c0001t0007g0086
a0001c0001t0049g0087
 2 HG00735.hp1
HG04199.hp1
HG00735.hp1
HG04199.hp1
 intron_variant MODIFIER c.969+26769C>G
c.969+26769C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256504
chr1:2256527 G
G
 T
T
 1 a0001c0001t0012g0194
a0001c0001t0012g0194
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.969+26792G>T
c.969+26792G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256527
chr1:2256593 A
A
 G
G
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+26858A>G
c.969+26858A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256593
chr1:2256700 G
G
 A
A
 1 a0001c0001t0002g0318
a0001c0001t0002g0318
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.969+26965G>A
c.969+26965G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256700
chr1:2256728 G
G
 A
A
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+26993G>A
c.969+26993G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256728
chr1:2256837 G
G
 A
A
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.969+27102G>A
c.969+27102G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256837
chr1:2256841 C
C
 T
T
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.969+27106C>T
c.969+27106C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256841
chr1:2256881 T
T
 A
A
 1 a0001c0003t0001g0170
a0001c0003t0001g0170
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.969+27146T>A
c.969+27146T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256881
chr1:2256901 G
G
 A
A
 3 a0001c0001t0026g0050
a0001c0001t0062g0257
a0001c0010t0048g0052
a0001c0001t0026g0050
a0001c0001t0062g0257
a0001c0010t0048g0052
 3 HG02572.hp2
HG02622.hp2
NA19030.hp2
HG02572.hp2
HG02622.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+27166G>A
c.969+27166G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256901
chr1:2256986 A
A
 C
C
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.969+27251A>C
c.969+27251A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256986
chr1:2256997 G
G
 A
A
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.969+27262G>A
c.969+27262G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2256997
chr1:2257131 C
C
 A
A
 4 a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0062g0257
others(1): Show 
a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0062g0257
a0001c0010t0048g0052
 4 HG01884.hp2
HG02572.hp2
HG02622.hp2
others(1): Show 
HG01884.hp2
HG02572.hp2
HG02622.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+27396C>A
c.969+27396C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257131
chr1:2257228 T
T
 C
C
 1 a0001c0001t0022g0303
a0001c0001t0022g0303
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.969+27493T>C
c.969+27493T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257228
chr1:2257240 C
C
 T
T
 2 a0001c0001t0005g0228
a0001c0001t0083g0231
a0001c0001t0005g0228
a0001c0001t0083g0231
 2 NA20752.hp1
homoSapiens_chm13v2.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+27505C>T
c.969+27505C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257240
chr1:2257368 C
C
 T
T
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.969+27633C>T
c.969+27633C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257368
chr1:2257387 C
C
 T
T
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+27652C>T
c.969+27652C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257387
chr1:2257558 G
G
 GCTT
GCTT
 10 a0001c0001t0001g0165
a0001c0001t0003g0158
a0001c0001t0003g0163
others(7): Show 
a0001c0001t0001g0165
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0007g0162
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0054g0159
a0001c0001t0082g0156
 10 HG01081.hp1
HG01928.hp2
HG01952.hp1
others(7): Show 
HG01081.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02027.hp2
HG02273.hp2
HG02300.hp2
NA18612.hp1
NA19011.hp2
 intron_variant MODIFIER c.969+27825_969+2782
others(7): Show 
c.969+27825_969+27827dupTTC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2257558
chr1:2257757 A
A
 T
T
 115 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(112): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+28022A>T
c.969+28022A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257757
chr1:2257898 C
C
 T
T
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.969+28163C>T
c.969+28163C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257898
chr1:2257910 G
G
 A
A
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.969+28175G>A
c.969+28175G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257910
chr1:2257936 C
C
 T
T
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.969+28201C>T
c.969+28201C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257936
chr1:2257984 C
C
 T
T
 2 a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0006g0065
a0001c0001t0007g0061
 2 HG01978.hp1
HG02074.hp2
HG01978.hp1
HG02074.hp2
 intron_variant MODIFIER c.969+28249C>T
c.969+28249C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2257984
chr1:2258038 T
T
 C
C
 115 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(112): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+28303T>C
c.969+28303T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2258038
chr1:2258141 C
C
 T
T
 90 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 90 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+28406C>T
c.969+28406C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2258141
chr1:2258338 C
C
 G
G
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.969+28603C>G
c.969+28603C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2258338
chr1:2258456 TGTCA
TGTCA
 T
T
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+28727_969+2873
others(8): Show 
c.969+28727_969+28730delTCAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2258456
chr1:2258775 C
C
 A
A
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.969+29040C>A
c.969+29040C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2258775
chr1:2258805 C
C
 T
T
 1 a0001c0001t0086g0286
a0001c0001t0086g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.969+29070C>T
c.969+29070C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2258805
chr1:2259060 C
C
 G
G
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+29325C>G
c.969+29325C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259060
chr1:2259251 C
C
 T
T
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.969+29516C>T
c.969+29516C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259251
chr1:2259592 G
G
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.969+29857G>T
c.969+29857G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259592
chr1:2259776 C
C
 T
T
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.969+30041C>T
c.969+30041C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259776
chr1:2259917 T
T
 C
C
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.969+30182T>C
c.969+30182T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259917
chr1:2259977 C
C
 T
T
 1 a0001c0001t0003g0062
a0001c0001t0003g0062
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.969+30242C>T
c.969+30242C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2259977
chr1:2260061 C
C
 T
T
 16 a0001c0001t0001g0195
a0001c0001t0002g0203
a0001c0001t0003g0197
others(13): Show 
a0001c0001t0001g0195
a0001c0001t0002g0203
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
 16 HG00423.hp1
HG00673.hp1
HG01257.hp1
others(13): Show 
HG00423.hp1
HG00673.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01981.hp2
NA18942.hp2
NA18945.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp2
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19080.hp1
NA19081.hp2
 intron_variant MODIFIER c.969+30326C>T
c.969+30326C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260061
chr1:2260120 G
G
 A
A
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.969+30385G>A
c.969+30385G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260120
chr1:2260424 G
G
 A
A
 7 a0001c0001t0001g0152
a0001c0001t0002g0129
a0001c0001t0003g0046
others(4): Show 
a0001c0001t0001g0152
a0001c0001t0002g0129
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0004g0151
a0001c0001t0018g0147
 7 HG02027.hp1
NA18940.hp1
NA18967.hp2
others(4): Show 
HG02027.hp1
NA18940.hp1
NA18967.hp2
NA18971.hp2
NA19002.hp1
NA19063.hp2
NA19066.hp1
 intron_variant MODIFIER c.969+30689G>A
c.969+30689G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260424
chr1:2260535 C
C
 CT
CT
 8 a0001c0001t0003g0290
a0001c0001t0005g0066
a0001c0001t0005g0089
others(5): Show 
a0001c0001t0003g0290
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0007g0281
a0001c0001t0012g0067
a0001c0001t0017g0068
a0001c0001t0033g0073
a0001c0001t0049g0087
 8 HG00738.hp2
HG01346.hp2
HG01361.hp1
others(5): Show 
HG00738.hp2
HG01346.hp2
HG01361.hp1
HG02896.hp2
HG03098.hp2
HG04199.hp1
NA18947.hp2
NA19067.hp2
 intron_variant MODIFIER c.969+30823dupT
c.969+30823dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTT
CTT
 9 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0004g0008
others(6): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0004g0008
a0001c0001t0004g0025
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0010g0092
a0001c0001t0012g0194
a0001c0001t0066g0282
 9 HG02572.hp1
HG02738.hp1
HG02818.hp2
others(6): Show 
HG02572.hp1
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03471.hp2
NA18982.hp2
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.969+30822_969+3082
others(6): Show 
c.969+30822_969+30823dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTT
CTTT
 137 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(134): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0083g0231
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0008t0021g0252
 137 HG00099.hp1
HG00280.hp1
HG00544.hp2
others(134): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG03017.hp1
HG03041.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+30821_969+3082
others(7): Show 
c.969+30821_969+30823dupTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTT
CTTTT
 47 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0029
others(44): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0254
a0001c0001t0001g0323
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0322
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0217
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0015g0236
a0001c0001t0023g0139
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0061g0138
a0001c0001t0067g0097
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0003t0009g0173
a0001c0006t0040g0053
 47 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(44): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00735.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02300.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02886.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp1
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04204.hp2
NA18612.hp1
NA18940.hp1
NA18944.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18961.hp2
NA18967.hp2
NA18979.hp2
NA18984.hp2
NA19043.hp1
NA19065.hp2
NA19079.hp2
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+30820_969+3082
others(8): Show 
c.969+30820_969+30823dupTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTT
CTTTTT
 7 a0001c0001t0001g0146
a0001c0001t0002g0326
a0001c0001t0004g0260
others(4): Show 
a0001c0001t0001g0146
a0001c0001t0002g0326
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0011t0039g0071
 7 HG02109.hp2
HG02280.hp1
HG02280.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG03130.hp1
HG03942.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+30819_969+3082
others(9): Show 
c.969+30819_969+30823dupTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 7 a0001c0001t0001g0304
a0001c0001t0003g0063
a0001c0001t0006g0324
others(4): Show 
a0001c0001t0001g0304
a0001c0001t0003g0063
a0001c0001t0006g0324
a0001c0001t0007g0305
a0001c0001t0009g0308
a0001c0001t0013g0079
a0001c0009t0004g0064
 7 HG01169.hp2
HG02004.hp1
HG03540.hp2
others(4): Show 
HG01169.hp2
HG02004.hp1
HG03540.hp2
NA18522.hp1
NA18967.hp1
NA18998.hp2
NA20300.hp2
 intron_variant MODIFIER c.969+30814_969+3082
others(14): Show 
c.969+30814_969+30823dupTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 12 a0001c0001t0001g0001
a0001c0001t0001g0313
a0001c0001t0006g0080
others(9): Show 
a0001c0001t0001g0001
a0001c0001t0001g0313
a0001c0001t0006g0080
a0001c0001t0007g0061
a0001c0001t0007g0302
a0001c0001t0016g0298
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0065g0312
 13 HG01243.hp2
HG01515.hp2
HG01517.hp2
others(10): Show 
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG02897.hp2
HG02922.hp2
HG03486.hp2
HG03942.hp2
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.969+30813_969+3082
others(15): Show 
c.969+30813_969+30823dupTTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 7 a0001c0001t0001g0314
a0001c0001t0002g0318
a0001c0001t0002g0320
others(4): Show 
a0001c0001t0001g0314
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0016g0317
a0001c0001t0035g0261
a0001c0001t0045g0294
a0001c0001t0058g0297
 7 HG02258.hp2
HG02559.hp1
HG02809.hp1
others(4): Show 
HG02258.hp2
HG02559.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG03834.hp1
NA18906.hp1
 intron_variant MODIFIER c.969+30812_969+3082
others(16): Show 
c.969+30812_969+30823dupTTTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 4 a0001c0001t0001g0299
a0001c0001t0006g0300
a0001c0001t0009g0296
others(1): Show 
a0001c0001t0001g0299
a0001c0001t0006g0300
a0001c0001t0009g0296
a0001c0001t0021g0316
 4 HG01074.hp1
HG01099.hp1
HG02717.hp1
others(1): Show 
HG01074.hp1
HG01099.hp1
HG02717.hp1
HG03225.hp1
 intron_variant MODIFIER c.969+30811_969+3082
others(17): Show 
c.969+30811_969+30823dupTTTTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.969+30810_969+3082
others(18): Show 
c.969+30810_969+30823dupTTTTTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 CTT
CTT
 C
C
 20 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(17): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 22 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(19): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+30822_969+3082
others(6): Show 
c.969+30822_969+30823delTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260535 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.969+30814_969+3082
others(14): Show 
c.969+30814_969+30823delTTTTTTTTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2260535
chr1:2260541 T
T
 C
C
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.969+30806T>C
c.969+30806T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260541
chr1:2260543 T
T
 C
C
 5 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(2): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
 6 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(3): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+30808T>C
c.969+30808T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260543
chr1:2260544 T
T
 C
C
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.969+30809T>C
c.969+30809T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260544
chr1:2260737 C
C
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.969+31002C>T
c.969+31002C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260737
chr1:2260887 G
G
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+31152G>T
c.969+31152G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260887
chr1:2260994 A
A
 G
G
 92 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(89): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 92 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(89): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+31259A>G
c.969+31259A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2260994
chr1:2261200 G
G
 C
C
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+31465G>C
c.969+31465G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261200
chr1:2261261 C
C
 T
T
 7 a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
others(4): Show 
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0010g0208
 7 HG00642.hp2
HG00741.hp2
HG01081.hp2
others(4): Show 
HG00642.hp2
HG00741.hp2
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG03239.hp1
HG03491.hp1
 intron_variant MODIFIER c.969+31526C>T
c.969+31526C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261261
chr1:2261344 G
G
 C
C
 4 a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
others(1): Show 
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
a0001c0001t0017g0272
 4 NA18947.hp2
NA18962.hp1
NA18977.hp1
others(1): Show 
NA18947.hp2
NA18962.hp1
NA18977.hp1
NA18984.hp1
 intron_variant MODIFIER c.969+31609G>C
c.969+31609G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261344
chr1:2261347 T
T
 G
G
 1 a0001c0001t0002g0129
a0001c0001t0002g0129
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.969+31612T>G
c.969+31612T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261347
chr1:2261509 T
T
 C
C
 107 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(104): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 107 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(104): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+31774T>C
c.969+31774T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261509
chr1:2261539 A
A
 G
G
 1 a0001c0001t0003g0191
a0001c0001t0003g0191
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.969+31804A>G
c.969+31804A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261539
chr1:2261545 G
G
 A
A
 2 a0001c0001t0003g0127
a0001c0001t0004g0114
a0001c0001t0003g0127
a0001c0001t0004g0114
 2 NA18954.hp1
NA19091.hp2
NA18954.hp1
NA19091.hp2
 intron_variant MODIFIER c.969+31810G>A
c.969+31810G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261545
chr1:2261797 C
C
 T
T
 3 a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0018g0149
a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0018g0149
 3 NA18944.hp2
NA19070.hp2
NA19080.hp2
NA18944.hp2
NA19070.hp2
NA19080.hp2
 intron_variant MODIFIER c.969+32062C>T
c.969+32062C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261797
chr1:2261932 G
G
 C
C
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.969+32197G>C
c.969+32197G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261932
chr1:2261944 GCTCCTGA
others(1): Show 
GCTCCTGAT
 G
G
 78 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 78 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+32224_969+3223
others(12): Show 
c.969+32224_969+32231delATCTCCTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2261944
chr1:2261978 G
G
 A
A
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.969+32243G>A
c.969+32243G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2261978
chr1:2262015 C
C
 T
T
 1 a0001c0001t0005g0161
a0001c0001t0005g0161
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.969+32280C>T
c.969+32280C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262015
chr1:2262045 ATCTGGAA
others(63): Show 
ATCTGGAAGGCGTGGAATCAGAGTTTGGGTGGGAGTGGTGGGAGTGGACA
CCCTCGCTCCTGATCTCCTGG
 A
A
 90 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 90 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.969+32364_969+3243
others(74): Show 
c.969+32364_969+32433delCGCTCCTGATCTCCTGGTCTGGAAGG
CGTGGAATCAGAGTTTGGGTGGGAGTGGTGGGAGTGGACACCCT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2262045
chr1:2262203 C
C
 T
T
 1 a0001c0001t0002g0049
a0001c0001t0002g0049
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.969+32468C>T
c.969+32468C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262203
chr1:2262207 G
G
 C
C
 29 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(26): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0018g0028
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
 29 HG00438.hp1
HG02004.hp2
HG02155.hp1
others(26): Show 
HG00438.hp1
HG02004.hp2
HG02155.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.969+32472G>C
c.969+32472G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262207
chr1:2262365 G
G
 C
C
 9 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(6): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0067g0097
a0001c0001t0069g0104
 9 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(6): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.969+32630G>C
c.969+32630G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262365
chr1:2262452 G
G
 A
A
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.969+32717G>A
c.969+32717G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262452
chr1:2262461 C
C
 T
T
 2 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0313
a0001c0001t0001g0314
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.969+32726C>T
c.969+32726C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262461
chr1:2262484 G
G
 A
A
 115 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(112): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+32749G>A
c.969+32749G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262484
chr1:2262576 C
C
 A
A
 232 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 234 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(231): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+32841C>A
c.969+32841C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262576
chr1:2262590 C
C
 T
T
 1 a0001c0001t0085g0263
a0001c0001t0085g0263
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.969+32855C>T
c.969+32855C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262590
chr1:2262614 C
C
 T
T
 1 a0001c0001t0062g0257
a0001c0001t0062g0257
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.969+32879C>T
c.969+32879C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262614
chr1:2262692 T
T
 G
G
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.969+32957T>G
c.969+32957T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262692
chr1:2262750 T
T
 G
G
 3 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0079g0128
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0079g0128
 3 HG00544.hp1
NA18950.hp2
NA18980.hp2
HG00544.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.969+33015T>G
c.969+33015T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262750
chr1:2262985 C
C
 T
T
 6 a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
others(3): Show 
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
 6 HG00642.hp1
HG01243.hp1
HG01891.hp2
others(3): Show 
HG00642.hp1
HG01243.hp1
HG01891.hp2
HG02647.hp2
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.969+33250C>T
c.969+33250C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2262985
chr1:2263073 G
G
 C
C
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.969+33338G>C
c.969+33338G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263073
chr1:2263211 T
T
 C
C
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.969+33476T>C
c.969+33476T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263211
chr1:2263234 AT
AT
 A
A
 24 a0001c0001t0001g0195
a0001c0001t0002g0203
a0001c0001t0002g0242
others(21): Show 
a0001c0001t0001g0195
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0009g0296
a0001c0001t0010g0048
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0001t0072g0200
a0001c0001t0074g0192
a0002c0002t0002g0189
 24 HG00423.hp1
HG00438.hp2
HG00673.hp1
others(21): Show 
HG00423.hp1
HG00438.hp2
HG00673.hp1
HG01099.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01981.hp2
HG02559.hp1
HG02622.hp2
HG02723.hp2
HG04199.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18959.hp1
NA18962.hp2
NA18991.hp1
NA19012.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp2
NA20129.hp2
 intron_variant MODIFIER c.969+33519delT
c.969+33519delT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2263234
chr1:2263234 ATT
ATT
 A
A
 204 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(201): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 206 HG00099.hp1
HG00280.hp1
HG00423.hp2
others(203): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+33518_969+3351
others(6): Show 
c.969+33518_969+33519delTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2263234
chr1:2263409 T
T
 C
C
 1 a0001c0001t0008g0239
a0001c0001t0008g0239
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.969+33674T>C
c.969+33674T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263409
chr1:2263642 G
G
 A
A
 1 a0001c0001t0014g0144
a0001c0001t0014g0144
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.969+33907G>A
c.969+33907G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263642
chr1:2263678 C
C
 T
T
 105 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(102): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
 105 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(102): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+33943C>T
c.969+33943C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263678
chr1:2263711 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.969+33976G>A
c.969+33976G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263711
chr1:2263723 G
G
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.969+33988G>A
c.969+33988G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263723
chr1:2263789 C
C
 A
A
 10 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(7): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0067g0097
a0001c0001t0069g0104
 10 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(7): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.969+34054C>A
c.969+34054C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263789
chr1:2263866 C
C
 CA
CA
 46 a0001c0001t0001g0001
a0001c0001t0001g0271
a0001c0001t0001g0299
others(43): Show 
a0001c0001t0001g0001
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0084
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0274
a0001c0001t0004g0034
a0001c0001t0004g0275
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0202
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0001t0065g0312
a0001c0009t0004g0064
 47 HG00323.hp1
HG00735.hp1
HG01074.hp1
others(44): Show 
HG00323.hp1
HG00735.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02004.hp1
HG02074.hp1
HG02074.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18947.hp2
NA18962.hp1
NA18967.hp1
NA18977.hp1
NA18984.hp1
NA18991.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.969+34149dupA
c.969+34149dupA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2263866
chr1:2263866 CA
CA
 C
C
 11 a0001c0001t0001g0020
a0001c0001t0003g0019
a0001c0001t0003g0273
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0003g0019
a0001c0001t0003g0273
a0001c0001t0003g0280
a0001c0001t0004g0260
a0001c0001t0012g0067
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0017g0068
a0001c0001t0063g0259
a0001c0011t0039g0071
 11 HG00738.hp2
HG01261.hp1
HG02109.hp2
others(8): Show 
HG00738.hp2
HG01261.hp1
HG02109.hp2
HG02280.hp1
HG02896.hp2
HG03209.hp2
NA18946.hp2
NA18964.hp1
NA19057.hp2
NA19082.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+34149delA
c.969+34149delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2263866
chr1:2263983 C
C
 T
T
 1 a0001c0001t0068g0145
a0001c0001t0068g0145
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.969+34248C>T
c.969+34248C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2263983
chr1:2264013 TA
TA
 T
T
 230 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(227): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 232 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(229): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.969+34290delA
c.969+34290delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2264013
chr1:2264090 G
G
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.969+34355G>T
c.969+34355G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264090
chr1:2264306 G
G
 A
A
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.969+34571G>A
c.969+34571G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264306
chr1:2264338 C
C
 T
T
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.969+34603C>T
c.969+34603C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264338
chr1:2264399 G
G
 T
T
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.969+34664G>T
c.969+34664G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264399
chr1:2264448 TTAG
TTAG
 T
T
 4 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(1): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0012t0011g0266
 5 HG02630.hp2
HG02976.hp2
HG03139.hp1
others(2): Show 
HG02630.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.969+34717_969+3471
others(7): Show 
c.969+34717_969+34719delTAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2264448
chr1:2264626 T
T
 C
C
 2 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0110
a0001c0001t0001g0141
 2 HG01975.hp2
HG01978.hp2
HG01975.hp2
HG01978.hp2
 intron_variant MODIFIER c.969+34891T>C
c.969+34891T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264626
chr1:2264661 T
T
 C
C
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.969+34926T>C
c.969+34926T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264661
chr1:2264694 G
G
 T
T
 26 a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0002g0203
others(23): Show 
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0219
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
 26 HG00423.hp1
HG00544.hp2
HG00621.hp2
others(23): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00673.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01981.hp2
HG03831.hp1
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp2
NA19090.hp1
 intron_variant MODIFIER c.969+34959G>T
c.969+34959G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264694
chr1:2264787 C
C
 T
T
 2 a0001c0001t0026g0050
a0001c0010t0048g0052
a0001c0001t0026g0050
a0001c0010t0048g0052
 2 HG02572.hp2
NA19030.hp2
HG02572.hp2
NA19030.hp2
 intron_variant MODIFIER c.969+35052C>T
c.969+35052C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264787
chr1:2264838 A
A
 C
C
 2 a0001c0001t0001g0132
a0001c0001t0014g0144
a0001c0001t0001g0132
a0001c0001t0014g0144
 2 HG03017.hp1
HG04115.hp1
HG03017.hp1
HG04115.hp1
 intron_variant MODIFIER c.969+35103A>C
c.969+35103A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264838
chr1:2264957 C
C
 T
T
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.969+35222C>T
c.969+35222C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2264957
chr1:2265011 C
C
 T
T
 1 a0001c0001t0008g0239
a0001c0001t0008g0239
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.969+35276C>T
c.969+35276C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265011
chr1:2265198 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.969+35463C>T
c.969+35463C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265198
chr1:2265331 T
T
 C
C
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.969+35596T>C
c.969+35596T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265331
chr1:2265474 G
G
 A
A
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.969+35739G>A
c.969+35739G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265474
chr1:2265660 G
G
 A
A
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.969+35925G>A
c.969+35925G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265660
chr1:2265794 C
C
 T
T
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.969+36059C>T
c.969+36059C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265794
chr1:2265894 G
G
 C
C
 28 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(25): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0018g0028
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
 28 HG00438.hp1
HG02004.hp2
HG02155.hp1
others(25): Show 
HG00438.hp1
HG02004.hp2
HG02155.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.969+36159G>C
c.969+36159G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265894
chr1:2265903 G
G
 C
C
 1 a0001c0001t0084g0112
a0001c0001t0084g0112
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.969+36168G>C
c.969+36168G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2265903
chr1:2266287 T
T
 C
C
 2 a0001c0001t0001g0001
a0001c0001t0006g0080
a0001c0001t0001g0001
a0001c0001t0006g0080
 3 HG01515.hp2
HG01517.hp2
NA20805.hp1
HG01515.hp2
HG01517.hp2
NA20805.hp1
 intron_variant MODIFIER c.969+36552T>C
c.969+36552T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2266287
chr1:2266436 C
C
 T
T
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.970-36542C>T
c.970-36542C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2266436
chr1:2266627 C
C
 T
T
 1 a0001c0001t0017g0272
a0001c0001t0017g0272
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.970-36351C>T
c.970-36351C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2266627
chr1:2266822 C
C
 T
T
 1 a0001c0001t0003g0290
a0001c0001t0003g0290
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.970-36156C>T
c.970-36156C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2266822
chr1:2267246 G
G
 A
A
 1 a0001c0001t0016g0267
a0001c0001t0016g0267
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.970-35732G>A
c.970-35732G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267246
chr1:2267524 G
G
 C
C
 2 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0110
a0001c0001t0001g0141
 2 HG01975.hp2
HG01978.hp2
HG01975.hp2
HG01978.hp2
 intron_variant MODIFIER c.970-35454G>C
c.970-35454G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267524
chr1:2267616 A
A
 G
G
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-35362A>G
c.970-35362A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267616
chr1:2267618 C
C
 T
T
 21 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(18): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0034g0190
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 23 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(20): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.970-35360C>T
c.970-35360C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267618
chr1:2267641 G
G
 A
A
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.970-35337G>A
c.970-35337G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267641
chr1:2267698 G
G
 A
A
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-35280G>A
c.970-35280G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267698
chr1:2267790 G
G
 A
A
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-35188G>A
c.970-35188G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267790
chr1:2267864 C
C
 T
T
 1 a0001c0001t0002g0318
a0001c0001t0002g0318
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.970-35114C>T
c.970-35114C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2267864
chr1:2268028 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-34950C>T
c.970-34950C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268028
chr1:2268111 G
G
 A
A
 1 a0001c0009t0004g0064
a0001c0009t0004g0064
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.970-34867G>A
c.970-34867G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268111
chr1:2268219 G
G
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-34759G>A
c.970-34759G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268219
chr1:2268302 G
G
 T
T
 2 a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0003g0290
a0001c0001t0003g0291
 2 NA19007.hp2
NA19067.hp2
NA19007.hp2
NA19067.hp2
 intron_variant MODIFIER c.970-34676G>T
c.970-34676G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268302
chr1:2268446 C
C
 T
T
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.970-34532C>T
c.970-34532C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268446
chr1:2268618 C
C
 G
G
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-34360C>G
c.970-34360C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268618
chr1:2268712 G
G
 A
A
 3 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
 3 HG03516.hp1
NA19043.hp1
NA21309.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-34266G>A
c.970-34266G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268712
chr1:2268730 T
T
 C
C
 268 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(265): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 271 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(268): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-34248T>C
c.970-34248T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268730
chr1:2268864 C
C
 T
T
 11 a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0087g0168
others(8): Show 
a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0014t0001g0174
 11 HG01891.hp1
HG02630.hp1
HG02886.hp1
others(8): Show 
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-34114C>T
c.970-34114C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268864
chr1:2268902 G
G
 T
T
 323 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(320): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 326 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(323): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-34076G>T
c.970-34076G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268902
chr1:2268951 C
C
 A
A
 141 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(138): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 143 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(140): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-34027C>A
c.970-34027C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268951
chr1:2268965 C
C
 T
T
 115 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(112): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0014t0001g0174
 115 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-34013C>T
c.970-34013C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268965
chr1:2268967 A
A
 G
G
 1 a0001c0001t0003g0204
a0001c0001t0003g0204
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.970-34011A>G
c.970-34011A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2268967
chr1:2269022 C
C
 T
T
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-33956C>T
c.970-33956C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269022
chr1:2269069 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-33909G>A
c.970-33909G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269069
chr1:2269393 G
G
 A
A
 78 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
 78 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-33585G>A
c.970-33585G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269393
chr1:2269449 A
A
 C
C
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-33529A>C
c.970-33529A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269449
chr1:2269509 G
G
 C
C
 1 a0001c0001t0059g0244
a0001c0001t0059g0244
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.970-33469G>C
c.970-33469G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269509
chr1:2269536 C
C
 T
T
 1 a0001c0001t0003g0046
a0001c0001t0003g0046
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-33442C>T
c.970-33442C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269536
chr1:2269622 G
G
 A
A
 1 a0001c0001t0084g0112
a0001c0001t0084g0112
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.970-33356G>A
c.970-33356G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269622
chr1:2269626 C
C
 G
G
 2 a0001c0001t0003g0127
a0001c0001t0004g0114
a0001c0001t0003g0127
a0001c0001t0004g0114
 2 NA18954.hp1
NA19091.hp2
NA18954.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-33352C>G
c.970-33352C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269626
chr1:2269784 ACCTGTGG
others(173): Show 
ACCTGTGGCTGGCGTGGGTCTGGCGGGTCTGGTGGTGCCTGTGGCTGGCG
TGGGTCTGGCGGGTCTGGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGT
CTCGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGTCTGGTGGTGCCTGT
GGCTGGCGTGGGTCTGGCGGGTCTCGTGGTG
 A
A
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-33126_970-3294
others(4): Show 
c.970-33126_970-32947del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2269784
chr1:2269850 GGTGGTGC
others(29): Show 
GGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGTCTC
 G
G
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-33092_970-3305
others(40): Show 
c.970-33092_970-33057delCGTGGTGCCTGTGGCTGGCGTGGGTC
TGGCGGGTCT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2269850
chr1:2269868 C
C
 T
T
 261 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(258): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 264 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(261): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-33110C>T
c.970-33110C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269868
chr1:2269886 C
C
 G
G
 266 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(263): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 269 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(266): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-33092C>G
c.970-33092C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269886
chr1:2269958 C
C
 G
G
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-33020C>G
c.970-33020C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269958
chr1:2269959 G
G
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.970-33019G>A
c.970-33019G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269959
chr1:2269994 G
G
 C
C
 4 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
others(1): Show 
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0085g0263
 4 HG00280.hp2
HG03516.hp1
NA19043.hp1
others(1): Show 
HG00280.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-32984G>C
c.970-32984G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2269994
chr1:2270023 C
C
 T
T
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.970-32955C>T
c.970-32955C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270023
chr1:2270089 G
G
 A
A
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.970-32889G>A
c.970-32889G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270089
chr1:2270145 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-32833C>T
c.970-32833C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270145
chr1:2270160 A
A
 G
G
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.970-32818A>G
c.970-32818A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270160
chr1:2270221 G
G
 A
A
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-32757G>A
c.970-32757G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270221
chr1:2270301 T
T
 C
C
 90 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
 90 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01123.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-32677T>C
c.970-32677T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270301
chr1:2270303 G
G
 C
C
 4 a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0062g0257
others(1): Show 
a0001c0001t0014g0051
a0001c0001t0026g0050
a0001c0001t0062g0257
a0001c0010t0048g0052
 4 HG01884.hp2
HG02572.hp2
HG02622.hp2
others(1): Show 
HG01884.hp2
HG02572.hp2
HG02622.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-32675G>C
c.970-32675G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270303
chr1:2270305 G
G
 T
T
 15 a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
others(12): Show 
a0001c0001t0002g0049
a0001c0001t0010g0047
a0001c0001t0010g0048
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 16 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(13): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-32673G>T
c.970-32673G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270305
chr1:2270329 C
C
 A
A
 1 a0001c0001t0086g0286
a0001c0001t0086g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.970-32649C>A
c.970-32649C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270329
chr1:2270424 G
G
 A
A
 1 a0001c0001t0084g0112
a0001c0001t0084g0112
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.970-32554G>A
c.970-32554G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270424
chr1:2270462 C
C
 T
T
 1 a0001c0001t0005g0207
a0001c0001t0005g0207
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.970-32516C>T
c.970-32516C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270462
chr1:2270707 G
G
 C
C
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-32271G>C
c.970-32271G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270707
chr1:2270709 G
G
 A
A
 34 a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
others(31): Show 
a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
 35 HG00323.hp1
HG01074.hp1
HG01099.hp1
others(32): Show 
HG00323.hp1
HG01074.hp1
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02004.hp1
HG02074.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp2
NA18967.hp1
NA18995.hp1
NA19002.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-32269G>A
c.970-32269G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270709
chr1:2270877 G
G
 A
A
 3 a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0008g0111
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0008g0111
 3 HG00438.hp2
HG02071.hp2
HG03834.hp2
HG00438.hp2
HG02071.hp2
HG03834.hp2
 intron_variant MODIFIER c.970-32101G>A
c.970-32101G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270877
chr1:2270959 C
C
 T
T
 6 a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0046g0057
others(3): Show 
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0046g0057
a0001c0001t0063g0259
a0001c0006t0040g0053
a0001c0011t0039g0071
 6 HG02109.hp2
HG02280.hp1
HG03209.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG03209.hp2
HG03225.hp2
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-32019C>T
c.970-32019C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2270959
chr1:2271075 G
G
 A
A
 3 a0001c0001t0002g0084
a0001c0001t0010g0085
a0001c0001t0081g0083
a0001c0001t0002g0084
a0001c0001t0010g0085
a0001c0001t0081g0083
 3 HG02074.hp1
NA18980.hp1
NA18982.hp1
HG02074.hp1
NA18980.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-31903G>A
c.970-31903G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271075
chr1:2271133 C
C
 T
T
 105 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(102): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0014t0001g0174
 105 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(102): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-31845C>T
c.970-31845C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271133
chr1:2271217 C
C
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.970-31761C>A
c.970-31761C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271217
chr1:2271289 C
C
 G
G
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-31689C>G
c.970-31689C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271289
chr1:2271335 C
C
 T
T
 29 a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0004g0325
a0001c0001t0006g0065
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0022g0303
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0065g0312
 30 HG01169.hp2
HG01243.hp2
HG01515.hp2
others(27): Show 
HG01169.hp2
HG01243.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02004.hp1
HG02074.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02615.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18967.hp1
NA18995.hp1
NA20300.hp2
 intron_variant MODIFIER c.970-31643C>T
c.970-31643C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271335
chr1:2271355 A
A
 C
C
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.970-31623A>C
c.970-31623A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271355
chr1:2271448 G
G
 A
A
 75 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
others(72): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0088g0120
a0001c0005t0003g0137
 75 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(72): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01261.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02145.hp2
HG02165.hp2
HG02273.hp2
HG02300.hp2
HG02698.hp1
HG02735.hp2
HG03017.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18979.hp2
NA18982.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-31530G>A
c.970-31530G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271448
chr1:2271477 C
C
 T
T
 3 a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
 3 NA18945.hp2
NA18959.hp1
NA18991.hp1
NA18945.hp2
NA18959.hp1
NA18991.hp1
 intron_variant MODIFIER c.970-31501C>T
c.970-31501C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271477
chr1:2271528 T
T
 C
C
 236 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(233): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0318
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 238 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-31450T>C
c.970-31450T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271528
chr1:2271543 G
G
 A
A
 2 a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0047
a0001c0001t0010g0048
 2 HG00621.hp1
NA19082.hp1
HG00621.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-31435G>A
c.970-31435G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271543
chr1:2271586 G
G
 GACGCTCG
others(11): Show 
GACGCTCGCCTTTTGTGCT
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-31386_970-3136
others(22): Show 
c.970-31386_970-31369dupCGCCTTTTGTGCTACGCT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2271586
chr1:2271718 T
T
 TG
TG
 114 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(111): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
 114 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(111): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-31251dupG
c.970-31251dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2271718
chr1:2271728 T
T
 G
G
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.970-31250T>G
c.970-31250T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271728
chr1:2271729 A
A
 T
T
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.970-31249A>T
c.970-31249A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271729
chr1:2271730 G
G
 A
A
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.970-31248G>A
c.970-31248G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271730
chr1:2271784 C
C
 T
T
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-31194C>T
c.970-31194C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271784
chr1:2271793 G
G
 A
A
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-31185G>A
c.970-31185G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271793
chr1:2271928 A
A
 G
G
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-31050A>G
c.970-31050A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2271928
chr1:2272034 G
G
 C
C
 1 a0001c0001t0067g0097
a0001c0001t0067g0097
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.970-30944G>C
c.970-30944G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272034
chr1:2272051 C
C
 T
T
 106 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(103): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0014t0001g0174
 106 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(103): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-30927C>T
c.970-30927C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272051
chr1:2272078 C
C
 T
T
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-30900C>T
c.970-30900C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272078
chr1:2272231 C
C
 A
A
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-30747C>A
c.970-30747C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272231
chr1:2272519 C
C
 T
T
 2 a0001c0001t0046g0057
a0001c0011t0039g0071
a0001c0001t0046g0057
a0001c0011t0039g0071
 2 HG02280.hp1
HG06807.hp2
HG02280.hp1
HG06807.hp2
 intron_variant MODIFIER c.970-30459C>T
c.970-30459C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272519
chr1:2272540 G
G
 T
T
 2 a0001c0001t0035g0261
a0001c0001t0067g0097
a0001c0001t0035g0261
a0001c0001t0067g0097
 2 HG02818.hp1
HG02886.hp2
HG02818.hp1
HG02886.hp2
 intron_variant MODIFIER c.970-30438G>T
c.970-30438G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272540
chr1:2272670 A
A
 G
G
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-30308A>G
c.970-30308A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272670
chr1:2272687 G
G
 A
A
 2 a0001c0001t0035g0261
a0001c0001t0067g0097
a0001c0001t0035g0261
a0001c0001t0067g0097
 2 HG02818.hp1
HG02886.hp2
HG02818.hp1
HG02886.hp2
 intron_variant MODIFIER c.970-30291G>A
c.970-30291G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272687
chr1:2272743 C
C
 A
A
 1 a0001c0001t0036g0262
a0001c0001t0036g0262
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.970-30235C>A
c.970-30235C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272743
chr1:2272785 T
T
 C
C
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-30193T>C
c.970-30193T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272785
chr1:2272796 T
T
 G
G
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-30182T>G
c.970-30182T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272796
chr1:2272818 A
A
 ACCACGCC
others(15): Show 
ACCACGCCCCGAGCCTCCCCCTC
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.970-30143_970-3012
others(26): Show 
c.970-30143_970-30122dupCCCCTCCCACGCCCCGAGCCTC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2272818
chr1:2272850 G
G
 A
A
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-30128G>A
c.970-30128G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272850
chr1:2272886 C
C
 T
T
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.970-30092C>T
c.970-30092C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272886
chr1:2272895 G
G
 A
A
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-30083G>A
c.970-30083G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2272895
chr1:2273298 C
C
 T
T
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-29680C>T
c.970-29680C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273298
chr1:2273307 C
C
 G
G
 3 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0079g0128
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0079g0128
 3 HG00544.hp1
NA18950.hp2
NA18980.hp2
HG00544.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-29671C>G
c.970-29671C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273307
chr1:2273316 G
G
 A
A
 269 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(266): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 272 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(269): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-29662G>A
c.970-29662G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273316
chr1:2273324 C
C
 T
T
 3 a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
 3 NA18947.hp2
NA18962.hp1
NA18984.hp1
NA18947.hp2
NA18962.hp1
NA18984.hp1
 intron_variant MODIFIER c.970-29654C>T
c.970-29654C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273324
chr1:2273351 G
G
 A
A
 314 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(311): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 317 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(314): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-29627G>A
c.970-29627G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273351
chr1:2273445 G
G
 A
A
 2 a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0003t0020g0014
a0001c0003t0020g0015
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.970-29533G>A
c.970-29533G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273445
chr1:2273558 T
T
 C
C
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-29420T>C
c.970-29420T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273558
chr1:2273559 G
G
 T
T
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-29419G>T
c.970-29419G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273559
chr1:2273560 C
C
 G
G
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-29418C>G
c.970-29418C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273560
chr1:2273653 T
T
 G
G
 2 a0001c0001t0035g0261
a0001c0001t0067g0097
a0001c0001t0035g0261
a0001c0001t0067g0097
 2 HG02818.hp1
HG02886.hp2
HG02818.hp1
HG02886.hp2
 intron_variant MODIFIER c.970-29325T>G
c.970-29325T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273653
chr1:2273762 G
G
 T
T
 4 a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
others(1): Show 
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
a0001c0011t0039g0071
 4 HG02109.hp2
HG02280.hp1
HG03209.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03209.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-29216G>T
c.970-29216G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273762
chr1:2273835 G
G
 A
A
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-29143G>A
c.970-29143G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273835
chr1:2273872 T
T
 C
C
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0016g0267
a0001c0012t0011g0266
 7 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03209.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-29106T>C
c.970-29106T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273872
chr1:2273920 C
C
 T
T
 5 a0001c0001t0003g0214
a0001c0001t0003g0224
a0001c0001t0003g0234
others(2): Show 
a0001c0001t0003g0214
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0010g0208
 5 HG00642.hp2
HG00741.hp2
HG01109.hp1
others(2): Show 
HG00642.hp2
HG00741.hp2
HG01109.hp1
HG01256.hp2
HG03491.hp1
 intron_variant MODIFIER c.970-29058C>T
c.970-29058C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273920
chr1:2273951 C
C
 T
T
 1 a0001c0001t0042g0319
a0001c0001t0042g0319
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.970-29027C>T
c.970-29027C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2273951
chr1:2274030 G
G
 T
T
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-28948G>T
c.970-28948G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274030
chr1:2274088 A
A
 G
G
 271 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(268): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 273 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(270): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-28890A>G
c.970-28890A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274088
chr1:2274109 A
A
 C
C
 277 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(274): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 279 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(276): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-28869A>C
c.970-28869A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274109
chr1:2274128 A
A
 G
G
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-28850A>G
c.970-28850A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274128
chr1:2274142 C
C
 A
A
 163 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(160): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0098
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0014t0001g0174
 164 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(161): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04184.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18998.hp1
NA18998.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-28836C>A
c.970-28836C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274142
chr1:2274325 G
G
 A
A
 6 a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0001t0016g0317
others(3): Show 
a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0020g0167
a0001c0001t0047g0293
a0001c0014t0001g0174
 6 HG02897.hp1
HG02922.hp2
HG03225.hp1
others(3): Show 
HG02897.hp1
HG02922.hp2
HG03225.hp1
HG03579.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-28653G>A
c.970-28653G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274325
chr1:2274346 C
C
 T
T
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.970-28632C>T
c.970-28632C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274346
chr1:2274415 G
G
 T
T
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-28563G>T
c.970-28563G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274415
chr1:2274504 C
C
 T
T
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-28474C>T
c.970-28474C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274504
chr1:2274517 C
C
 T
T
 2 a0001c0001t0002g0077
a0001c0001t0070g0074
a0001c0001t0002g0077
a0001c0001t0070g0074
 2 HG02559.hp2
HG03139.hp2
HG02559.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-28461C>T
c.970-28461C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274517
chr1:2274574 A
A
 G
G
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-28404A>G
c.970-28404A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274574
chr1:2274602 C
C
 T
T
 5 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(2): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0076g0113
a0001c0001t0079g0128
 5 HG00544.hp1
HG00673.hp2
NA18944.hp1
others(2): Show 
HG00544.hp1
HG00673.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-28376C>T
c.970-28376C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274602
chr1:2274604 C
C
 T
T
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-28374C>T
c.970-28374C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274604
chr1:2274946 C
C
 T
T
 28 a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0001g0278
others(25): Show 
a0001c0001t0001g0004
a0001c0001t0001g0033
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0277
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0031g0321
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0007t0078g0269
 28 HG00609.hp2
HG01074.hp2
HG02071.hp1
others(25): Show 
HG00609.hp2
HG01074.hp2
HG02071.hp1
HG02698.hp2
HG02738.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03927.hp2
NA18940.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18977.hp1
NA18983.hp2
NA18984.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.970-28032C>T
c.970-28032C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2274946
chr1:2275005 A
A
 G
G
 141 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0018
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0007t0078g0269
a0001c0014t0001g0174
 141 HG00099.hp1
HG00280.hp1
HG00423.hp2
others(138): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01261.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03927.hp2
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-27973A>G
c.970-27973A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275005
chr1:2275163 G
G
 C
C
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-27815G>C
c.970-27815G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275163
chr1:2275251 C
C
 T
T
 2 a0001c0001t0005g0253
a0001c0008t0021g0252
a0001c0001t0005g0253
a0001c0008t0021g0252
 2 HG01070.hp1
HG03239.hp2
HG01070.hp1
HG03239.hp2
 intron_variant MODIFIER c.970-27727C>T
c.970-27727C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275251
chr1:2275265 G
G
 A
A
 1 a0001c0001t0067g0097
a0001c0001t0067g0097
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.970-27713G>A
c.970-27713G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275265
chr1:2275272 C
C
 T
T
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-27706C>T
c.970-27706C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275272
chr1:2275281 G
G
 A
A
 7 a0001c0001t0002g0247
a0002c0002t0002g0002
a0002c0002t0002g0189
others(4): Show 
a0001c0001t0002g0247
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 8 HG01256.hp1
HG01258.hp1
HG01515.hp1
others(5): Show 
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG02015.hp2
HG02300.hp1
HG02486.hp2
HG04115.hp2
HG04199.hp2
 intron_variant MODIFIER c.970-27697G>A
c.970-27697G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275281
chr1:2275408 G
G
 A
A
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-27570G>A
c.970-27570G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275408
chr1:2275412 T
T
 C
C
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-27566T>C
c.970-27566T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275412
chr1:2275449 C
C
 T
T
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-27529C>T
c.970-27529C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275449
chr1:2275511 G
G
 A
A
 6 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(3): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0012g0258
a0001c0001t0076g0113
a0001c0001t0079g0128
 6 HG00544.hp1
HG00673.hp2
HG03209.hp2
others(3): Show 
HG00544.hp1
HG00673.hp2
HG03209.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-27467G>A
c.970-27467G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275511
chr1:2275599 C
C
 T
T
 2 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0020
a0001c0001t0001g0021
 2 NA18946.hp2
NA19007.hp1
NA18946.hp2
NA19007.hp1
 intron_variant MODIFIER c.970-27379C>T
c.970-27379C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275599
chr1:2275670 A
A
 G
G
 2 a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0003t0020g0014
a0001c0003t0020g0015
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.970-27308A>G
c.970-27308A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275670
chr1:2275673 C
C
 T
T
 2 a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0064g0311
a0001c0001t0065g0312
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.970-27305C>T
c.970-27305C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275673
chr1:2275703 G
G
 A
A
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-27275G>A
c.970-27275G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275703
chr1:2275995 G
G
 A
A
 3 a0001c0001t0001g0132
a0001c0001t0006g0142
a0001c0001t0014g0144
a0001c0001t0001g0132
a0001c0001t0006g0142
a0001c0001t0014g0144
 3 HG03017.hp1
HG03669.hp2
HG04115.hp1
HG03017.hp1
HG03669.hp2
HG04115.hp1
 intron_variant MODIFIER c.970-26983G>A
c.970-26983G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2275995
chr1:2276015 G
G
 A
A
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.970-26963G>A
c.970-26963G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276015
chr1:2276041 C
C
 G
G
 124 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
others(121): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
 124 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(121): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp2
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp2
HG02071.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-26937C>G
c.970-26937C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276041
chr1:2276074 T
T
 C
C
 8 a0001c0001t0001g0240
a0001c0001t0002g0242
a0001c0001t0003g0241
others(5): Show 
a0001c0001t0001g0240
a0001c0001t0002g0242
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0008g0239
a0001c0001t0027g0245
a0001c0001t0059g0244
 8 HG00544.hp2
NA18947.hp1
NA18954.hp2
others(5): Show 
HG00544.hp2
NA18947.hp1
NA18954.hp2
NA18983.hp1
NA19068.hp1
NA19074.hp2
NA19088.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-26904T>C
c.970-26904T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276074
chr1:2276225 G
G
 A
A
 2 a0001c0001t0035g0261
a0001c0001t0067g0097
a0001c0001t0035g0261
a0001c0001t0067g0097
 2 HG02818.hp1
HG02886.hp2
HG02818.hp1
HG02886.hp2
 intron_variant MODIFIER c.970-26753G>A
c.970-26753G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276225
chr1:2276290 C
C
 T
T
 5 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(2): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0076g0113
a0001c0001t0079g0128
 5 HG00544.hp1
HG00673.hp2
NA18944.hp1
others(2): Show 
HG00544.hp1
HG00673.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-26688C>T
c.970-26688C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276290
chr1:2276344 GT
GT
 G
G
 5 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(2): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0076g0113
a0001c0001t0079g0128
 5 HG00544.hp1
HG00673.hp2
NA18944.hp1
others(2): Show 
HG00544.hp1
HG00673.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-26631delT
c.970-26631delT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2276344
chr1:2276597 C
C
 T
T
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-26381C>T
c.970-26381C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276597
chr1:2276659 G
G
 A
A
 1 a0001c0001t0031g0321
a0001c0001t0031g0321
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.970-26319G>A
c.970-26319G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276659
chr1:2276684 C
C
 T
T
 7 a0001c0001t0015g0236
a0002c0002t0002g0002
a0002c0002t0002g0189
others(4): Show 
a0001c0001t0015g0236
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 8 HG01256.hp1
HG01258.hp1
HG01515.hp1
others(5): Show 
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG02300.hp1
HG02486.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-26294C>T
c.970-26294C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276684
chr1:2276786 C
C
 T
T
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-26192C>T
c.970-26192C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276786
chr1:2276795 G
G
 A
A
 2 a0001c0001t0001g0078
a0001c0001t0044g0292
a0001c0001t0001g0078
a0001c0001t0044g0292
 2 HG01243.hp2
HG02723.hp1
HG01243.hp2
HG02723.hp1
 intron_variant MODIFIER c.970-26183G>A
c.970-26183G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276795
chr1:2276850 G
G
 A
A
 1 a0001c0001t0010g0092
a0001c0001t0010g0092
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.970-26128G>A
c.970-26128G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276850
chr1:2276977 C
C
 T
T
 4 a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
others(1): Show 
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0007g0281
a0001c0001t0017g0272
 4 NA18947.hp2
NA18962.hp1
NA18977.hp1
others(1): Show 
NA18947.hp2
NA18962.hp1
NA18977.hp1
NA18984.hp1
 intron_variant MODIFIER c.970-26001C>T
c.970-26001C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2276977
chr1:2277127 C
C
 T
T
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-25851C>T
c.970-25851C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277127
chr1:2277275 G
G
 A
A
 4 a0001c0001t0001g0195
a0001c0001t0003g0197
a0001c0001t0012g0194
others(1): Show 
a0001c0001t0001g0195
a0001c0001t0003g0197
a0001c0001t0012g0194
a0001c0001t0015g0201
 4 HG00673.hp1
NA18942.hp2
NA19012.hp1
others(1): Show 
HG00673.hp1
NA18942.hp2
NA19012.hp1
NA19081.hp2
 intron_variant MODIFIER c.970-25703G>A
c.970-25703G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277275
chr1:2277282 C
C
 T
T
 1 a0001c0001t0023g0091
a0001c0001t0023g0091
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.970-25696C>T
c.970-25696C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277282
chr1:2277312 A
A
 C
C
 46 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(43): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0230
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
 46 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(43): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02698.hp1
HG03688.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-25666A>C
c.970-25666A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277312
chr1:2277469 T
T
 G
G
 24 a0001c0001t0002g0084
a0001c0001t0002g0129
a0001c0001t0002g0247
others(21): Show 
a0001c0001t0002g0084
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0081g0083
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 25 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(22): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-25509T>G
c.970-25509T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277469
chr1:2277493 G
G
 A
A
 2 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0093
a0001c0001t0002g0094
 2 HG03041.hp2
HG03471.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-25485G>A
c.970-25485G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277493
chr1:2277526 C
C
 T
T
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.970-25452C>T
c.970-25452C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277526
chr1:2277619 C
C
 T
T
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.970-25359C>T
c.970-25359C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277619
chr1:2277657 C
C
 CGCACACA
others(64): Show 
CGCACACACCTGCACTCACACATTCATCAGGACCCATGGGCACACGTGCA
CACACACGTCAGTCCTGTGGGT
 8 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(5): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
 8 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02809.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-25266_970-2519
others(75): Show 
c.970-25266_970-25196dupACGTCAGTCCTGTGGGTGCACACACC
TGCACTCACACATTCATCAGGACCCATGGGCACACGTGCACACAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2277657
chr1:2277796 G
G
 GCGCACAC
others(11): Show 
GCGCACACACCTGCACTCA
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-25158_970-2514
others(22): Show 
c.970-25158_970-25141dupACACCTGCACTCACGCAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2277796
chr1:2277834 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-25144G>A
c.970-25144G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277834
chr1:2277964 C
C
 T
T
 5 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(2): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0076g0113
a0001c0001t0079g0128
 5 HG00544.hp1
HG00673.hp2
NA18944.hp1
others(2): Show 
HG00544.hp1
HG00673.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-25014C>T
c.970-25014C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2277964
chr1:2278341 G
G
 A
A
 21 a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0146
others(18): Show 
a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0002g0123
a0001c0001t0003g0116
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0007g0133
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0077g0011
 21 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(18): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG02145.hp2
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03942.hp1
NA18747.hp1
NA18940.hp1
NA18945.hp1
NA18956.hp1
NA18964.hp2
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp2
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-24637G>A
c.970-24637G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278341
chr1:2278391 T
T
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.970-24587T>G
c.970-24587T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278391
chr1:2278444 G
G
 C
C
 2 a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0003t0020g0014
a0001c0003t0020g0015
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.970-24534G>C
c.970-24534G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278444
chr1:2278656 CT
CT
 C
C
 9 a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0004g0115
others(6): Show 
a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0012g0258
a0001c0001t0063g0259
a0001c0001t0076g0113
a0001c0001t0079g0128
 9 HG00544.hp1
HG00673.hp2
HG02015.hp1
others(6): Show 
HG00544.hp1
HG00673.hp2
HG02015.hp1
HG02109.hp2
HG03209.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-24311delT
c.970-24311delT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2278656
chr1:2278739 G
G
 A
A
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-24239G>A
c.970-24239G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278739
chr1:2278742 G
G
 A
A
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-24236G>A
c.970-24236G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278742
chr1:2278778 C
C
 G
G
 5 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
others(2): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
 5 HG02055.hp1
HG02572.hp1
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02572.hp1
HG02818.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-24200C>G
c.970-24200C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278778
chr1:2278819 G
G
 A
A
 1 a0001c0001t0085g0263
a0001c0001t0085g0263
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.970-24159G>A
c.970-24159G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278819
chr1:2278836 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-24142G>A
c.970-24142G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278836
chr1:2278996 A
A
 C
C
 3 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
 3 HG03516.hp1
NA19043.hp1
NA21309.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-23982A>C
c.970-23982A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2278996
chr1:2279213 C
C
 T
T
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-23765C>T
c.970-23765C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2279213
chr1:2279329 G
G
 A
A
 21 a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0146
others(18): Show 
a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0002g0123
a0001c0001t0003g0116
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0007g0133
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0077g0011
 21 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(18): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG02145.hp2
HG02735.hp2
HG03669.hp1
HG03688.hp2
HG03942.hp1
NA18747.hp1
NA18940.hp1
NA18945.hp1
NA18956.hp1
NA18964.hp2
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp2
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-23649G>A
c.970-23649G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2279329
chr1:2279397 G
G
 C
C
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-23581G>C
c.970-23581G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2279397
chr1:2279641 G
G
 T
T
 2 a0001c0001t0001g0166
a0001c0001t0023g0139
a0001c0001t0001g0166
a0001c0001t0023g0139
 2 HG03831.hp2
HG03927.hp1
HG03831.hp2
HG03927.hp1
 intron_variant MODIFIER c.970-23337G>T
c.970-23337G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2279641
chr1:2279674 G
G
 A
A
 1 a0001c0001t0002g0049
a0001c0001t0002g0049
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.970-23304G>A
c.970-23304G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2279674
chr1:2280033 C
C
 T
T
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-22945C>T
c.970-22945C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280033
chr1:2280204 CT
CT
 C
C
 19 a0001c0001t0001g0299
a0001c0001t0002g0326
a0001c0001t0004g0008
others(16): Show 
a0001c0001t0001g0299
a0001c0001t0002g0326
a0001c0001t0004g0008
a0001c0001t0005g0232
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0052g0007
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0014t0001g0174
 19 HG01099.hp2
HG01891.hp1
HG02630.hp1
others(16): Show 
HG01099.hp2
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
NA18906.hp1
NA18982.hp2
NA19030.hp1
NA19064.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-22773delT
c.970-22773delT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280204
chr1:2280205 T
T
 A
A
 77 a0001c0001t0001g0010
a0001c0001t0001g0018
a0001c0001t0001g0020
others(74): Show 
a0001c0001t0001g0010
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0229
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0046g0057
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0083g0231
 77 HG00099.hp1
HG00280.hp1
HG00423.hp2
others(74): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp2
HG00438.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01261.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19066.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22773T>A
c.970-22773T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280205
chr1:2280290 C
C
 T
T
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.970-22688C>T
c.970-22688C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280290
chr1:2280291 G
G
 A
A
 8 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(5): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0007g0098
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0069g0104
 8 HG01109.hp2
HG01884.hp1
HG02615.hp2
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG02922.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-22687G>A
c.970-22687G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280291
chr1:2280375 C
C
 CA
CA
 80 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0205
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0143
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0007t0078g0269
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 83 HG00609.hp2
HG00621.hp1
HG00642.hp1
others(80): Show 
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG01074.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01978.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18940.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18995.hp1
NA19002.hp1
NA19007.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19082.hp1
NA20129.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-22590dupA
c.970-22590dupA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280375
chr1:2280410 A
A
 G
G
 208 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 211 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(208): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-22568A>G
c.970-22568A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280410
chr1:2280505 A
A
 G
G
 211 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(208): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 214 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(211): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-22473A>G
c.970-22473A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280505
chr1:2280570 TGAGAAGA
others(295): Show 
TGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAAGATGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCC
 T
T
 1 a0001c0001t0009g0307
a0001c0001t0009g0307
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-22372_970-2207
others(4): Show 
c.970-22372_970-22071del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280570
chr1:2280588 C
C
 T
T
 1 a0001c0001t0001g0299
a0001c0001t0001g0299
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.970-22390C>T
c.970-22390C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280588
chr1:2280606 A
A
 G
G
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-22372A>G
c.970-22372A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280606
chr1:2280609 T
T
 C
C
 3 a0001c0001t0014g0051
a0001c0001t0035g0261
a0001c0006t0040g0053
a0001c0001t0014g0051
a0001c0001t0035g0261
a0001c0006t0040g0053
 3 HG01884.hp2
HG02818.hp1
HG03225.hp2
HG01884.hp2
HG02818.hp1
HG03225.hp2
 intron_variant MODIFIER c.970-22369T>C
c.970-22369T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280609
chr1:2280609 TGCCCGAG
others(79): Show 
TGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAC
 T
T
 1 a0001c0001t0075g0023
a0001c0001t0075g0023
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.970-22328_970-2224
others(90): Show 
c.970-22328_970-22243delGACACCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280609
chr1:2280609 TGCCCGAG
others(209): Show 
TGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGAC
 T
T
 1 a0001c0001t0054g0159
a0001c0001t0054g0159
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.970-22325_970-2211
others(4): Show 
c.970-22325_970-22110del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280609
chr1:2280610 G
G
 A
A
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-22368G>A
c.970-22368G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280610
chr1:2280625 C
C
 T
T
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.970-22353C>T
c.970-22353C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280625
chr1:2280631 C
C
 T
T
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-22347C>T
c.970-22347C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280631
chr1:2280648 A
A
 C
C
 1 a0001c0001t0023g0139
a0001c0001t0023g0139
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.970-22330A>C
c.970-22330A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280648
chr1:2280652 C
C
 A
A
 6 a0001c0001t0002g0129
a0001c0001t0003g0046
a0001c0001t0003g0130
others(3): Show 
a0001c0001t0002g0129
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0010g0047
a0001c0001t0018g0147
 6 HG00621.hp1
HG02027.hp1
NA18967.hp2
others(3): Show 
HG00621.hp1
HG02027.hp1
NA18967.hp2
NA18971.hp2
NA19002.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-22326C>A
c.970-22326C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280652
chr1:2280653 A
A
 G
G
 42 a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0001g0283
others(39): Show 
a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0129
a0001c0001t0003g0031
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0010g0047
a0001c0001t0012g0160
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0023g0139
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0051g0276
a0001c0001t0057g0288
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0007t0078g0269
 42 HG00609.hp2
HG00621.hp1
HG01074.hp2
others(39): Show 
HG00609.hp2
HG00621.hp1
HG01074.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG02027.hp1
HG02109.hp2
HG02165.hp1
HG02300.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
NA18940.hp2
NA18946.hp1
NA18947.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18984.hp1
NA19002.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-22325A>G
c.970-22325A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280653
chr1:2280653 ACCCGAGA
others(166): Show 
ACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACG
 A
A
 3 a0001c0001t0011g0003
a0001c0001t0015g0201
a0001c0012t0011g0266
a0001c0001t0011g0003
a0001c0001t0015g0201
a0001c0012t0011g0266
 4 HG00673.hp1
HG02976.hp2
NA19043.hp2
others(1): Show 
HG00673.hp1
HG02976.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-22242_970-2207
others(4): Show 
c.970-22242_970-22070del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280653
chr1:2280653 ACCCGAGA
others(209): Show 
ACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA
TCTTCAGAGAGAGGACG
 A
A
 18 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0152
others(15): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0152
a0001c0001t0003g0204
a0001c0001t0003g0251
a0001c0001t0004g0151
a0001c0001t0006g0300
a0001c0001t0009g0099
a0001c0001t0016g0267
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0077g0011
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 18 HG00621.hp2
HG01074.hp1
HG01243.hp1
others(15): Show 
HG00621.hp2
HG01074.hp1
HG01243.hp1
HG01346.hp1
HG01891.hp2
HG02486.hp1
HG02647.hp2
HG02723.hp2
HG02922.hp1
HG03017.hp1
HG03540.hp1
NA18522.hp2
NA18940.hp1
NA18956.hp1
NA19066.hp1
NA19074.hp2
NA19079.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-22242_970-2202
others(4): Show 
c.970-22242_970-22027del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280653
chr1:2280653 ACCCGAGA
others(252): Show 
ACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACG
 A
A
 29 a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0299
others(26): Show 
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0002g0123
a0001c0001t0002g0242
a0001c0001t0002g0320
a0001c0001t0003g0246
a0001c0001t0004g0220
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0310
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0014g0144
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0046g0057
a0001c0001t0059g0244
a0001c0001t0074g0192
a0001c0001t0084g0112
a0001c0014t0001g0174
 29 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(26): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00733.hp1
HG01257.hp1
HG01258.hp2
HG01517.hp1
HG02071.hp2
HG02258.hp2
HG02615.hp1
HG02717.hp1
HG02897.hp1
HG02922.hp2
HG03225.hp1
HG03490.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18947.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-22242_970-2198
others(4): Show 
c.970-22242_970-21984del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280653
chr1:2280653 ACCCGAGA
others(295): Show 
ACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ACG
 A
A
 5 a0001c0001t0001g0254
a0001c0001t0008g0193
a0001c0001t0008g0202
others(2): Show 
a0001c0001t0001g0254
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0025g0122
 5 HG00544.hp2
HG01981.hp1
NA18945.hp2
others(2): Show 
HG00544.hp2
HG01981.hp1
NA18945.hp2
NA18964.hp2
NA18991.hp1
 intron_variant MODIFIER c.970-22242_970-2194
others(4): Show 
c.970-22242_970-21941del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280653
chr1:2280661 A
A
 AGACAGGC
others(76): Show 
AGACAGGCGGCGGCGCGATCTTCAAGAGAGGACGCCCGAGAAGACTGCGG
CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-22303_970-2230
others(87): Show 
c.970-22303_970-22302insCGATCTTCAAGAGAGGACGCCCGAGA
AGACTGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC
GGCGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280661
chr1:2280661 A
A
 G
G
 1 a0001c0001t0023g0139
a0001c0001t0023g0139
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.970-22317A>G
c.970-22317A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280661
chr1:2280665 A
A
 AGGC
AGGC
 17 a0001c0001t0001g0004
a0001c0001t0003g0031
a0001c0001t0003g0273
others(14): Show 
a0001c0001t0001g0004
a0001c0001t0003g0031
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0008g0279
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0066g0282
a0001c0001t0086g0286
 17 HG02698.hp2
HG02738.hp1
HG03017.hp2
others(14): Show 
HG02698.hp2
HG02738.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp1
HG03704.hp2
NA18940.hp2
NA18959.hp2
NA18962.hp1
NA18977.hp1
NA18984.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19064.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.970-22302_970-2230
others(7): Show 
c.970-22302_970-22300dupGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280665
chr1:2280665 A
A
 AGGCGGCG
others(39): Show 
AGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-22302_970-2225
others(50): Show 
c.970-22302_970-22257dupGCGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGCGGCGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280665
chr1:2280666 G
G
 T
T
 3 a0001c0001t0003g0158
a0001c0001t0007g0162
a0001c0001t0012g0160
a0001c0001t0003g0158
a0001c0001t0007g0162
a0001c0001t0012g0160
 3 HG01952.hp1
HG01952.hp2
HG02300.hp2
HG01952.hp1
HG01952.hp2
HG02300.hp2
 intron_variant MODIFIER c.970-22312G>T
c.970-22312G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280666
chr1:2280668 CGGCGGCG
others(206): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACA
 C
C
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-22299_970-2208
others(4): Show 
c.970-22299_970-22087del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280668
chr1:2280671 C
C
 T
T
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-22307C>T
c.970-22307C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280671
chr1:2280674 CGGCGATC
others(77): Show 
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT
 C
C
 4 a0001c0001t0001g0278
a0001c0001t0007g0281
a0001c0001t0031g0321
others(1): Show 
a0001c0001t0001g0278
a0001c0001t0007g0281
a0001c0001t0031g0321
a0001c0001t0057g0288
 4 HG01074.hp2
NA18947.hp2
NA19062.hp2
others(1): Show 
HG01074.hp2
NA18947.hp2
NA19062.hp2
NA19066.hp2
 intron_variant MODIFIER c.970-22299_970-2221
others(88): Show 
c.970-22299_970-22216delATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280674
chr1:2280674 CGGCGATC
others(120): Show 
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGT
 C
C
 3 a0001c0001t0001g0283
a0001c0001t0003g0270
a0001c0007t0078g0269
a0001c0001t0001g0283
a0001c0001t0003g0270
a0001c0007t0078g0269
 3 HG00609.hp2
NA18946.hp1
NA18961.hp1
HG00609.hp2
NA18946.hp1
NA18961.hp1
 intron_variant MODIFIER c.970-22299_970-2217
others(4): Show 
c.970-22299_970-22173del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280674
chr1:2280677 CGATCTTC
others(123): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGA
 C
C
 10 a0001c0001t0002g0105
a0001c0001t0003g0032
a0001c0001t0003g0280
others(7): Show 
a0001c0001t0002g0105
a0001c0001t0003g0032
a0001c0001t0003g0280
a0001c0001t0004g0325
a0001c0001t0005g0161
a0001c0001t0006g0142
a0001c0001t0009g0308
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0082g0156
 10 HG01109.hp2
HG01993.hp2
HG02145.hp2
others(7): Show 
HG01109.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp2
HG02886.hp2
HG03540.hp2
HG03669.hp2
NA18612.hp1
NA18964.hp1
NA19070.hp1
 intron_variant MODIFIER c.970-22242_970-2211
others(4): Show 
c.970-22242_970-22113del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280677
chr1:2280691 A
A
 C
C
 2 a0001c0001t0001g0240
a0001c0001t0023g0139
a0001c0001t0001g0240
a0001c0001t0023g0139
 2 HG03927.hp1
NA19068.hp1
HG03927.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-22287A>C
c.970-22287A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280691
chr1:2280695 C
C
 A
A
 5 a0001c0001t0001g0121
a0001c0001t0002g0154
a0001c0001t0004g0115
others(2): Show 
a0001c0001t0001g0121
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0079g0128
 5 HG00544.hp1
NA18747.hp1
NA18944.hp1
others(2): Show 
HG00544.hp1
NA18747.hp1
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-22283C>A
c.970-22283C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280695
chr1:2280696 G
G
 A
A
 3 a0001c0001t0003g0158
a0001c0001t0007g0162
a0001c0001t0012g0160
a0001c0001t0003g0158
a0001c0001t0007g0162
a0001c0001t0012g0160
 3 HG01952.hp1
HG01952.hp2
HG02300.hp2
HG01952.hp1
HG01952.hp2
HG02300.hp2
 intron_variant MODIFIER c.970-22282G>A
c.970-22282G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280696
chr1:2280704 A
A
 G
G
 8 a0001c0001t0001g0240
a0001c0001t0002g0129
a0001c0001t0003g0046
others(5): Show 
a0001c0001t0001g0240
a0001c0001t0002g0129
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0010g0047
a0001c0001t0018g0147
a0001c0001t0023g0139
 8 HG00621.hp1
HG02027.hp1
HG03927.hp1
others(5): Show 
HG00621.hp1
HG02027.hp1
HG03927.hp1
NA18967.hp2
NA18971.hp2
NA19002.hp1
NA19063.hp2
NA19068.hp1
 intron_variant MODIFIER c.970-22274A>G
c.970-22274A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280704
chr1:2280708 A
A
 AGGC
AGGC
 9 a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0002g0093
others(6): Show 
a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0011t0039g0071
 9 HG02004.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG02004.hp1
HG02280.hp1
HG02622.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
 intron_variant MODIFIER c.970-22259_970-2225
others(7): Show 
c.970-22259_970-22257dupGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280708
chr1:2280709 G
G
 T
T
 15 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0326
others(12): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0326
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0012g0160
a0001c0001t0024g0005
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0010t0048g0052
 15 HG01891.hp1
HG01952.hp1
HG02572.hp2
others(12): Show 
HG01891.hp1
HG01952.hp1
HG02572.hp2
HG02630.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
NA18954.hp2
NA18983.hp1
 intron_variant MODIFIER c.970-22269G>T
c.970-22269G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280709
chr1:2280711 CGGCGGCG
others(120): Show 
CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACA
 C
C
 3 a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0006g0080
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0006g0080
 3 NA18967.hp1
NA18995.hp1
NA20805.hp1
NA18967.hp1
NA18995.hp1
NA20805.hp1
 intron_variant MODIFIER c.970-22256_970-2213
others(4): Show 
c.970-22256_970-22130del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280711
chr1:2280711 CGGCGGCG
others(163): Show 
CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA
GAGAGGACGCCCGAGAAGACA
 C
C
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.970-22256_970-2208
others(4): Show 
c.970-22256_970-22087del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280711
chr1:2280711 CGGCGGCG
others(292): Show 
CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA
 C
C
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.970-22256_970-2195
others(4): Show 
c.970-22256_970-21958del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280711
chr1:2280714 C
C
 T
T
 5 a0001c0001t0001g0004
a0001c0001t0002g0318
a0001c0001t0007g0004
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0002g0318
a0001c0001t0007g0004
a0001c0001t0042g0319
a0001c0001t0075g0023
 5 HG00438.hp1
HG03491.hp2
HG03492.hp1
others(2): Show 
HG00438.hp1
HG03491.hp2
HG03492.hp1
HG03834.hp1
NA19002.hp2
 intron_variant MODIFIER c.970-22264C>T
c.970-22264C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280714
chr1:2280714 CGGCGGCG
others(80): Show 
CGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
 C
C
 4 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(1): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0079g0128
 4 HG00544.hp1
NA18944.hp1
NA18950.hp2
others(1): Show 
HG00544.hp1
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-22258_970-2217
others(91): Show 
c.970-22258_970-22172delCGATCTTCAGAGAGAGAGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280714
chr1:2280717 C
C
 T
T
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-22261C>T
c.970-22261C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280717
chr1:2280717 CGGCGATC
others(34): Show 
CGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT
 C
C
 1 a0001c0001t0010g0092
a0001c0001t0010g0092
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.970-22256_970-2221
others(45): Show 
c.970-22256_970-22216delATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280717
chr1:2280717 CGGCGATC
others(77): Show 
CGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
 C
C
 2 a0001c0001t0006g0065
a0001c0001t0009g0095
a0001c0001t0006g0065
a0001c0001t0009g0095
 2 HG02074.hp2
HG02818.hp2
HG02074.hp2
HG02818.hp2
 intron_variant MODIFIER c.970-22256_970-2217
others(88): Show 
c.970-22256_970-22173delATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280717
chr1:2280720 C
C
 A
A
 6 a0001c0001t0001g0004
a0001c0001t0001g0121
a0001c0001t0002g0318
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0121
a0001c0001t0002g0318
a0001c0001t0007g0004
a0001c0001t0042g0319
a0001c0001t0075g0023
 6 HG00438.hp1
HG03491.hp2
HG03492.hp1
others(3): Show 
HG00438.hp1
HG03491.hp2
HG03492.hp1
HG03834.hp1
NA18747.hp1
NA19002.hp2
 intron_variant MODIFIER c.970-22258C>A
c.970-22258C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(360): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGA
 1 a0001c0001t0029g0056
a0001c0001t0029g0056
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(371): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(404): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGA
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(415): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(424): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGA
GAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
 1 a0002c0015t0002g0185
a0002c0015t0002g0185
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(435): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(317): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(328): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTGAGA
GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(774): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
 1 a0001c0001t0015g0126
a0001c0001t0015g0126
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(785): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA
GACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(360): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAG
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGA
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(371): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(360): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGA
 2 a0001c0001t0001g0016
a0001c0001t0015g0136
a0001c0001t0001g0016
a0001c0001t0015g0136
 2 HG04204.hp1
NA18944.hp2
HG04204.hp1
NA18944.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(371): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 C
C
 CGATCTTC
others(404): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGA
 1 a0001c0001t0018g0149
a0001c0001t0018g0149
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(415): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 CGATCTTC
others(37): Show 
CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
 C
C
 10 a0001c0001t0001g0205
a0001c0001t0002g0081
a0001c0001t0003g0158
others(7): Show 
a0001c0001t0001g0205
a0001c0001t0002g0081
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0012g0067
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0058g0297
a0001c0001t0086g0286
a0003c0013t0032g0178
 10 HG00738.hp2
HG01109.hp1
HG01123.hp2
others(7): Show 
HG00738.hp2
HG01109.hp1
HG01123.hp2
HG01952.hp2
HG02559.hp1
HG03017.hp2
HG03654.hp2
NA19088.hp1
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-22242_970-2219
others(48): Show 
c.970-22242_970-22199delAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 CGATCTTC
others(80): Show 
CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
 C
C
 15 a0001c0001t0001g0271
a0001c0001t0002g0129
a0001c0001t0004g0009
others(12): Show 
a0001c0001t0001g0271
a0001c0001t0002g0129
a0001c0001t0004g0009
a0001c0001t0006g0324
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0076g0113
a0001c0001t0087g0168
 15 HG00673.hp2
HG01169.hp2
HG01261.hp1
others(12): Show 
HG00673.hp2
HG01169.hp2
HG01261.hp1
HG02155.hp2
HG02630.hp2
HG02809.hp1
HG02976.hp1
HG03130.hp2
HG03139.hp1
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG06807.hp1
NA18971.hp2
NA19068.hp2
 intron_variant MODIFIER c.970-22242_970-2215
others(91): Show 
c.970-22242_970-22156delAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 CGATCTTC
others(1028): Show 
CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
 C
C
 1 a0001c0001t0013g0060
a0001c0001t0013g0060
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.970-22242_970-2120
others(4): Show 
c.970-22242_970-21208del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280720 CGATCTTC
others(1114): Show 
CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGA
 C
C
 2 a0001c0001t0013g0059
a0001c0001t0060g0058
a0001c0001t0013g0059
a0001c0001t0060g0058
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.970-22242_970-2112
others(4): Show 
c.970-22242_970-21122del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280720
chr1:2280731 G
G
 GAGCGGAC
others(32): Show 
GAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTC
 1 a0001c0001t0003g0291
a0001c0001t0003g0291
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.970-22245_970-2224
others(43): Show 
c.970-22245_970-22244insCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280731
chr1:2280734 A
A
 C
C
 12 a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0012g0160
others(9): Show 
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0012g0160
a0001c0001t0024g0005
a0001c0001t0050g0309
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
 12 HG01891.hp1
HG01952.hp1
HG02258.hp1
others(9): Show 
HG01891.hp1
HG01952.hp1
HG02258.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
NA18954.hp2
NA18983.hp1
 intron_variant MODIFIER c.970-22244A>C
c.970-22244A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280734
chr1:2280735 G
G
 GGACGCCC
others(488): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0005g0268
a0001c0001t0005g0268
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(499): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(121): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGC
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(132): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(316): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0003g0044
a0001c0001t0003g0044
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(327): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(552): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAC
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(563): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(164): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGA
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(175): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(508): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCG
GAGATCTTCAGAGAGA
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(519): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC
GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(207): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGA
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(218): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(164): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGTGGAGATCTTCAGAGAGA
 1 a0002c0002t0002g0189
a0002c0002t0002g0189
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(175): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGTGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(337): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0002g0084
a0001c0001t0002g0084
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(348): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG
CGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(423): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACG
CCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(434): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG
CGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(78): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(89): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(359): Show 
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGC
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(370): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGCGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(78): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0003g0213
a0001c0001t0003g0213
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(89): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(316): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(327): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(208): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGAGATGC
CCGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCG
GAGATCTTCAGAGAGA
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(219): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(46): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(121): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGA
 1 a0001c0001t0010g0048
a0001c0001t0010g0048
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(132): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(836): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC
AGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(847): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACACC
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGG
TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(599): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAG
ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGA
 1 a0001c0001t0088g0120
a0001c0001t0088g0120
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(610): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA
GACAGGTGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(250): Show 
GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT
CAGAGAGC
 1 a0001c0001t0005g0157
a0001c0001t0005g0157
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.970-22243_970-2224
others(261): Show 
c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACA
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACATGCGGCGGCGGCGATCTTCAGAGAGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(35): Show 
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA
 1 a0001c0001t0010g0047
a0001c0001t0010g0047
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(46): Show 
c.970-22243_970-22242insGACGCCCGAGAGGACAGGCGGCGGCG
GCGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 G
G
 GGACGCCC
others(250): Show 
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGA
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-22243_970-2224
others(261): Show 
c.970-22243_970-22242insGACGCCCGAGAGGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280735 GA
GA
 G
G
 175 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(172): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0055g0183
a0002c0004t0002g0186
 176 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22242delA
c.970-22242delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280735
chr1:2280736 A
A
 G
G
 21 a0001c0001t0001g0121
a0001c0001t0002g0084
a0001c0001t0002g0093
others(18): Show 
a0001c0001t0001g0121
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0109
a0001c0001t0002g0247
a0001c0001t0003g0044
a0001c0001t0003g0127
a0001c0001t0003g0213
a0001c0001t0003g0237
a0001c0001t0004g0218
a0001c0001t0005g0157
a0001c0001t0005g0268
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0155
a0001c0001t0088g0120
a0001c0010t0048g0052
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
 21 HG00621.hp1
HG01081.hp2
HG02015.hp1
others(18): Show 
HG00621.hp1
HG01081.hp2
HG02015.hp1
HG02015.hp2
HG02074.hp1
HG02273.hp2
HG02300.hp1
HG02572.hp2
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
NA18747.hp1
NA18954.hp1
NA18980.hp1
NA18990.hp1
NA18991.hp2
NA19082.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-22242A>G
c.970-22242A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280736
chr1:2280739 T
T
 C
C
 187 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(184): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0055g0183
a0002c0004t0002g0186
 188 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(185): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22239T>C
c.970-22239T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280739
chr1:2280743 C
C
 CGAGAAGA
others(448): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCC
GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAG
ACACGT
 1 a0001c0001t0017g0272
a0001c0001t0017g0272
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.970-22221_970-2222
others(459): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
GGACAGGCCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(446): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGT
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.970-22221_970-2222
others(457): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG
AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTG
GCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(274): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAG
AGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0002g0027
a0001c0001t0002g0322
a0001c0001t0002g0027
a0001c0001t0002g0322
 2 HG03209.hp1
NA19065.hp1
HG03209.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-22221_970-2222
others(285): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(231): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-22221_970-2222
others(242): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(274): Show 
CGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAG
AGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0214
a0001c0001t0003g0214
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.970-22226_970-2222
others(285): Show 
c.970-22226_970-22225insTGCGGCGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(534): Show 
CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGG
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.970-22226_970-2222
others(545): Show 
c.970-22226_970-22225insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACC
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAAGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAAGA
others(404): Show 
CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAAGACACGT
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.970-22226_970-2222
others(415): Show 
c.970-22226_970-22225insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 1 a0001c0003t0007g0171
a0001c0003t0007g0171
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.970-22231_970-2223
others(156): Show 
c.970-22231_970-22230insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280743 C
C
 CGAGAGGA
others(231): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-22231_970-2223
others(242): Show 
c.970-22231_970-22230insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGG
ACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC
AGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGA
AGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280743
chr1:2280748 A
A
 G
G
 29 a0001c0001t0001g0121
a0001c0001t0001g0240
a0001c0001t0002g0093
others(26): Show 
a0001c0001t0001g0121
a0001c0001t0001g0240
a0001c0001t0002g0093
a0001c0001t0002g0109
a0001c0001t0003g0046
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0213
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0291
a0001c0001t0005g0157
a0001c0001t0010g0048
a0001c0001t0012g0160
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0023g0139
a0001c0001t0050g0309
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0010t0048g0052
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
 29 HG01081.hp2
HG01891.hp1
HG01952.hp1
others(26): Show 
HG01081.hp2
HG01891.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02572.hp2
HG02886.hp1
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03927.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18747.hp1
NA18954.hp1
NA18954.hp2
NA18967.hp2
NA18983.hp1
NA19002.hp1
NA19007.hp2
NA19063.hp2
NA19068.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-22230A>G
c.970-22230A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280748
chr1:2280753 G
G
 T
T
 42 a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
others(39): Show 
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0277
a0001c0001t0003g0117
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0005g0153
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0108
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0018g0028
a0001c0001t0023g0139
a0001c0001t0026g0050
a0001c0001t0044g0292
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0005t0003g0137
a0001c0009t0004g0064
 42 HG00642.hp2
HG00733.hp2
HG00741.hp2
others(39): Show 
HG00642.hp2
HG00733.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01243.hp2
HG01261.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02071.hp1
HG02165.hp2
HG02622.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03239.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
NA18522.hp1
NA18948.hp1
NA18950.hp1
NA18962.hp2
NA18983.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19065.hp2
NA19067.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-22225G>T
c.970-22225G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280753
chr1:2280755 C
C
 CGGCGGCG
others(684): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG
AGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGG
TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-22221_970-2222
others(695): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280755
chr1:2280755 C
C
 CGGCGGCG
others(208): Show 
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGT
 1 a0002c0002t0055g0183
a0002c0002t0055g0183
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.970-22221_970-2222
others(219): Show 
c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280755
chr1:2280755 C
C
 T
T
 6 a0001c0001t0001g0125
a0001c0001t0002g0084
a0001c0001t0002g0109
others(3): Show 
a0001c0001t0001g0125
a0001c0001t0002g0084
a0001c0001t0002g0109
a0001c0001t0003g0044
a0001c0001t0003g0237
a0001c0001t0015g0136
 6 HG02015.hp1
HG02074.hp1
HG03491.hp1
others(3): Show 
HG02015.hp1
HG02074.hp1
HG03491.hp1
HG04204.hp1
NA18990.hp1
NA19000.hp2
 intron_variant MODIFIER c.970-22223C>T
c.970-22223C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280755
chr1:2280758 T
T
 C
C
 167 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(164): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0004t0001g0187
a0002c0004t0002g0186
 168 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(165): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22220T>C
c.970-22220T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280758
chr1:2280761 C
C
 T
T
 6 a0001c0001t0010g0048
a0001c0001t0015g0126
a0001c0001t0015g0236
others(3): Show 
a0001c0001t0010g0048
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0088g0120
a0002c0002t0002g0189
a0002c0004t0001g0188
 6 HG00609.hp1
HG02300.hp1
HG04199.hp2
others(3): Show 
HG00609.hp1
HG02300.hp1
HG04199.hp2
HG04204.hp2
NA19082.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-22217C>T
c.970-22217C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280761
chr1:2280764 A
A
 C
C
 165 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(162): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0004t0002g0186
 166 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(163): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22214A>C
c.970-22214A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280764
chr1:2280771 C
C
 CAG
CAG
 3 a0001c0001t0001g0004
a0001c0001t0007g0004
a0001c0001t0015g0126
a0001c0001t0001g0004
a0001c0001t0007g0004
a0001c0001t0015g0126
 3 HG00609.hp1
HG03491.hp2
HG03492.hp1
HG00609.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.970-22200_970-2219
others(6): Show 
c.970-22200_970-22199dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280771
chr1:2280778 A
A
 C
C
 52 a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
others(49): Show 
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0049
a0001c0001t0002g0124
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0003g0117
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0018g0028
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0044g0292
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0009t0004g0064
 52 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(49): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01243.hp2
HG01261.hp2
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02622.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03927.hp1
HG03942.hp1
NA18522.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18962.hp2
NA18983.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19065.hp2
NA19067.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-22200A>C
c.970-22200A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280778
chr1:2280779 G
G
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0018g0149
a0001c0001t0001g0016
a0001c0001t0018g0149
 2 NA18944.hp2
NA19080.hp2
NA18944.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-22199G>A
c.970-22199G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280779
chr1:2280779 G
G
 GA
GA
 4 a0001c0001t0002g0101
a0001c0001t0029g0056
a0001c0001t0041g0306
others(1): Show 
a0001c0001t0002g0101
a0001c0001t0029g0056
a0001c0001t0041g0306
a0001c0001t0075g0023
 4 HG00438.hp1
HG03486.hp2
HG03516.hp1
others(1): Show 
HG00438.hp1
HG03486.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-22199_970-2219
others(5): Show 
c.970-22199_970-22198insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280779
chr1:2280782 C
C
 A
A
 12 a0001c0001t0002g0203
a0001c0001t0003g0273
a0001c0001t0003g0274
others(9): Show 
a0001c0001t0002g0203
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0275
a0001c0001t0006g0284
a0001c0001t0007g0108
a0001c0001t0008g0279
a0001c0001t0017g0287
a0001c0001t0035g0261
a0001c0001t0066g0282
 12 HG01981.hp2
HG02698.hp2
HG02738.hp1
others(9): Show 
HG01981.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG03654.hp1
NA18962.hp1
NA18984.hp1
NA19012.hp2
NA19057.hp2
NA19064.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.970-22196C>A
c.970-22196C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280782
chr1:2280782 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-22156_970-2215
others(48): Show 
c.970-22156_970-22155insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280782
chr1:2280782 C
C
 T
T
 11 a0001c0001t0001g0240
a0001c0001t0002g0094
a0001c0001t0002g0101
others(8): Show 
a0001c0001t0001g0240
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0318
a0001c0001t0012g0160
a0001c0001t0029g0056
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0050g0309
a0001c0001t0075g0023
a0002c0004t0001g0187
 11 HG00438.hp1
HG01952.hp1
HG02258.hp1
others(8): Show 
HG00438.hp1
HG01952.hp1
HG02258.hp1
HG03041.hp2
HG03486.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp2
NA19002.hp2
NA19068.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-22196C>T
c.970-22196C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280782
chr1:2280783 G
G
 A
A
 3 a0001c0001t0001g0016
a0001c0001t0003g0127
a0001c0001t0018g0149
a0001c0001t0001g0016
a0001c0001t0003g0127
a0001c0001t0018g0149
 3 NA18944.hp2
NA18954.hp1
NA19080.hp2
NA18944.hp2
NA18954.hp1
NA19080.hp2
 intron_variant MODIFIER c.970-22195G>A
c.970-22195G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280783
chr1:2280785 C
C
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0018g0149
a0001c0001t0001g0016
a0001c0001t0018g0149
 2 NA18944.hp2
NA19080.hp2
NA18944.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-22193C>G
c.970-22193C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280785
chr1:2280786 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0243
a0001c0001t0003g0243
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.970-22188_970-2218
others(199): Show 
c.970-22188_970-22187insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280786
chr1:2280786 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-22188_970-2218
others(113): Show 
c.970-22188_970-22187insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280786
chr1:2280786 C
C
 T
T
 5 a0001c0001t0001g0016
a0001c0001t0002g0109
a0001c0001t0004g0219
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0002g0109
a0001c0001t0004g0219
a0001c0001t0010g0048
a0001c0001t0018g0149
 5 HG02015.hp1
HG03831.hp1
NA18944.hp2
others(2): Show 
HG02015.hp1
HG03831.hp1
NA18944.hp2
NA19080.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-22192C>T
c.970-22192C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280786
chr1:2280791 A
A
 AGACAGGC
others(79): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAG
 2 a0001c0001t0008g0196
a0001c0001t0052g0007
a0001c0001t0008g0196
a0001c0001t0052g0007
 2 NA18959.hp1
NA19064.hp1
NA18959.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-22178_970-2217
others(90): Show 
c.970-22178_970-22177insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280791
chr1:2280791 A
A
 AGACATGC
others(122): Show 
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGATGCCCGAGAG
 1 a0001c0001t0004g0248
a0001c0001t0004g0248
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.970-22183_970-2218
others(133): Show 
c.970-22183_970-22182insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280791
chr1:2280791 A
A
 G
G
 61 a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
others(58): Show 
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0049
a0001c0001t0002g0124
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0003g0117
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0010g0048
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0009t0004g0064
a0001c0010t0048g0052
a0002c0002t0002g0002
a0002c0004t0001g0187
a0002c0004t0002g0186
 62 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(59): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18948.hp1
NA18950.hp1
NA18962.hp2
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19065.hp2
NA19067.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-22187A>G
c.970-22187A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280791
chr1:2280796 G
G
 T
T
 7 a0001c0001t0001g0165
a0001c0001t0002g0301
a0001c0001t0003g0191
others(4): Show 
a0001c0001t0001g0165
a0001c0001t0002g0301
a0001c0001t0003g0191
a0001c0001t0005g0253
a0001c0001t0007g0162
a0001c0001t0008g0107
a0001c0001t0058g0297
 7 HG01081.hp1
HG02300.hp2
HG02559.hp1
others(4): Show 
HG01081.hp1
HG02300.hp2
HG02559.hp1
HG03239.hp2
HG04184.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-22182G>T
c.970-22182G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280796
chr1:2280798 C
C
 T
T
 5 a0001c0001t0001g0148
a0001c0001t0003g0214
a0001c0001t0012g0155
others(2): Show 
a0001c0001t0001g0148
a0001c0001t0003g0214
a0001c0001t0012g0155
a0001c0001t0015g0126
a0001c0001t0018g0149
 5 HG00609.hp1
HG01256.hp2
NA18991.hp2
others(2): Show 
HG00609.hp1
HG01256.hp2
NA18991.hp2
NA19070.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-22180C>T
c.970-22180C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280798
chr1:2280801 T
T
 C
C
 177 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(174): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0004t0001g0187
a0002c0004t0002g0186
a0003c0013t0032g0178
 178 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22177T>C
c.970-22177T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280801
chr1:2280804 C
C
 T
T
 5 a0001c0001t0001g0125
a0001c0001t0004g0248
a0001c0001t0012g0160
others(2): Show 
a0001c0001t0001g0125
a0001c0001t0004g0248
a0001c0001t0012g0160
a0001c0001t0015g0126
a0001c0001t0085g0263
 5 HG00280.hp2
HG00609.hp1
HG01952.hp1
others(2): Show 
HG00280.hp2
HG00609.hp1
HG01952.hp1
HG02273.hp1
NA19000.hp2
 intron_variant MODIFIER c.970-22174C>T
c.970-22174C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280804
chr1:2280807 A
A
 C
C
 177 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(174): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0004t0002g0186
 178 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00609.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22171A>C
c.970-22171A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280807
chr1:2280807 AGATCTTC
others(36): Show 
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC
 A
A
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-21942_970-2190
others(47): Show 
c.970-21942_970-21900delAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280807
chr1:2280807 AGATCTTC
others(79): Show 
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC
 A
A
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.970-21985_970-2190
others(90): Show 
c.970-21985_970-21900delAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280807
chr1:2280807 AGATCTTC
others(208): Show 
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGCGGCGGC
 A
A
 1 a0001c0001t0042g0319
a0001c0001t0042g0319
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.970-22114_970-2190
others(4): Show 
c.970-22114_970-21900del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280807
chr1:2280816 G
G
 T
T
 2 a0001c0001t0010g0085
a0002c0015t0002g0185
a0001c0001t0010g0085
a0002c0015t0002g0185
 2 HG01515.hp1
NA18980.hp1
HG01515.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-22162G>T
c.970-22162G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280816
chr1:2280816 GAGAGAGG
others(380): Show 
GAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAG
GACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGA
CAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
CGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC
GATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAT
 G
G
 1 a0001c0001t0003g0163
a0001c0001t0003g0163
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.970-22134_970-2174
others(4): Show 
c.970-22134_970-21748del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280816
chr1:2280821 A
A
 C
C
 90 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(87): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0004t0002g0186
 91 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(88): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp2
NA18995.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22157A>C
c.970-22157A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280821
chr1:2280825 C
C
 A
A
 11 a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0005g0066
others(8): Show 
a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0005g0066
a0001c0001t0010g0048
a0001c0001t0012g0194
a0001c0001t0014g0051
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0076g0113
a0001c0001t0086g0286
a0001c0011t0039g0071
 11 HG00673.hp2
HG01346.hp2
HG01884.hp2
others(8): Show 
HG00673.hp2
HG01346.hp2
HG01884.hp2
HG02280.hp1
HG02622.hp1
HG03017.hp2
HG03098.hp2
HG03453.hp1
HG03579.hp2
NA19081.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-22153C>A
c.970-22153C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280825
chr1:2280825 C
C
 CGCCCGAG
others(319): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACACCTGA
GAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCA
GAGAGAAGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-22135_970-2213
others(330): Show 
c.970-22135_970-22134insTGGCGGAGATCTTCAGAGAGAGGACA
CCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGAC
AGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280825
chr1:2280825 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATG
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-22138_970-2213
others(48): Show 
c.970-22138_970-22137insTGGTGGCGGAGATCTTCAGAGAGAGG
ATGGCCCGAGAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280825
chr1:2280825 C
C
 T
T
 15 a0001c0001t0001g0146
a0001c0001t0001g0313
a0001c0001t0001g0314
others(12): Show 
a0001c0001t0001g0146
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0247
a0001c0001t0003g0241
a0001c0001t0005g0157
a0001c0001t0008g0210
a0001c0001t0010g0092
a0001c0001t0012g0215
a0001c0001t0041g0306
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0009t0004g0064
a0002c0002t0002g0189
a0002c0004t0001g0188
 15 HG02015.hp2
HG02273.hp2
HG02300.hp1
others(12): Show 
HG02015.hp2
HG02273.hp2
HG02300.hp1
HG02572.hp1
HG02896.hp1
HG02897.hp2
HG03486.hp2
HG03942.hp1
HG04199.hp2
NA18950.hp1
NA18962.hp2
NA18983.hp1
NA18998.hp2
NA19000.hp1
NA19080.hp1
 intron_variant MODIFIER c.970-22153C>T
c.970-22153C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280825
chr1:2280826 G
G
 A
A
 13 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
others(10): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0323
a0001c0001t0002g0124
a0001c0001t0003g0117
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0008g0140
a0001c0001t0010g0164
a0001c0001t0018g0028
a0001c0005t0003g0137
 13 HG01081.hp1
HG01975.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01975.hp2
HG01978.hp2
HG02165.hp2
HG03688.hp1
NA18945.hp1
NA18948.hp1
NA18990.hp2
NA19011.hp2
NA19065.hp2
NA19067.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-22152G>A
c.970-22152G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280826
chr1:2280826 G
G
 GCCCGAGA
others(165): Show 
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG
GCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACA
 2 a0001c0001t0002g0077
a0001c0001t0070g0074
a0001c0001t0002g0077
a0001c0001t0070g0074
 2 HG02559.hp2
HG03139.hp2
HG02559.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-22145_970-2214
others(176): Show 
c.970-22145_970-22144insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCG
AGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280826
chr1:2280829 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 1 a0001c0003t0020g0014
a0001c0003t0020g0014
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.970-22145_970-2214
others(156): Show 
c.970-22145_970-22144insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280829
chr1:2280829 C
C
 T
T
 1 a0001c0001t0050g0309
a0001c0001t0050g0309
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.970-22149C>T
c.970-22149C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280829
chr1:2280834 A
A
 AGACAGGC
others(232): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC
AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-22135_970-2213
others(243): Show 
c.970-22135_970-22134insTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280834
chr1:2280834 A
A
 G
G
 116 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(113): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0229
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0188
a0002c0004t0002g0186
 117 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(114): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18956.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22144A>G
c.970-22144A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280834
chr1:2280839 G
G
 T
T
 7 a0001c0001t0002g0109
a0001c0001t0003g0158
a0001c0001t0006g0324
others(4): Show 
a0001c0001t0002g0109
a0001c0001t0003g0158
a0001c0001t0006g0324
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0064g0311
a0001c0001t0065g0312
 7 HG01169.hp2
HG01952.hp2
HG02015.hp1
others(4): Show 
HG01169.hp2
HG01952.hp2
HG02015.hp1
HG02155.hp2
HG02809.hp1
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.970-22139G>T
c.970-22139G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280839
chr1:2280841 C
C
 T
T
 6 a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0002g0027
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0002g0027
a0001c0001t0003g0243
a0001c0001t0010g0085
a0001c0001t0015g0126
 6 HG00609.hp1
NA18944.hp2
NA18954.hp2
others(3): Show 
HG00609.hp1
NA18944.hp2
NA18954.hp2
NA18980.hp1
NA19000.hp2
NA19065.hp1
 intron_variant MODIFIER c.970-22137C>T
c.970-22137C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280841
chr1:2280844 C
C
 CGGCGGAG
others(383): Show 
CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACA
CCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGT
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-22129_970-2212
others(394): Show 
c.970-22129_970-22128insAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGAC
AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCA
TAGAGAGGTGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280844
chr1:2280844 C
C
 T
T
 53 a0001c0001t0001g0016
a0001c0001t0001g0121
a0001c0001t0001g0125
others(50): Show 
a0001c0001t0001g0016
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0003g0044
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0090
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0005g0268
a0001c0001t0008g0196
a0001c0001t0009g0103
a0001c0001t0010g0085
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0272
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0041g0306
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0009t0004g0064
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 53 HG00609.hp1
HG01081.hp2
HG01256.hp2
others(50): Show 
HG00609.hp1
HG01081.hp2
HG01256.hp2
HG01515.hp1
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02145.hp1
HG02258.hp1
HG02273.hp1
HG02300.hp1
HG02559.hp2
HG02630.hp1
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18944.hp2
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18967.hp2
NA18977.hp1
NA18980.hp1
NA18983.hp1
NA18990.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19080.hp2
NA19081.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22134C>T
c.970-22134C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280844
chr1:2280847 C
C
 T
T
 9 a0001c0001t0001g0146
a0001c0001t0003g0044
a0001c0001t0004g0219
others(6): Show 
a0001c0001t0001g0146
a0001c0001t0003g0044
a0001c0001t0004g0219
a0001c0001t0009g0103
a0001c0001t0012g0194
a0001c0001t0023g0139
a0001c0001t0072g0200
a0001c0001t0088g0120
a0001c0009t0004g0064
 9 HG02145.hp1
HG03831.hp1
HG03927.hp1
others(6): Show 
HG02145.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
NA18962.hp2
NA18990.hp1
NA18998.hp2
NA19081.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22131C>T
c.970-22131C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280847
chr1:2280850 C
C
 A
A
 74 a0001c0001t0001g0016
a0001c0001t0001g0121
a0001c0001t0001g0125
others(71): Show 
a0001c0001t0001g0016
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0247
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0008
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0005g0268
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0008g0196
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0085
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0063g0259
a0001c0001t0072g0200
a0001c0001t0076g0113
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0009t0004g0064
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 74 HG00609.hp1
HG00673.hp2
HG00735.hp1
others(71): Show 
HG00609.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01243.hp2
HG01256.hp2
HG01515.hp1
HG01891.hp1
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp2
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18967.hp2
NA18977.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19030.hp1
NA19062.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19080.hp2
NA19081.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22128C>A
c.970-22128C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280850
chr1:2280850 C
C
 CGATCTTC
others(59): Show 
CGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.970-22112_970-2211
others(70): Show 
c.970-22112_970-22111insTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280850
chr1:2280850 C
C
 CGATCTTC
others(36): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGA
 1 a0001c0001t0013g0079
a0001c0001t0013g0079
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.970-22115_970-2211
others(47): Show 
c.970-22115_970-22114insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280850
chr1:2280850 C
C
 CGATCTTC
others(122): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGTGGTGGA
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.970-22115_970-2211
others(133): Show 
c.970-22115_970-22114insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280850
chr1:2280850 C
C
 CGATCTTC
others(360): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAA
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG
AAGACAGGCGGTGGCGGA
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.970-22115_970-2211
others(371): Show 
c.970-22115_970-22114insCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAG
ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAA
GACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280850
chr1:2280850 C
C
 T
T
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-22128C>T
c.970-22128C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280850
chr1:2280859 G
G
 T
T
 2 a0001c0001t0050g0309
a0002c0002t0002g0189
a0001c0001t0050g0309
a0002c0002t0002g0189
 2 HG02258.hp1
HG04199.hp2
HG02258.hp1
HG04199.hp2
 intron_variant MODIFIER c.970-22119G>T
c.970-22119G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280859
chr1:2280864 A
A
 C
C
 90 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(87): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0234
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0087g0168
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0002t0055g0183
a0002c0015t0002g0185
a0003c0013t0032g0178
 91 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp2
HG02572.hp1
HG02615.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG04184.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18995.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp1
NA19063.hp1
NA19064.hp2
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22114A>C
c.970-22114A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280864
chr1:2280864 AGGACGCC
others(271): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCT
TCAGAGAGAGGATGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0050g0309
a0001c0001t0050g0309
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.970-22111_970-2183
others(4): Show 
c.970-22111_970-21834del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280864
chr1:2280865 G
G
 GA
GA
 4 a0001c0001t0003g0213
a0001c0001t0012g0155
a0001c0001t0015g0136
others(1): Show 
a0001c0001t0003g0213
a0001c0001t0012g0155
a0001c0001t0015g0136
a0001c0001t0041g0306
 4 HG01081.hp2
HG03486.hp2
HG04204.hp1
others(1): Show 
HG01081.hp2
HG03486.hp2
HG04204.hp1
NA18991.hp2
 intron_variant MODIFIER c.970-22113_970-2211
others(5): Show 
c.970-22113_970-22112insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280865
chr1:2280868 C
C
 A
A
 12 a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0003g0291
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0278
a0001c0001t0003g0291
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0007g0004
a0001c0001t0007g0281
a0001c0001t0012g0194
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0057g0288
a0001c0006t0040g0053
 12 HG01074.hp2
HG03225.hp2
HG03491.hp2
others(9): Show 
HG01074.hp2
HG03225.hp2
HG03491.hp2
HG03492.hp1
HG06807.hp1
NA18944.hp1
NA18947.hp2
NA18980.hp2
NA19007.hp2
NA19062.hp2
NA19066.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-22110C>A
c.970-22110C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280868
chr1:2280868 C
C
 CGCCTGAG
others(123): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0010g0047
a0001c0001t0010g0047
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.970-22107_970-2210
others(134): Show 
c.970-22107_970-22106insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGA
TGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280868
chr1:2280868 C
C
 T
T
 34 a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
others(31): Show 
a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0203
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0012g0155
a0001c0001t0013g0079
a0001c0001t0015g0136
a0001c0001t0017g0068
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0041g0306
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
 34 HG00733.hp2
HG00735.hp1
HG01081.hp2
others(31): Show 
HG00733.hp2
HG00735.hp1
HG01081.hp2
HG01261.hp2
HG01361.hp1
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02165.hp1
HG02622.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03688.hp2
HG03710.hp2
HG04204.hp1
NA18522.hp1
NA18954.hp2
NA18983.hp1
NA18991.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
 intron_variant MODIFIER c.970-22110C>T
c.970-22110C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280868
chr1:2280868 CGCCCGAG
others(381): Show 
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCG
GCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA
TCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 C
C
 1 a0001c0001t0002g0318
a0001c0001t0002g0318
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.970-22091_970-2170
others(4): Show 
c.970-22091_970-21704del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280868
chr1:2280869 G
G
 A
A
 3 a0001c0001t0004g0006
a0001c0001t0004g0248
a0001c0001t0012g0160
a0001c0001t0004g0006
a0001c0001t0004g0248
a0001c0001t0012g0160
 3 HG01952.hp1
HG02273.hp1
NA18945.hp1
HG01952.hp1
HG02273.hp1
NA18945.hp1
 intron_variant MODIFIER c.970-22109G>A
c.970-22109G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280869
chr1:2280871 C
C
 CTGAGAGG
others(59): Show 
CTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 3 a0001c0001t0004g0219
a0001c0001t0044g0292
a0001c0001t0072g0200
a0001c0001t0004g0219
a0001c0001t0044g0292
a0001c0001t0072g0200
 3 HG01243.hp2
HG03831.hp1
NA18962.hp2
HG01243.hp2
HG03831.hp1
NA18962.hp2
 intron_variant MODIFIER c.970-22107_970-2210
others(70): Show 
c.970-22107_970-22106insTGAGAGGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280871
chr1:2280872 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-22092_970-2209
others(70): Show 
c.970-22092_970-22091insTGGCGGAGATCTTCAGAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 6 a0001c0001t0001g0018
a0001c0001t0005g0225
a0001c0001t0008g0042
others(3): Show 
a0001c0001t0001g0018
a0001c0001t0005g0225
a0001c0001t0008g0042
a0001c0001t0009g0100
a0001c0001t0069g0104
a0002c0002t0055g0183
 6 HG00642.hp1
HG01361.hp2
HG02615.hp2
others(3): Show 
HG00642.hp1
HG01361.hp2
HG02615.hp2
HG02809.hp2
NA18971.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-22102_970-2210
others(156): Show 
c.970-22102_970-22101insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0024g0169
a0001c0001t0024g0169
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-22102_970-2210
others(113): Show 
c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.970-22102_970-2210
others(199): Show 
c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-22102_970-2210
others(113): Show 
c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 CGAGAGGA
others(254): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGT
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-22102_970-2210
others(265): Show 
c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280872
chr1:2280872 C
C
 T
T
 10 a0001c0001t0001g0146
a0001c0001t0004g0219
a0001c0001t0008g0210
others(7): Show 
a0001c0001t0001g0146
a0001c0001t0004g0219
a0001c0001t0008g0210
a0001c0001t0009g0103
a0001c0001t0012g0215
a0001c0001t0023g0139
a0001c0001t0044g0292
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0009t0004g0064
 10 HG01243.hp2
HG02145.hp1
HG03831.hp1
others(7): Show 
HG01243.hp2
HG02145.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
NA18950.hp1
NA18962.hp2
NA18998.hp2
NA19000.hp1
NA19080.hp1
 intron_variant MODIFIER c.970-22106C>T
c.970-22106C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280872
chr1:2280877 A
A
 G
G
 114 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(111): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0093
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0279
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0015t0002g0185
a0003c0013t0032g0178
 115 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(112): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02300.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22101A>G
c.970-22101A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280877
chr1:2280882 G
G
 T
T
 14 a0001c0001t0001g0165
a0001c0001t0003g0032
a0001c0001t0003g0280
others(11): Show 
a0001c0001t0001g0165
a0001c0001t0003g0032
a0001c0001t0003g0280
a0001c0001t0004g0013
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0161
a0001c0001t0008g0210
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0012g0215
a0001c0001t0054g0159
a0001c0001t0073g0216
a0001c0001t0082g0156
 14 HG01081.hp1
HG01346.hp2
HG01928.hp2
others(11): Show 
HG01081.hp1
HG01346.hp2
HG01928.hp2
HG01993.hp2
HG02280.hp2
HG03540.hp2
NA18612.hp1
NA18950.hp1
NA18964.hp1
NA18990.hp2
NA19000.hp1
NA19011.hp2
NA19070.hp1
NA19080.hp1
 intron_variant MODIFIER c.970-22096G>T
c.970-22096G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280882
chr1:2280884 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0003g0241
a0001c0001t0009g0103
a0001c0001t0003g0241
a0001c0001t0009g0103
 2 HG02145.hp1
NA18983.hp1
HG02145.hp1
NA18983.hp1
 intron_variant MODIFIER c.970-22092_970-2209
others(27): Show 
c.970-22092_970-22091insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280884
chr1:2280884 C
C
 T
T
 2 a0001c0001t0001g0148
a0001c0001t0003g0204
a0001c0001t0001g0148
a0001c0001t0003g0204
 2 HG01346.hp1
NA19070.hp2
HG01346.hp1
NA19070.hp2
 intron_variant MODIFIER c.970-22094C>T
c.970-22094C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280884
chr1:2280887 C
C
 T
T
 81 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0004g0006
a0001c0001t0004g0090
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0225
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0196
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0155
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0009t0004g0064
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 81 HG00609.hp1
HG00642.hp1
HG00733.hp2
others(78): Show 
HG00609.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01081.hp2
HG01109.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02074.hp1
HG02145.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18983.hp1
NA18990.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19080.hp2
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-22091C>T
c.970-22091C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280887
chr1:2280890 C
C
 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-22086_970-2208
others(47): Show 
c.970-22086_970-22085insAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280890
chr1:2280890 C
C
 T
T
 23 a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
others(20): Show 
a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0203
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0004g0218
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0017g0068
a0001c0001t0047g0293
a0001c0001t0061g0138
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
 23 HG00733.hp2
HG00735.hp1
HG01109.hp1
others(20): Show 
HG00733.hp2
HG00735.hp1
HG01109.hp1
HG01261.hp2
HG01361.hp1
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02165.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03688.hp2
HG03710.hp2
HG04184.hp1
NA19012.hp1
NA19062.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-22088C>T
c.970-22088C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280890
chr1:2280891 G
G
 A
A
 1 a0001c0001t0002g0129
a0001c0001t0002g0129
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.970-22087G>A
c.970-22087G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280891
chr1:2280893 C
C
 A
A
 130 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
others(127): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0196
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0012g0155
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 131 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(128): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp2
HG01081.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22085C>A
c.970-22085C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280893
chr1:2280893 C
C
 CGATCTTC
others(188): Show 
CGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAG
AGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGA
 1 a0001c0001t0003g0234
a0001c0001t0003g0234
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.970-22068_970-2206
others(199): Show 
c.970-22068_970-22067insTGCCCGAGAGGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCG
GAGATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280893
chr1:2280893 C
C
 CGATCTTC
others(428): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGA
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.970-22072_970-2207
others(439): Show 
c.970-22072_970-22071insCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATA
GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280893
chr1:2280902 G
G
 GAGAGAGG
others(188): Show 
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAG
GTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAT
 1 a0001c0001t0003g0046
a0001c0001t0003g0046
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-22064_970-2206
others(199): Show 
c.970-22064_970-22063insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG
GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280902
chr1:2280902 G
G
 GAGAGCGG
others(208): Show 
GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCATAGAGAG
GATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCC
GAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA
CAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG
TGGCGGAGATCTTCAT
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-22072_970-2207
others(219): Show 
c.970-22072_970-22071insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCATAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280902
chr1:2280902 G
G
 T
T
 7 a0001c0001t0001g0146
a0001c0001t0002g0084
a0001c0001t0010g0085
others(4): Show 
a0001c0001t0001g0146
a0001c0001t0002g0084
a0001c0001t0010g0085
a0001c0001t0023g0139
a0001c0009t0004g0064
a0002c0004t0001g0187
a0002c0004t0001g0188
 7 HG02074.hp1
HG02300.hp1
HG03927.hp1
others(4): Show 
HG02074.hp1
HG02300.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
NA18980.hp1
NA18998.hp2
 intron_variant MODIFIER c.970-22076G>T
c.970-22076G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280902
chr1:2280907 A
A
 AGGACGCC
others(231): Show 
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGC
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-22064_970-2206
others(242): Show 
c.970-22064_970-22063insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG
GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGCGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280907
chr1:2280907 A
A
 C
C
 48 a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0002g0072
others(45): Show 
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0002g0081
a0001c0001t0002g0093
a0001c0001t0002g0301
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0009
a0001c0001t0004g0025
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0161
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0051
a0001c0001t0017g0287
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0073g0216
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0011t0039g0071
a0003c0013t0032g0178
 48 HG01099.hp1
HG01099.hp2
HG01169.hp2
others(45): Show 
HG01099.hp1
HG01099.hp2
HG01169.hp2
HG01884.hp2
HG01952.hp2
HG01993.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02622.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03942.hp2
HG04184.hp2
NA18612.hp1
NA18950.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18984.hp1
NA19000.hp1
NA19011.hp2
NA19012.hp2
NA19063.hp1
NA19064.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22071A>C
c.970-22071A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280907
chr1:2280907 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 2 a0001c0001t0001g0146
a0001c0009t0004g0064
a0001c0001t0001g0146
a0001c0009t0004g0064
 2 HG03942.hp1
NA18998.hp2
HG03942.hp1
NA18998.hp2
 intron_variant MODIFIER c.970-22068_970-2200
others(67): Show 
c.970-22068_970-22006delACGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280907
chr1:2280907 AGGACGCC
others(228): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCG
GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0023g0139
a0001c0001t0023g0139
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.970-22068_970-2183
others(4): Show 
c.970-22068_970-21834del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280907
chr1:2280908 G
G
 A
A
 2 a0001c0001t0003g0241
a0001c0001t0009g0103
a0001c0001t0003g0241
a0001c0001t0009g0103
 2 HG02145.hp1
NA18983.hp1
HG02145.hp1
NA18983.hp1
 intron_variant MODIFIER c.970-22070G>A
c.970-22070G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280908
chr1:2280908 G
G
 GA
GA
 6 a0001c0001t0001g0016
a0001c0001t0003g0044
a0001c0001t0003g0214
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0003g0044
a0001c0001t0003g0214
a0001c0001t0003g0237
a0001c0001t0015g0136
a0001c0001t0081g0083
 6 HG01256.hp2
HG03491.hp1
HG04204.hp1
others(3): Show 
HG01256.hp2
HG03491.hp1
HG04204.hp1
NA18944.hp2
NA18982.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-22070_970-2206
others(5): Show 
c.970-22070_970-22069insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280908
chr1:2280908 G
G
 GGACACCT
others(59): Show 
GGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0001t0029g0056
a0001c0001t0029g0056
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-22067_970-2206
others(70): Show 
c.970-22067_970-22066insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280908
chr1:2280911 C
C
 A
A
 11 a0001c0001t0001g0205
a0001c0001t0001g0283
a0001c0001t0003g0270
others(8): Show 
a0001c0001t0001g0205
a0001c0001t0001g0283
a0001c0001t0003g0270
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0036g0262
a0001c0001t0049g0087
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0007t0078g0269
 11 HG00438.hp1
HG00609.hp2
HG00673.hp2
others(8): Show 
HG00438.hp1
HG00609.hp2
HG00673.hp2
HG01123.hp2
HG04199.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18961.hp1
NA18980.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-22067C>A
c.970-22067C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280911
chr1:2280911 C
C
 CGCCCGAG
others(79): Show 
CGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGA
GAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAAGAT
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-22059_970-2205
others(90): Show 
c.970-22059_970-22058insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGAAGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAAG
ATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280911
chr1:2280911 C
C
 T
T
 60 a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
others(57): Show 
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0237
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0230
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0065
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0013g0069
a0001c0001t0014g0229
a0001c0001t0015g0136
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0085g0263
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
 61 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(58): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp1
HG02486.hp2
HG03098.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22067C>T
c.970-22067C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280911
chr1:2280912 G
G
 A
A
 6 a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0004g0248
others(3): Show 
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0004g0248
a0001c0001t0007g0162
a0001c0001t0009g0103
a0001c0001t0054g0159
 6 HG01928.hp2
HG02145.hp1
HG02273.hp1
others(3): Show 
HG01928.hp2
HG02145.hp1
HG02273.hp1
HG02300.hp2
HG03239.hp1
NA18983.hp1
 intron_variant MODIFIER c.970-22066G>A
c.970-22066G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280912
chr1:2280914 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 3 a0001c0001t0003g0045
a0001c0001t0003g0130
a0001c0001t0018g0147
a0001c0001t0003g0045
a0001c0001t0003g0130
a0001c0001t0018g0147
 3 NA18967.hp2
NA19002.hp1
NA19062.hp1
NA18967.hp2
NA19002.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-22064_970-2206
others(70): Show 
c.970-22064_970-22063insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280914
chr1:2280914 C
C
 CTGAGAGG
others(59): Show 
CTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-22064_970-2206
others(70): Show 
c.970-22064_970-22063insTGAGAGGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280914
chr1:2280914 C
C
 CTGAGAGG
others(469): Show 
CTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAGGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGT
GGCGGAGATCTTCAGAGAGAAGACACG
 1 a0001c0001t0005g0253
a0001c0001t0005g0253
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.970-22064_970-2206
others(480): Show 
c.970-22064_970-22063insTGAGAGGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280914
chr1:2280914 C
C
 G
G
 2 a0001c0001t0003g0241
a0001c0001t0009g0103
a0001c0001t0003g0241
a0001c0001t0009g0103
 2 HG02145.hp1
NA18983.hp1
HG02145.hp1
NA18983.hp1
 intron_variant MODIFIER c.970-22064C>G
c.970-22064C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280914
chr1:2280915 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 6 a0001c0001t0001g0026
a0001c0001t0002g0256
a0001c0001t0005g0207
others(3): Show 
a0001c0001t0001g0026
a0001c0001t0002g0256
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0019g0233
a0001c0001t0080g0043
 6 HG00738.hp1
HG00741.hp1
HG01123.hp1
others(3): Show 
HG00738.hp1
HG00741.hp1
HG01123.hp1
HG01169.hp1
HG02004.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-22059_970-2205
others(113): Show 
c.970-22059_970-22058insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280915
chr1:2280915 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 1 a0001c0001t0002g0036
a0001c0001t0002g0036
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.970-22059_970-2205
others(156): Show 
c.970-22059_970-22058insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280915
chr1:2280915 C
C
 CGAGAGGA
others(168): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0004g0230
a0001c0001t0014g0229
a0001c0001t0004g0230
a0001c0001t0014g0229
 2 HG00099.hp1
HG02109.hp1
HG00099.hp1
HG02109.hp1
 intron_variant MODIFIER c.970-22059_970-2205
others(179): Show 
c.970-22059_970-22058insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280915
chr1:2280915 C
C
 T
T
 30 a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
others(27): Show 
a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0203
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0003g0130
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0004g0219
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0253
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0305
a0001c0001t0009g0103
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
 30 HG00733.hp2
HG00735.hp1
HG01109.hp1
others(27): Show 
HG00733.hp2
HG00735.hp1
HG01109.hp1
HG01257.hp2
HG01261.hp2
HG01361.hp1
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02145.hp1
HG02165.hp1
HG02622.hp2
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
NA18522.hp1
NA18967.hp2
NA18983.hp1
NA19002.hp1
NA19012.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-22063C>T
c.970-22063C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280915
chr1:2280920 A
A
 G
G
 109 a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
others(106): Show 
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0038
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0127
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0065
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0069
a0001c0001t0014g0051
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0023g0091
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0073g0216
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
 110 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(107): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18998.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22058A>G
c.970-22058A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280920
chr1:2280925 G
G
 GGCGGCGG
others(80): Show 
GGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCG
GCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAT
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-21984_970-2198
others(91): Show 
c.970-21984_970-21983insAGATGCCCGAGAAGACATGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280925
chr1:2280925 G
G
 T
T
 12 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0313
others(9): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0124
a0001c0001t0003g0117
a0001c0001t0005g0157
a0001c0001t0008g0140
a0001c0001t0012g0160
a0001c0001t0018g0028
a0001c0005t0003g0137
 12 HG01952.hp1
HG01975.hp2
HG01978.hp2
others(9): Show 
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02165.hp2
HG02273.hp2
HG02896.hp1
HG02897.hp2
HG03688.hp1
NA18948.hp1
NA19065.hp2
NA19067.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-22053G>T
c.970-22053G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280925
chr1:2280927 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-22049_970-2204
others(70): Show 
c.970-22049_970-22048insTGGCGGAGATCTTCAGAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280927
chr1:2280927 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 5 a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0007g0086
others(2): Show 
a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0007g0086
a0001c0001t0061g0138
a0001c0003t0020g0015
 5 HG00735.hp1
HG01891.hp1
HG03130.hp1
others(2): Show 
HG00735.hp1
HG01891.hp1
HG03130.hp1
HG03688.hp2
NA19012.hp1
 intron_variant MODIFIER c.970-22049_970-2204
others(27): Show 
c.970-22049_970-22048insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280927
chr1:2280927 C
C
 T
T
 12 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0165
others(9): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0165
a0001c0001t0002g0084
a0001c0001t0003g0046
a0001c0001t0006g0211
a0001c0001t0008g0042
a0001c0001t0015g0126
a0001c0001t0024g0005
a0001c0001t0044g0292
a0002c0004t0001g0187
a0002c0004t0001g0188
 12 HG00609.hp1
HG01081.hp1
HG01243.hp2
others(9): Show 
HG00609.hp1
HG01081.hp1
HG01243.hp2
HG02074.hp1
HG02300.hp1
HG02698.hp1
HG02735.hp1
HG03516.hp2
HG04115.hp2
NA18971.hp1
NA19063.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-22051C>T
c.970-22051C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280927
chr1:2280930 C
C
 T
T
 126 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
others(123): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0013g0069
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 127 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(124): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22048C>T
c.970-22048C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280930
chr1:2280933 C
C
 T
T
 40 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(37): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0125
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0102
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0005g0206
a0001c0001t0005g0227
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0013g0069
a0001c0001t0015g0126
a0001c0001t0019g0223
a0001c0001t0023g0091
a0001c0001t0071g0024
a0001c0001t0085g0263
a0002c0002t0002g0002
a0002c0015t0002g0185
 41 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(38): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG01975.hp1
HG02055.hp2
HG03654.hp1
HG03669.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp1
NA19011.hp1
NA19057.hp1
NA19065.hp1
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22045C>T
c.970-22045C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280933
chr1:2280936 C
C
 A
A
 152 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
others(149): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0013g0069
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 153 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22042C>A
c.970-22042C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280936
chr1:2280936 C
C
 CGATCTTC
others(16): Show 
CGATCTTCAGAGAGAGGTGGCGGA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.970-22026_970-2202
others(27): Show 
c.970-22026_970-22025insTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280936
chr1:2280936 C
C
 CGATCTTC
others(317): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGTGGA
 1 a0001c0001t0033g0073
a0001c0001t0033g0073
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.970-22029_970-2202
others(328): Show 
c.970-22029_970-22028insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAAGACACGTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280936
chr1:2280936 C
C
 CGATCTTC
others(165): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGTGGTGGCGGA
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-22029_970-2202
others(176): Show 
c.970-22029_970-22028insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280936
chr1:2280936 C
C
 CGATCTTC
others(231): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAG
AGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-22029_970-2202
others(242): Show 
c.970-22029_970-22028insCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGAT
CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280936
chr1:2280937 G
G
 A
A
 1 a0001c0001t0012g0194
a0001c0001t0012g0194
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-22041G>A
c.970-22041G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280937
chr1:2280943 C
C
 CAG
CAG
 3 a0001c0001t0001g0125
a0001c0001t0004g0013
a0001c0001t0015g0126
a0001c0001t0001g0125
a0001c0001t0004g0013
a0001c0001t0015g0126
 3 HG00609.hp1
NA18990.hp2
NA19000.hp2
HG00609.hp1
NA18990.hp2
NA19000.hp2
 intron_variant MODIFIER c.970-22028_970-2202
others(6): Show 
c.970-22028_970-22027dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280943
chr1:2280945 G
G
 T
T
 14 a0001c0001t0001g0119
a0001c0001t0002g0049
a0001c0001t0002g0203
others(11): Show 
a0001c0001t0001g0119
a0001c0001t0002g0049
a0001c0001t0002g0203
a0001c0001t0003g0209
a0001c0001t0004g0134
a0001c0001t0005g0153
a0001c0001t0007g0305
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0002c0002t0002g0189
 14 HG00733.hp2
HG01261.hp2
HG01981.hp2
others(11): Show 
HG00733.hp2
HG01261.hp2
HG01981.hp2
HG02165.hp1
HG02622.hp2
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03710.hp2
HG04199.hp2
NA18522.hp1
 intron_variant MODIFIER c.970-22033G>T
c.970-22033G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280945
chr1:2280950 A
A
 C
C
 47 a0001c0001t0001g0004
a0001c0001t0001g0110
a0001c0001t0001g0141
others(44): Show 
a0001c0001t0001g0004
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0105
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0114
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0006g0142
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0281
a0001c0001t0008g0140
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0018g0028
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0038g0212
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0068g0145
a0001c0001t0086g0286
a0001c0005t0003g0137
a0001c0011t0039g0071
 47 HG00673.hp1
HG00735.hp2
HG01074.hp2
others(44): Show 
HG00673.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp2
HG01261.hp1
HG01884.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02055.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp2
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18971.hp2
NA18980.hp1
NA19007.hp2
NA19011.hp2
NA19062.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-22028A>C
c.970-22028A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280950
chr1:2280950 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 9 a0001c0001t0001g0119
a0001c0001t0002g0049
a0001c0001t0002g0203
others(6): Show 
a0001c0001t0001g0119
a0001c0001t0002g0049
a0001c0001t0002g0203
a0001c0001t0003g0209
a0001c0001t0005g0153
a0001c0001t0007g0305
a0001c0001t0056g0315
a0001c0003t0001g0175
a0001c0003t0009g0173
 9 HG00733.hp2
HG01261.hp2
HG01981.hp2
others(6): Show 
HG00733.hp2
HG01261.hp2
HG01981.hp2
HG02165.hp1
HG02717.hp2
HG02886.hp1
HG03486.hp1
HG03710.hp2
NA18522.hp1
 intron_variant MODIFIER c.970-22025_970-2200
others(24): Show 
c.970-22025_970-22006delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280950
chr1:2280950 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 3 a0001c0001t0062g0257
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0001t0062g0257
a0001c0003t0001g0170
a0001c0003t0001g0172
 3 HG02622.hp2
HG03041.hp1
HG03471.hp1
HG02622.hp2
HG03041.hp1
HG03471.hp1
 intron_variant MODIFIER c.970-22025_970-2196
others(67): Show 
c.970-22025_970-21963delACGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280950
chr1:2280951 G
G
 A
A
 6 a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0006g0226
others(3): Show 
a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0061g0138
a0001c0003t0020g0015
 6 HG00735.hp1
HG01891.hp1
HG02738.hp2
others(3): Show 
HG00735.hp1
HG01891.hp1
HG02738.hp2
HG03130.hp1
HG03688.hp2
NA19012.hp1
 intron_variant MODIFIER c.970-22027G>A
c.970-22027G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280951
chr1:2280951 G
G
 GA
GA
 5 a0001c0001t0001g0016
a0001c0001t0001g0135
a0001c0001t0001g0148
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0005g0268
a0001c0001t0041g0306
 5 HG02698.hp1
HG03486.hp2
HG03704.hp2
others(2): Show 
HG02698.hp1
HG03486.hp2
HG03704.hp2
NA18944.hp2
NA19070.hp2
 intron_variant MODIFIER c.970-22027_970-2202
others(5): Show 
c.970-22027_970-22026insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280951
chr1:2280954 C
C
 A
A
 14 a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0277
others(11): Show 
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0003g0062
a0001c0001t0003g0289
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0006g0080
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0053g0082
a0001c0001t0076g0113
a0001c0001t0079g0128
 14 HG00423.hp2
HG00544.hp1
HG00673.hp2
others(11): Show 
HG00423.hp2
HG00544.hp1
HG00673.hp2
HG02004.hp1
HG02071.hp1
HG03209.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
NA18983.hp2
NA18995.hp1
NA19074.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-22024C>A
c.970-22024C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280954
chr1:2280954 C
C
 T
T
 33 a0001c0001t0001g0016
a0001c0001t0001g0135
a0001c0001t0001g0148
others(30): Show 
a0001c0001t0001g0016
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0002g0081
a0001c0001t0002g0301
a0001c0001t0003g0031
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0237
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0108
a0001c0001t0008g0279
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0083g0231
a0001c0001t0087g0168
a0003c0013t0032g0178
 33 HG01099.hp2
HG02027.hp1
HG02698.hp1
others(30): Show 
HG01099.hp2
HG02027.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03486.hp2
HG03491.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp2
NA18944.hp2
NA18959.hp2
NA18962.hp1
NA18967.hp2
NA18984.hp1
NA18991.hp2
NA19002.hp1
NA19012.hp2
NA19063.hp1
NA19064.hp2
NA19067.hp2
NA19070.hp2
NA19081.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22024C>T
c.970-22024C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280954
chr1:2280955 G
G
 A
A
 13 a0001c0001t0002g0077
a0001c0001t0002g0326
a0001c0001t0003g0032
others(10): Show 
a0001c0001t0002g0077
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0197
a0001c0001t0005g0161
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0047g0293
a0001c0001t0061g0138
a0001c0001t0082g0156
a0001c0003t0020g0015
 13 HG00735.hp1
HG01891.hp1
HG01952.hp2
others(10): Show 
HG00735.hp1
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02559.hp2
HG02738.hp2
HG03130.hp1
HG03579.hp1
HG03688.hp2
NA18612.hp1
NA18954.hp1
NA19012.hp1
NA19070.hp1
 intron_variant MODIFIER c.970-22023G>A
c.970-22023G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280955
chr1:2280957 C
C
 CTGAGAAG
others(36): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
 2 a0001c0001t0001g0033
a0001c0001t0004g0017
a0001c0001t0001g0033
a0001c0001t0004g0017
 2 NA18956.hp2
NA18961.hp2
NA18956.hp2
NA18961.hp2
 intron_variant MODIFIER c.970-22021_970-2202
others(47): Show 
c.970-22021_970-22020insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280957
chr1:2280957 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 6 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(3): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0003g0019
a0001c0001t0005g0206
 6 HG01975.hp1
NA18747.hp2
NA18946.hp2
others(3): Show 
HG01975.hp1
NA18747.hp2
NA18946.hp2
NA18984.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-22021_970-2202
others(70): Show 
c.970-22021_970-22020insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280957
chr1:2280957 C
C
 CTGAGAAG
others(125): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
 1 a0001c0001t0002g0222
a0001c0001t0002g0222
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.970-22021_970-2202
others(136): Show 
c.970-22021_970-22020insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAA
GACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280957
chr1:2280957 C
C
 G
G
 6 a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0006g0226
others(3): Show 
a0001c0001t0002g0326
a0001c0001t0003g0197
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0061g0138
a0001c0003t0020g0015
 6 HG00735.hp1
HG01891.hp1
HG02738.hp2
others(3): Show 
HG00735.hp1
HG01891.hp1
HG02738.hp2
HG03130.hp1
HG03688.hp2
NA19012.hp1
 intron_variant MODIFIER c.970-22021C>G
c.970-22021C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280957
chr1:2280958 C
C
 CGAGAGGA
others(231): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0290
a0001c0001t0003g0290
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.970-22016_970-2201
others(242): Show 
c.970-22016_970-22015insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
AGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280958
chr1:2280958 C
C
 CGAGAGGA
others(168): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0005g0232
a0001c0001t0083g0231
a0001c0001t0005g0232
a0001c0001t0083g0231
 2 HG01099.hp2
homoSapiens_chm13v2.hp1
HG01099.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22016_970-2201
others(179): Show 
c.970-22016_970-22015insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280958
chr1:2280958 C
C
 T
T
 42 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(39): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0102
a0001c0001t0002g0222
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0005g0206
a0001c0001t0005g0227
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0010g0047
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0013g0069
a0001c0001t0019g0223
a0001c0001t0023g0091
a0001c0001t0061g0138
a0001c0001t0071g0024
a0001c0001t0085g0263
a0001c0003t0020g0015
a0001c0012t0011g0266
a0002c0015t0002g0185
 42 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02055.hp2
HG02735.hp2
HG02738.hp2
HG02976.hp2
HG03130.hp1
HG03669.hp1
HG03688.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19057.hp1
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22020C>T
c.970-22020C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280958
chr1:2280959 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-22019G>A
c.970-22019G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280959
chr1:2280963 A
A
 G
G
 83 a0001c0001t0001g0004
a0001c0001t0001g0110
a0001c0001t0001g0141
others(80): Show 
a0001c0001t0001g0004
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0124
a0001c0001t0002g0301
a0001c0001t0003g0031
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0224
a0001c0001t0003g0270
a0001c0001t0003g0274
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0025
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0157
a0001c0001t0005g0228
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0023g0091
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0004t0001g0187
a0002c0004t0002g0186
a0003c0013t0032g0178
 83 HG00609.hp2
HG00642.hp2
HG00673.hp1
others(80): Show 
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01261.hp1
HG01884.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp1
NA18967.hp2
NA18980.hp1
NA18984.hp1
NA19002.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-22015A>G
c.970-22015A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280963
chr1:2280968 G
G
 T
T
 9 a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0251
others(6): Show 
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0251
a0001c0001t0006g0065
a0001c0001t0006g0300
a0001c0001t0007g0162
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0049g0087
 9 HG00621.hp2
HG01074.hp1
HG01081.hp2
others(6): Show 
HG00621.hp2
HG01074.hp1
HG01081.hp2
HG01346.hp1
HG02074.hp2
HG02300.hp2
HG02486.hp1
HG04199.hp1
NA19074.hp2
 intron_variant MODIFIER c.970-22010G>T
c.970-22010G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280968
chr1:2280970 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.970-22006_970-2200
others(27): Show 
c.970-22006_970-22005insTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280970
chr1:2280970 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-22006_970-2200
others(114): Show 
c.970-22006_970-22005insTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280970
chr1:2280970 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 9 a0001c0001t0002g0102
a0001c0001t0003g0022
a0001c0001t0003g0191
others(6): Show 
a0001c0001t0002g0102
a0001c0001t0003g0022
a0001c0001t0003g0191
a0001c0001t0004g0134
a0001c0001t0005g0227
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0019g0223
 9 HG01884.hp1
HG01928.hp1
HG02735.hp2
others(6): Show 
HG01884.hp1
HG01928.hp1
HG02735.hp2
NA18977.hp2
NA18979.hp1
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-22006_970-2200
others(27): Show 
c.970-22006_970-22005insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280970
chr1:2280970 C
C
 T
T
 13 a0001c0001t0001g0026
a0001c0001t0001g0125
a0001c0001t0001g0255
others(10): Show 
a0001c0001t0001g0026
a0001c0001t0001g0125
a0001c0001t0001g0255
a0001c0001t0002g0129
a0001c0001t0002g0256
a0001c0001t0003g0045
a0001c0001t0003g0241
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0253
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0080g0043
 13 HG00738.hp1
HG00741.hp1
HG01123.hp1
others(10): Show 
HG00738.hp1
HG00741.hp1
HG01123.hp1
HG01169.hp1
HG01993.hp1
HG02004.hp2
HG03239.hp2
NA18971.hp2
NA18983.hp1
NA19000.hp2
NA19062.hp1
NA19080.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-22008C>T
c.970-22008C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280970
chr1:2280973 C
C
 T
T
 142 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
others(139): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0290
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 143 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(140): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-22005C>T
c.970-22005C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280973
chr1:2280976 C
C
 T
T
 23 a0001c0001t0001g0135
a0001c0001t0002g0075
a0001c0001t0002g0076
others(20): Show 
a0001c0001t0001g0135
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0003g0031
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0228
a0001c0001t0007g0108
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0035g0261
a0001c0001t0045g0294
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0087g0168
a0001c0001t0088g0120
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 23 HG00099.hp2
HG00323.hp2
HG00609.hp1
others(20): Show 
HG00099.hp2
HG00323.hp2
HG00609.hp1
HG00735.hp2
HG01515.hp1
HG02280.hp2
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02976.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04204.hp1
NA18959.hp2
NA19063.hp1
NA19081.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-22002C>T
c.970-22002C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280976
chr1:2280979 C
C
 A
A
 168 a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
others(165): Show 
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 169 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(166): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21999C>A
c.970-21999C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280979
chr1:2280979 C
C
 CGATCTTC
others(317): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGA
 1 a0001c0001t0003g0291
a0001c0001t0003g0291
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.970-21986_970-2198
others(328): Show 
c.970-21986_970-21985insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280979
chr1:2280988 G
G
 T
T
 13 a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0038
others(10): Show 
a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0010g0047
a0001c0001t0010g0208
a0001c0001t0023g0091
a0001c0001t0071g0024
a0002c0004t0001g0187
a0002c0004t0001g0188
 13 HG00621.hp1
HG00642.hp2
HG02055.hp2
others(10): Show 
HG00621.hp1
HG00642.hp2
HG02055.hp2
HG02300.hp1
HG03669.hp1
HG04115.hp2
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19079.hp1
 intron_variant MODIFIER c.970-21990G>T
c.970-21990G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280988
chr1:2280993 A
A
 C
C
 38 a0001c0001t0001g0004
a0001c0001t0001g0165
a0001c0001t0001g0205
others(35): Show 
a0001c0001t0001g0004
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0323
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0004g0009
a0001c0001t0004g0260
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0300
a0001c0001t0007g0004
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0160
a0001c0001t0013g0177
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0068g0145
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 38 HG00609.hp2
HG00621.hp2
HG01074.hp1
others(35): Show 
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp1
HG01891.hp2
HG01952.hp1
HG02074.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp2
HG03041.hp2
HG03139.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG04199.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19074.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21985A>C
c.970-21985A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280993
chr1:2280993 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 10 a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0038
others(7): Show 
a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0010g0208
a0001c0001t0023g0091
a0001c0001t0071g0024
 10 HG00642.hp2
HG02055.hp2
HG03669.hp1
others(7): Show 
HG00642.hp2
HG02055.hp2
HG03669.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19079.hp1
 intron_variant MODIFIER c.970-21982_970-2196
others(24): Show 
c.970-21982_970-21963delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280993
chr1:2280993 AGGACGCC
others(79): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 A
A
 1 a0001c0001t0045g0294
a0001c0001t0045g0294
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.970-21956_970-2187
others(90): Show 
c.970-21956_970-21871delCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAG
GCGGCGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280993
chr1:2280994 G
G
 A
A
 20 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
others(17): Show 
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0203
a0001c0001t0003g0022
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0005g0153
a0001c0001t0005g0227
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0019g0223
a0001c0001t0056g0315
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0009t0004g0064
 20 HG00733.hp2
HG01261.hp2
HG01884.hp1
others(17): Show 
HG00733.hp2
HG01261.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp2
HG02165.hp1
HG02717.hp2
HG02886.hp1
HG03486.hp1
HG03710.hp2
HG03942.hp1
NA18522.hp1
NA18944.hp2
NA18977.hp2
NA18979.hp1
NA18998.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-21984G>A
c.970-21984G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280994
chr1:2280994 G
G
 GA
GA
 9 a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0002g0027
others(6): Show 
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0002g0027
a0001c0001t0002g0322
a0001c0001t0003g0234
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0017g0272
a0001c0001t0026g0050
 9 HG00741.hp2
HG03209.hp1
NA18954.hp2
others(6): Show 
HG00741.hp2
HG03209.hp1
NA18954.hp2
NA18977.hp1
NA19030.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp2
 intron_variant MODIFIER c.970-21984_970-2198
others(5): Show 
c.970-21984_970-21983insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280994
chr1:2280994 G
G
 GGAAGCCC
others(36): Show 
GGAAGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAA
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-21982_970-2198
others(47): Show 
c.970-21982_970-21981insAGCCCGAGAGGACAGGCGGCGGCGGC
GATCTTCAGAGAGAAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280994
chr1:2280994 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-21983_970-2198
others(27): Show 
c.970-21983_970-21982insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2280994
chr1:2280997 C
C
 A
A
 12 a0001c0001t0001g0001
a0001c0001t0002g0154
a0001c0001t0003g0204
others(9): Show 
a0001c0001t0001g0001
a0001c0001t0002g0154
a0001c0001t0003g0204
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0005g0066
a0001c0001t0015g0201
a0001c0001t0036g0262
a0001c0001t0051g0276
a0001c0001t0067g0097
a0001c0001t0076g0113
a0001c0001t0079g0128
 13 HG00544.hp1
HG00673.hp1
HG00673.hp2
others(10): Show 
HG00544.hp1
HG00673.hp1
HG00673.hp2
HG01123.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG02886.hp2
HG03927.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-21981C>A
c.970-21981C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280997
chr1:2280997 C
C
 T
T
 37 a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0285
others(34): Show 
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0003g0046
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0008g0279
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0014g0051
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0052g0007
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0011t0039g0071
a0002c0002t0002g0002
 38 HG00741.hp2
HG01169.hp2
HG01256.hp1
others(35): Show 
HG00741.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02074.hp1
HG02155.hp2
HG02280.hp1
HG02622.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp2
HG04184.hp2
NA18954.hp2
NA18962.hp1
NA18977.hp1
NA18980.hp1
NA18983.hp1
NA18984.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp2
 intron_variant MODIFIER c.970-21981C>T
c.970-21981C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280997
chr1:2280998 G
G
 A
A
 31 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
others(28): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0003g0022
a0001c0001t0003g0044
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0004g0114
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0227
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0041g0306
a0001c0001t0056g0315
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0009t0004g0064
 31 HG00733.hp2
HG01261.hp2
HG01884.hp1
others(28): Show 
HG00733.hp2
HG01261.hp2
HG01884.hp1
HG01928.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02717.hp2
HG02886.hp1
HG03486.hp1
HG03486.hp2
HG03688.hp1
HG03710.hp2
HG03942.hp1
NA18522.hp1
NA18944.hp2
NA18948.hp1
NA18977.hp2
NA18979.hp1
NA18990.hp1
NA18998.hp2
NA19067.hp1
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-21980G>A
c.970-21980G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2280998
chr1:2281000 C
C
 G
G
 21 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
others(18): Show 
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0203
a0001c0001t0003g0022
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0005g0153
a0001c0001t0005g0227
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0019g0223
a0001c0001t0041g0306
a0001c0001t0056g0315
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0009t0004g0064
 21 HG00733.hp2
HG01261.hp2
HG01884.hp1
others(18): Show 
HG00733.hp2
HG01261.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp2
HG02165.hp1
HG02717.hp2
HG02886.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp2
HG03942.hp1
NA18522.hp1
NA18944.hp2
NA18977.hp2
NA18979.hp1
NA18998.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-21978C>G
c.970-21978C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281000
chr1:2281001 C
C
 CGAGAGGA
others(274): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0001g0004
a0001c0001t0007g0004
a0001c0001t0001g0004
a0001c0001t0007g0004
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.970-21973_970-2197
others(285): Show 
c.970-21973_970-21972insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
AGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
TGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281001
chr1:2281001 C
C
 CGAGAGGA
others(231): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-21973_970-2197
others(242): Show 
c.970-21973_970-21972insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
AGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281001
chr1:2281001 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-21973_970-2197
others(113): Show 
c.970-21973_970-21972insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281001
chr1:2281001 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0066g0282
a0001c0001t0066g0282
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.970-21973_970-2197
others(199): Show 
c.970-21973_970-21972insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281001
chr1:2281001 C
C
 T
T
 37 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
others(34): Show 
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0001g0271
a0001c0001t0002g0049
a0001c0001t0002g0081
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0044
a0001c0001t0003g0063
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0012g0194
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0041g0306
a0001c0001t0056g0315
a0001c0001t0065g0312
a0001c0001t0087g0168
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0009t0004g0064
a0003c0013t0032g0178
 37 HG00733.hp2
HG01261.hp2
HG01361.hp2
others(34): Show 
HG00733.hp2
HG01261.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp2
HG02165.hp1
HG02280.hp2
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG02976.hp1
HG03130.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18944.hp2
NA18959.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18990.hp1
NA18998.hp2
NA19002.hp1
NA19063.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21977C>T
c.970-21977C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281001
chr1:2281006 A
A
 G
G
 68 a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0278
others(65): Show 
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0004g0009
a0001c0001t0004g0219
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0017g0287
a0001c0001t0025g0238
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0068g0145
a0001c0001t0086g0286
a0001c0007t0078g0269
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0002g0186
 69 HG00609.hp2
HG00621.hp2
HG00735.hp2
others(66): Show 
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01952.hp1
HG02004.hp1
HG02015.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02145.hp2
HG02155.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18962.hp1
NA18980.hp1
NA18983.hp2
NA18984.hp1
NA18995.hp1
NA19011.hp2
NA19012.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19081.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21972A>G
c.970-21972A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281006
chr1:2281011 G
G
 T
T
 34 a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0304
others(31): Show 
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0304
a0001c0001t0002g0242
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0310
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0307
a0001c0001t0012g0215
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0008t0021g0252
 34 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(31): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00733.hp1
HG01070.hp1
HG01257.hp1
HG01258.hp2
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01993.hp2
HG02071.hp2
HG02258.hp2
HG02273.hp1
HG02615.hp1
HG02717.hp1
HG03098.hp1
HG03239.hp1
HG03490.hp1
HG03831.hp2
HG03834.hp2
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA19000.hp1
NA19070.hp1
NA19080.hp1
NA19088.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-21967G>T
c.970-21967G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281011
chr1:2281013 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0003g0031
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0003g0031
a0001c0001t0004g0025
a0001c0001t0004g0219
 3 HG03831.hp1
NA18959.hp2
NA19063.hp1
HG03831.hp1
NA18959.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21963_970-2196
others(27): Show 
c.970-21963_970-21962insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281013
chr1:2281013 C
C
 CGGTGGCG
others(82): Show 
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0005g0228
a0001c0001t0005g0228
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21963_970-2196
others(93): Show 
c.970-21963_970-21962insTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281013
chr1:2281013 C
C
 T
T
 16 a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
others(13): Show 
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0004g0017
a0001c0001t0005g0206
a0001c0001t0006g0226
a0001c0001t0010g0047
a0001c0001t0012g0155
a0001c0001t0015g0126
a0001c0003t0020g0014
a0002c0004t0001g0187
 16 HG00609.hp1
HG00621.hp1
HG01975.hp1
others(13): Show 
HG00609.hp1
HG00621.hp1
HG01975.hp1
HG02738.hp2
HG03453.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA18991.hp2
NA19007.hp1
NA19063.hp2
NA19082.hp2
 intron_variant MODIFIER c.970-21965C>T
c.970-21965C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281013
chr1:2281016 C
C
 T
T
 154 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(151): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 155 HG00099.hp1
HG00280.hp1
HG00609.hp1
others(152): Show 
HG00099.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21962C>T
c.970-21962C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281016
chr1:2281016 CGGCGGCG
others(597): Show 
CGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC
GATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAG
AGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGT
 C
C
 1 a0001c0001t0006g0080
a0001c0001t0006g0080
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.970-21956_970-2135
others(4): Show 
c.970-21956_970-21353del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281016
chr1:2281019 C
C
 CGGAGATC
others(79): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0088g0120
a0001c0001t0088g0120
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-21957_970-2195
others(90): Show 
c.970-21957_970-21956insAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281019
chr1:2281019 C
C
 CGGAGATC
others(231): Show 
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA
GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGT
 2 a0001c0001t0002g0072
a0001c0001t0026g0295
a0001c0001t0002g0072
a0001c0001t0026g0295
 2 HG02622.hp1
HG03579.hp2
HG02622.hp1
HG03579.hp2
 intron_variant MODIFIER c.970-21957_970-2195
others(242): Show 
c.970-21957_970-21956insAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC
AGGCGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281019
chr1:2281019 C
C
 T
T
 18 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0205
others(15): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0205
a0001c0001t0002g0036
a0001c0001t0002g0084
a0001c0001t0002g0301
a0001c0001t0003g0044
a0001c0001t0003g0274
a0001c0001t0004g0013
a0001c0001t0004g0275
a0001c0001t0006g0284
a0001c0001t0008g0042
a0001c0001t0008g0279
a0001c0001t0010g0164
a0001c0001t0015g0201
a0001c0001t0017g0287
a0001c0001t0038g0212
a0001c0006t0040g0053
 18 HG00673.hp1
HG02074.hp1
HG02155.hp1
others(15): Show 
HG00673.hp1
HG02074.hp1
HG02155.hp1
HG02155.hp2
HG02698.hp1
HG02698.hp2
HG03225.hp2
HG04184.hp2
NA18962.hp1
NA18971.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA19011.hp2
NA19012.hp2
NA19064.hp2
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21959C>T
c.970-21959C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281019
chr1:2281022 C
C
 A
A
 173 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(170): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 174 HG00099.hp1
HG00280.hp1
HG00609.hp1
others(171): Show 
HG00099.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21956C>A
c.970-21956C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281022
chr1:2281022 C
C
 CGATCTTC
others(756): Show 
CGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGA
CAGGTGGTGGCGGA
 1 a0001c0001t0008g0140
a0001c0001t0008g0140
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.970-21930_970-2192
others(767): Show 
c.970-21930_970-21929insGGACAGGCGGTGGCGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
TGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGT
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAG
GTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281022
chr1:2281031 G
G
 GAGAGAGG
others(36): Show 
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAT
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-21935_970-2193
others(47): Show 
c.970-21935_970-21934insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281031
chr1:2281031 G
G
 T
T
 8 a0001c0001t0001g0271
a0001c0001t0003g0130
a0001c0001t0004g0006
others(5): Show 
a0001c0001t0001g0271
a0001c0001t0003g0130
a0001c0001t0004g0006
a0001c0001t0004g0325
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0018g0147
a0001c0001t0065g0312
 8 HG02280.hp2
HG02630.hp2
HG03130.hp2
others(5): Show 
HG02280.hp2
HG02630.hp2
HG03130.hp2
HG03942.hp2
NA18945.hp1
NA18967.hp2
NA19002.hp1
NA19081.hp2
 intron_variant MODIFIER c.970-21947G>T
c.970-21947G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281031
chr1:2281036 A
A
 C
C
 78 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0132
others(75): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0062
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0009
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0092
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0073g0216
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0188
a0002c0004t0002g0186
 79 HG00099.hp2
HG00323.hp1
HG00323.hp2
others(76): Show 
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01243.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03225.hp1
HG03239.hp1
HG03490.hp1
HG03540.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18956.hp1
NA18980.hp2
NA18983.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21942A>C
c.970-21942A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281036
chr1:2281036 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0004g0325
a0001c0001t0065g0312
a0001c0001t0004g0325
a0001c0001t0065g0312
 2 HG02280.hp2
HG03942.hp2
HG02280.hp2
HG03942.hp2
 intron_variant MODIFIER c.970-21939_970-2192
others(24): Show 
c.970-21939_970-21920delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281036
chr1:2281036 AGGACGCC
others(36): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 A
A
 4 a0001c0001t0006g0324
a0001c0001t0007g0281
a0001c0001t0031g0321
others(1): Show 
a0001c0001t0006g0324
a0001c0001t0007g0281
a0001c0001t0031g0321
a0001c0001t0057g0288
 4 HG01074.hp2
HG01169.hp2
NA18947.hp2
others(1): Show 
HG01074.hp2
HG01169.hp2
NA18947.hp2
NA19066.hp2
 intron_variant MODIFIER c.970-21913_970-2187
others(47): Show 
c.970-21913_970-21871delCGATCTTCAGAGAGCGGACGCCCGAG
AAGACAGGCGGCGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281036
chr1:2281036 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAAGACAGGC
 A
A
 3 a0001c0001t0001g0271
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0001g0271
a0001c0001t0011g0265
a0001c0001t0012g0194
 3 HG02630.hp2
HG03130.hp2
NA19081.hp2
HG02630.hp2
HG03130.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-21939_970-2187
others(67): Show 
c.970-21939_970-21877delACGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281036
chr1:2281037 G
G
 A
A
 18 a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
others(15): Show 
a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0005g0228
a0001c0001t0010g0208
a0001c0001t0023g0091
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0003t0001g0170
a0001c0003t0001g0172
 18 HG00642.hp2
HG02055.hp2
HG02622.hp2
others(15): Show 
HG00642.hp2
HG02055.hp2
HG02622.hp2
HG03041.hp1
HG03471.hp1
HG03669.hp1
HG03831.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19063.hp1
NA19070.hp2
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21941G>A
c.970-21941G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281037
chr1:2281037 G
G
 GA
GA
 4 a0001c0001t0004g0230
a0001c0001t0005g0225
a0001c0001t0014g0229
others(1): Show 
a0001c0001t0004g0230
a0001c0001t0005g0225
a0001c0001t0014g0229
a0001c0001t0029g0056
 4 HG00099.hp1
HG01361.hp2
HG02109.hp1
others(1): Show 
HG00099.hp1
HG01361.hp2
HG02109.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-21941_970-2194
others(5): Show 
c.970-21941_970-21940insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281037
chr1:2281040 C
C
 A
A
 15 a0001c0001t0002g0094
a0001c0001t0002g0154
a0001c0001t0005g0066
others(12): Show 
a0001c0001t0002g0094
a0001c0001t0002g0154
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0014g0070
a0001c0001t0015g0201
a0001c0001t0017g0068
a0001c0001t0036g0262
a0001c0001t0063g0259
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0087g0168
 15 HG00438.hp1
HG00544.hp1
HG00673.hp1
others(12): Show 
HG00438.hp1
HG00544.hp1
HG00673.hp1
HG00673.hp2
HG01123.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG02109.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-21938C>A
c.970-21938C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281040
chr1:2281040 C
C
 T
T
 18 a0001c0001t0001g0165
a0001c0001t0001g0278
a0001c0001t0001g0283
others(15): Show 
a0001c0001t0001g0165
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0002g0129
a0001c0001t0004g0230
a0001c0001t0005g0225
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0014g0229
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0035g0261
a0001c0001t0064g0311
a0001c0001t0086g0286
a0002c0002t0002g0189
a0002c0004t0001g0187
 18 HG00099.hp1
HG01081.hp1
HG01109.hp2
others(15): Show 
HG00099.hp1
HG01081.hp1
HG01109.hp2
HG01361.hp2
HG01952.hp1
HG02109.hp1
HG02818.hp1
HG03017.hp2
HG03453.hp1
HG03516.hp1
HG03704.hp1
HG04115.hp2
HG04199.hp2
NA18961.hp1
NA18971.hp2
NA18991.hp2
NA19030.hp2
NA19062.hp2
 intron_variant MODIFIER c.970-21938C>T
c.970-21938C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281040
chr1:2281041 G
G
 A
A
 22 a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
others(19): Show 
a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0323
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0023g0091
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0001t0083g0231
a0001c0003t0001g0170
a0001c0003t0001g0172
 22 HG00642.hp2
HG01099.hp2
HG02055.hp1
others(19): Show 
HG00642.hp2
HG01099.hp2
HG02055.hp1
HG02055.hp2
HG02622.hp2
HG03041.hp1
HG03471.hp1
HG03669.hp1
HG03831.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19063.hp1
NA19065.hp2
NA19070.hp2
NA19079.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21937G>A
c.970-21937G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281041
chr1:2281043 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 2 a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0003g0274
a0001c0001t0004g0275
 2 NA18962.hp1
NA18984.hp1
NA18962.hp1
NA18984.hp1
 intron_variant MODIFIER c.970-21935_970-2193
others(70): Show 
c.970-21935_970-21934insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281043
chr1:2281043 C
C
 CTGAGAAG
others(102): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACG
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.970-21935_970-2193
others(113): Show 
c.970-21935_970-21934insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281043
chr1:2281043 C
C
 G
G
 18 a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
others(15): Show 
a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0005g0228
a0001c0001t0010g0208
a0001c0001t0023g0091
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0003t0001g0170
a0001c0003t0001g0172
 18 HG00642.hp2
HG02055.hp2
HG02622.hp2
others(15): Show 
HG00642.hp2
HG02055.hp2
HG02622.hp2
HG03041.hp1
HG03471.hp1
HG03669.hp1
HG03831.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19063.hp1
NA19070.hp2
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21935C>G
c.970-21935C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281043
chr1:2281044 C
C
 CGAGAGGA
others(404): Show 
CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGT
 1 a0001c0001t0003g0213
a0001c0001t0003g0213
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.970-21930_970-2192
others(415): Show 
c.970-21930_970-21929insGGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA
CAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG
CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGC
GATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281044
chr1:2281044 C
C
 CGAGAGGA
others(59): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.970-21930_970-2192
others(70): Show 
c.970-21930_970-21929insGGACAGGCGGTGGTGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281044
chr1:2281044 C
C
 CGAGAGGA
others(168): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGA
GAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0018g0028
a0001c0005t0003g0137
a0001c0001t0018g0028
a0001c0005t0003g0137
 2 HG03688.hp1
NA19067.hp1
HG03688.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-21930_970-2192
others(179): Show 
c.970-21930_970-21929insGGACAGGCGGTGGTGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
TGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281044
chr1:2281044 C
C
 T
T
 35 a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0205
others(32): Show 
a0001c0001t0001g0035
a0001c0001t0001g0148
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0038
a0001c0001t0002g0301
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0274
a0001c0001t0004g0006
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0005g0161
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0008g0279
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0017g0287
a0001c0001t0023g0091
a0001c0001t0038g0212
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0001t0083g0231
a0001c0003t0001g0170
a0001c0003t0001g0172
 35 HG00642.hp2
HG01099.hp2
HG01993.hp2
others(32): Show 
HG00642.hp2
HG01099.hp2
HG01993.hp2
HG02055.hp2
HG02155.hp2
HG02622.hp2
HG02698.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03471.hp1
HG03540.hp2
HG03669.hp1
HG03831.hp1
HG04184.hp2
NA18612.hp2
NA18942.hp1
NA18945.hp1
NA18948.hp2
NA18959.hp2
NA18962.hp1
NA18984.hp1
NA18998.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19070.hp2
NA19079.hp1
NA20752.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21934C>T
c.970-21934C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281044
chr1:2281049 A
A
 G
G
 107 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0132
others(104): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0129
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0009
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0007g0086
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0011g0264
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0046g0057
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0188
a0002c0004t0002g0186
 108 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(105): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01243.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02109.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18967.hp1
NA18971.hp2
NA18980.hp2
NA18983.hp2
NA18995.hp1
NA19000.hp1
NA19011.hp2
NA19043.hp1
NA19062.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21929A>G
c.970-21929A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281049
chr1:2281054 G
G
 GGCGGTGG
others(188): Show 
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGA
CAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAT
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-21920_970-2191
others(199): Show 
c.970-21920_970-21919insTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACATGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281054
chr1:2281054 G
G
 T
T
 12 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0254
others(9): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0254
a0001c0001t0003g0117
a0001c0001t0004g0114
a0001c0001t0005g0157
a0001c0001t0007g0108
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0044g0292
 12 HG00544.hp2
HG01243.hp2
HG01975.hp2
others(9): Show 
HG00544.hp2
HG01243.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02273.hp2
HG03654.hp1
NA18945.hp2
NA18959.hp1
NA18991.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-21924G>T
c.970-21924G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281054
chr1:2281056 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0002g0301
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0002g0301
a0001c0001t0010g0164
a0001c0001t0017g0287
 3 HG04184.hp2
NA19011.hp2
NA19012.hp2
HG04184.hp2
NA19011.hp2
NA19012.hp2
 intron_variant MODIFIER c.970-21920_970-2191
others(27): Show 
c.970-21920_970-21919insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281056
chr1:2281056 C
C
 CGGTGGTG
others(59): Show 
CGGTGGTGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGC
GGAGATCTTCATAGAGA
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-21920_970-2191
others(70): Show 
c.970-21920_970-21919insTGGTGGAGATCTTCAGAGAGAGGACA
CCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281056
chr1:2281056 C
C
 T
T
 12 a0001c0001t0001g0148
a0001c0001t0003g0022
a0001c0001t0003g0130
others(9): Show 
a0001c0001t0001g0148
a0001c0001t0003g0022
a0001c0001t0003g0130
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0005g0227
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0010g0085
a0001c0001t0014g0051
a0001c0001t0018g0147
 12 HG01261.hp2
HG01884.hp2
HG01928.hp1
others(9): Show 
HG01261.hp2
HG01884.hp2
HG01928.hp1
NA18522.hp1
NA18967.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA19002.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21922C>T
c.970-21922C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281056
chr1:2281059 C
C
 T
T
 160 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(157): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0103
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0015t0002g0185
 161 HG00099.hp1
HG00280.hp1
HG00609.hp1
others(158): Show 
HG00099.hp1
HG00280.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19067.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21919C>T
c.970-21919C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281059
chr1:2281059 CGGCGGCG
others(165): Show 
CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA
GGACGCCCGAGAAGACAGGCGGT
 C
C
 1 a0001c0001t0004g0115
a0001c0001t0004g0115
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-21913_970-2174
others(4): Show 
c.970-21913_970-21742del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281059
chr1:2281059 CGGCGGCG
others(726): Show 
CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG
AGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGG
TGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
 C
C
 1 a0001c0001t0004g0118
a0001c0001t0004g0118
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.970-21913_970-2118
others(4): Show 
c.970-21913_970-21181del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281059
chr1:2281062 C
C
 T
T
 18 a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0125
others(15): Show 
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0002g0124
a0001c0001t0003g0045
a0001c0001t0007g0086
a0001c0001t0012g0160
a0001c0001t0015g0136
a0001c0001t0035g0261
a0001c0001t0064g0311
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0086g0286
a0002c0002t0002g0189
a0002c0015t0002g0185
 18 HG00735.hp1
HG01081.hp1
HG01109.hp2
others(15): Show 
HG00735.hp1
HG01081.hp1
HG01109.hp2
HG01515.hp1
HG01952.hp1
HG02004.hp2
HG02165.hp2
HG02818.hp1
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA19000.hp2
NA19062.hp1
NA19090.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21916C>T
c.970-21916C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281062
chr1:2281065 C
C
 A
A
 181 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(178): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 183 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21913C>A
c.970-21913C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281065
chr1:2281065 C
C
 CGATCTTC
others(274): Show 
CGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAGGACAGGCGGTGGTGGA
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.970-21900_970-2189
others(285): Show 
c.970-21900_970-21899insAGGAAGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA
GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCA
GAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281065
chr1:2281065 CGATCTTC
others(36): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA
 C
C
 1 a0001c0001t0003g0224
a0001c0001t0003g0224
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.970-21899_970-2185
others(47): Show 
c.970-21899_970-21857delCGGACGCCCGAGAAGACAGGCGGCGG
CGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281065
chr1:2281065 CGATCTTC
others(296): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGA
 C
C
 1 a0001c0001t0075g0023
a0001c0001t0075g0023
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.970-21899_970-2159
others(4): Show 
c.970-21899_970-21597del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281065
chr1:2281065 CGATCTTC
others(511): Show 
CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGA
GAGGACAGGCGGTGGCGGA
 C
C
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.970-21899_970-2138
others(4): Show 
c.970-21899_970-21382del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281065
chr1:2281072 C
C
 CAGAGAGA
others(39): Show 
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
 1 a0001c0001t0018g0149
a0001c0001t0018g0149
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-21900_970-2189
others(50): Show 
c.970-21900_970-21899insAGAGATGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281072
chr1:2281074 G
G
 T
T
 6 a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
others(3): Show 
a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0038g0212
a0001c0001t0081g0083
a0002c0002t0002g0002
 7 HG01256.hp1
HG01258.hp1
HG02055.hp2
others(4): Show 
HG01256.hp1
HG01258.hp1
HG02055.hp2
HG02155.hp2
HG02698.hp2
HG03540.hp2
NA18982.hp1
 intron_variant MODIFIER c.970-21904G>T
c.970-21904G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281074
chr1:2281077 AGCGGACG
others(13): Show 
AGCGGACGCCCGAGAAGACAG
 A
A
 4 a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
others(1): Show 
a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0038g0212
 4 HG02055.hp2
HG02155.hp2
HG02698.hp2
others(1): Show 
HG02055.hp2
HG02155.hp2
HG02698.hp2
HG03540.hp2
 intron_variant MODIFIER c.970-21896_970-2187
others(24): Show 
c.970-21896_970-21877delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281077
chr1:2281079 C
C
 A
A
 195 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(192): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0264
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
a0003c0013t0032g0178
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21899C>A
c.970-21899C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281079
chr1:2281080 G
G
 A
A
 13 a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0094
others(10): Show 
a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0094
a0001c0001t0002g0301
a0001c0001t0003g0274
a0001c0001t0004g0218
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0008g0279
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0024g0005
a0001c0001t0065g0312
 13 HG01993.hp1
HG02280.hp2
HG03041.hp2
others(10): Show 
HG01993.hp1
HG02280.hp2
HG03041.hp2
HG03516.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
NA18962.hp1
NA18984.hp1
NA19011.hp2
NA19012.hp2
NA19064.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-21898G>A
c.970-21898G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281080
chr1:2281080 G
G
 GA
GA
 26 a0001c0001t0001g0018
a0001c0001t0001g0119
a0001c0001t0001g0135
others(23): Show 
a0001c0001t0001g0018
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0044
a0001c0001t0003g0214
a0001c0001t0003g0237
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0253
a0001c0001t0008g0042
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0017g0272
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0041g0306
a0001c0001t0056g0315
a0002c0002t0055g0183
 26 HG00280.hp1
HG00642.hp1
HG00738.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp2
HG01952.hp1
HG02155.hp1
HG02698.hp1
HG02717.hp2
HG03239.hp2
HG03486.hp2
HG03491.hp1
HG03710.hp2
NA18954.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18990.hp1
NA18991.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19068.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-21898_970-2189
others(5): Show 
c.970-21898_970-21897insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281080
chr1:2281083 C
C
 A
A
 3 a0001c0001t0012g0067
a0001c0001t0049g0087
a0001c0001t0085g0263
a0001c0001t0012g0067
a0001c0001t0049g0087
a0001c0001t0085g0263
 3 HG00280.hp2
HG00738.hp2
HG04199.hp1
HG00280.hp2
HG00738.hp2
HG04199.hp1
 intron_variant MODIFIER c.970-21895C>A
c.970-21895C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281083
chr1:2281083 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0007g0133
a0001c0001t0007g0133
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.970-21877_970-2187
others(48): Show 
c.970-21877_970-21876insTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281083
chr1:2281083 C
C
 CGCCCGAG
others(36): Show 
CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.970-21887_970-2188
others(47): Show 
c.970-21887_970-21886insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281083
chr1:2281083 C
C
 CGCCCGAG
others(79): Show 
CGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACACCCGA
GAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-21887_970-2188
others(90): Show 
c.970-21887_970-21886insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACACCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281083
chr1:2281083 C
C
 T
T
 51 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0119
others(48): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0240
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0036
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0003g0214
a0001c0001t0003g0237
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0004g0218
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0006g0324
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0009g0296
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0017g0272
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0041g0306
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0079g0128
a0001c0007t0078g0269
a0002c0002t0055g0183
a0002c0004t0001g0188
 52 HG00099.hp2
HG00280.hp1
HG00323.hp2
others(49): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG02074.hp1
HG02155.hp1
HG02300.hp1
HG02300.hp2
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp2
HG04184.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18954.hp2
NA18961.hp1
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18990.hp1
NA18991.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-21895C>T
c.970-21895C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281083
chr1:2281083 CGCCCGAG
others(166): Show 
CGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGAT
 C
C
 1 a0001c0001t0087g0168
a0001c0001t0087g0168
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.970-21876_970-2170
others(4): Show 
c.970-21876_970-21704del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281083
chr1:2281084 G
G
 A
A
 12 a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0027
others(9): Show 
a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0301
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0065g0312
 12 HG01993.hp1
HG02280.hp2
HG02818.hp2
others(9): Show 
HG01993.hp1
HG02280.hp2
HG02818.hp2
HG03942.hp2
HG04184.hp2
NA18962.hp1
NA18984.hp1
NA19011.hp2
NA19012.hp2
NA19064.hp2
NA19065.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21894G>A
c.970-21894G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281084
chr1:2281086 C
C
 G
G
 10 a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0301
others(7): Show 
a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0002g0301
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0008g0279
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0065g0312
 10 HG01993.hp1
HG02280.hp2
HG03942.hp2
others(7): Show 
HG01993.hp1
HG02280.hp2
HG03942.hp2
HG04184.hp2
NA18962.hp1
NA18984.hp1
NA19011.hp2
NA19012.hp2
NA19064.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-21892C>G
c.970-21892C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281086
chr1:2281087 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-21877_970-2187
others(47): Show 
c.970-21877_970-21876insTGGCGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 CGAGAGGA
others(317): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0004g0248
a0001c0001t0004g0248
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.970-21887_970-2188
others(328): Show 
c.970-21887_970-21886insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0004g0114
a0001c0001t0004g0114
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-21887_970-2188
others(199): Show 
c.970-21887_970-21886insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-21887_970-2188
others(113): Show 
c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-21887_970-2188
others(113): Show 
c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0012g0160
a0001c0001t0012g0160
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.970-21887_970-2188
others(113): Show 
c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281087
chr1:2281087 C
C
 T
T
 21 a0001c0001t0001g0030
a0001c0001t0001g0165
a0001c0001t0001g0205
others(18): Show 
a0001c0001t0001g0030
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0002g0027
a0001c0001t0002g0105
a0001c0001t0002g0124
a0001c0001t0002g0301
a0001c0001t0003g0274
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0008g0279
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0086g0286
a0002c0002t0002g0189
 21 HG01081.hp1
HG01109.hp2
HG01993.hp1
others(18): Show 
HG01081.hp1
HG01109.hp2
HG01993.hp1
HG02165.hp2
HG02280.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp2
NA18962.hp1
NA18984.hp1
NA19011.hp2
NA19012.hp2
NA19064.hp2
NA19065.hp1
NA19082.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21891C>T
c.970-21891C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281087
chr1:2281092 A
A
 G
G
 128 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0110
others(125): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0009
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0067g0097
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0188
a0002c0004t0002g0186
 130 HG00099.hp2
HG00323.hp1
HG00323.hp2
others(127): Show 
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18991.hp1
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21886A>G
c.970-21886A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281092
chr1:2281097 G
G
 T
T
 1 a0001c0001t0006g0065
a0001c0001t0006g0065
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.970-21881G>T
c.970-21881G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281097
chr1:2281099 C
C
 A
A
 4 a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
others(1): Show 
a0001c0001t0001g0235
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0038g0212
 4 HG02055.hp2
HG02155.hp2
HG02698.hp2
others(1): Show 
HG02055.hp2
HG02155.hp2
HG02698.hp2
HG03540.hp2
 intron_variant MODIFIER c.970-21879C>A
c.970-21879C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281099
chr1:2281099 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0035g0261
a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0035g0261
 3 HG01081.hp1
HG02165.hp2
HG02818.hp1
HG01081.hp1
HG02165.hp2
HG02818.hp1
 intron_variant MODIFIER c.970-21877_970-2187
others(27): Show 
c.970-21877_970-21876insTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281099
chr1:2281099 C
C
 T
T
 18 a0001c0001t0001g0125
a0001c0001t0002g0038
a0001c0001t0003g0031
others(15): Show 
a0001c0001t0001g0125
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0213
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0081g0083
a0001c0005t0003g0137
a0002c0002t0002g0002
a0002c0002t0002g0189
 19 HG00642.hp2
HG01081.hp2
HG01256.hp1
others(16): Show 
HG00642.hp2
HG01081.hp2
HG01256.hp1
HG01258.hp1
HG01952.hp1
HG03688.hp1
HG04199.hp2
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18982.hp1
NA19000.hp2
NA19011.hp1
NA19063.hp1
NA19067.hp1
NA19079.hp1
NA19080.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21879C>T
c.970-21879C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281099
chr1:2281102 C
C
 CGGCGGCG
others(317): Show 
CGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGC
GATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTC
AGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA
GGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
TGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGT
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-21871_970-2187
others(328): Show 
c.970-21871_970-21870insCGATCTTCAGAGAGAGGACGCCCGAG
AAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281102
chr1:2281102 C
C
 T
T
 182 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(179): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0093
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 183 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21876C>T
c.970-21876C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281102
chr1:2281102 CGGCGGAG
others(339): Show 
CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT
 C
C
 3 a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
 4 HG02723.hp2
HG02976.hp2
NA19043.hp2
others(1): Show 
HG02723.hp2
HG02976.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-21852_970-2150
others(4): Show 
c.970-21852_970-21507del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281102
chr1:2281102 CGGCGGAG
others(468): Show 
CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAG
AGAGGACGCCCGAGAGGACAGGCGGT
 C
C
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-21852_970-2137
others(4): Show 
c.970-21852_970-21378del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281102
chr1:2281105 C
C
 CGGAGATC
others(103): Show 
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAT
AGAGAGGTGGT
 1 a0001c0001t0003g0234
a0001c0001t0003g0234
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.970-21855_970-2185
others(114): Show 
c.970-21855_970-21854insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGTGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281105
chr1:2281105 C
C
 T
T
 22 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(19): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0005g0089
a0001c0001t0007g0162
a0001c0001t0009g0296
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0136
a0001c0001t0024g0005
a0001c0001t0088g0120
a0001c0006t0040g0053
a0001c0011t0039g0071
a0002c0004t0001g0188
 22 HG01099.hp1
HG01261.hp1
HG01361.hp1
others(19): Show 
HG01099.hp1
HG01261.hp1
HG01361.hp1
HG01884.hp2
HG02165.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG03225.hp2
HG03516.hp2
HG04204.hp1
NA18946.hp2
NA18956.hp2
NA18961.hp1
NA18961.hp2
NA18984.hp2
NA19007.hp1
NA19062.hp2
NA19065.hp1
NA19082.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-21873C>T
c.970-21873C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281105
chr1:2281108 A
A
 C
C
 69 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0166
others(66): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0002g0081
a0001c0001t0002g0094
a0001c0001t0002g0242
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0220
a0001c0001t0004g0260
a0001c0001t0005g0066
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0310
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0307
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0012g0067
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0201
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0010t0048g0052
a0003c0013t0032g0178
 69 HG00280.hp2
HG00323.hp1
HG00423.hp1
others(66): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp2
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02258.hp2
HG02273.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02717.hp1
HG02886.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
HG04199.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18959.hp1
NA18964.hp2
NA18967.hp1
NA18991.hp1
NA19000.hp1
NA19070.hp1
NA19080.hp1
NA19081.hp1
NA19088.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21870A>C
c.970-21870A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281108
chr1:2281109 G
G
 A
A
 1 a0001c0001t0015g0201
a0001c0001t0015g0201
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.970-21869G>A
c.970-21869G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281109
chr1:2281117 G
G
 T
T
 7 a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0002g0247
others(4): Show 
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0002g0247
a0001c0001t0010g0048
a0001c0001t0011g0264
a0001c0001t0064g0311
a0001c0001t0086g0286
 7 HG01109.hp2
HG02015.hp2
HG03017.hp2
others(4): Show 
HG01109.hp2
HG02015.hp2
HG03017.hp2
HG03139.hp1
HG03453.hp1
HG03704.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21861G>T
c.970-21861G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281117
chr1:2281122 A
A
 C
C
 19 a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0141
others(16): Show 
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0141
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0123
a0001c0001t0002g0326
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0005g0157
a0001c0001t0006g0065
a0001c0001t0007g0108
a0001c0001t0008g0239
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0049g0087
a0001c0001t0063g0259
 19 HG00423.hp2
HG00544.hp2
HG01261.hp1
others(16): Show 
HG00423.hp2
HG00544.hp2
HG01261.hp1
HG01975.hp2
HG01978.hp2
HG02074.hp2
HG02109.hp2
HG02273.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03654.hp1
HG03669.hp1
HG04115.hp1
HG04199.hp1
NA18747.hp1
NA18964.hp2
NA18967.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-21856A>C
c.970-21856A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281122
chr1:2281122 AGGATGCC
others(13): Show 
AGGATGCCCGAGAAGACAGGC
 A
A
 4 a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0064g0311
others(1): Show 
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0064g0311
a0001c0001t0086g0286
 4 HG01109.hp2
HG03017.hp2
HG03453.hp1
others(1): Show 
HG01109.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
 intron_variant MODIFIER c.970-21853_970-2183
others(24): Show 
c.970-21853_970-21834delATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281122
chr1:2281122 AGGATGCC
others(1177): Show 
AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA
GAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
 A
A
 1 a0001c0001t0011g0264
a0001c0001t0011g0264
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.970-21853_970-2067
others(4): Show 
c.970-21853_970-20670del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281122
chr1:2281123 G
G
 A
A
 16 a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
others(13): Show 
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0002g0124
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0005g0225
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0017g0287
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0065g0312
 16 HG01081.hp1
HG01361.hp2
HG02055.hp2
others(13): Show 
HG01081.hp1
HG01361.hp2
HG02055.hp2
HG02155.hp2
HG02165.hp2
HG02572.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03130.hp2
HG03540.hp2
HG03942.hp2
NA18962.hp1
NA18984.hp1
NA19012.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-21855G>A
c.970-21855G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281123
chr1:2281123 G
G
 GA
GA
 24 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0119
others(21): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0002g0093
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0209
a0001c0001t0003g0241
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0005g0153
a0001c0001t0005g0232
a0001c0001t0006g0211
a0001c0001t0007g0305
a0001c0001t0009g0100
a0001c0001t0026g0050
a0001c0001t0033g0073
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0003t0020g0014
 24 HG00733.hp2
HG01099.hp2
HG01261.hp2
others(21): Show 
HG00733.hp2
HG01099.hp2
HG01261.hp2
HG02004.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03098.hp2
HG03453.hp2
HG03471.hp2
HG03710.hp2
NA18522.hp1
NA18962.hp2
NA18983.hp1
NA18995.hp2
NA19007.hp2
NA19030.hp2
NA19062.hp1
NA19067.hp2
NA19090.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21855_970-2185
others(5): Show 
c.970-21855_970-21854insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281123
chr1:2281123 G
G
 GGATGCCC
others(601): Show 
GGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
TGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAAAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGA
CAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGAAAGGCGGTGGCGGAGATCTTC
AGAGAGAGA
 1 a0001c0001t0003g0217
a0001c0001t0003g0217
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.970-21844_970-2184
others(612): Show 
c.970-21844_970-21843insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGAAAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAAAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281123
chr1:2281123 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-21854_970-2185
others(27): Show 
c.970-21854_970-21853insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281123
chr1:2281123 GGATGCCC
others(123): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 G
G
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21800_970-2167
others(4): Show 
c.970-21800_970-21671del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281123
chr1:2281126 T
T
 A
A
 4 a0001c0001t0003g0224
a0001c0001t0007g0061
a0001c0001t0047g0293
others(1): Show 
a0001c0001t0003g0224
a0001c0001t0007g0061
a0001c0001t0047g0293
a0003c0013t0032g0178
 4 HG01109.hp1
HG01978.hp1
HG03579.hp1
others(1): Show 
HG01109.hp1
HG01978.hp1
HG03579.hp1
HG03654.hp2
 intron_variant MODIFIER c.970-21852T>A
c.970-21852T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281126
chr1:2281126 T
T
 C
C
 177 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(174): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0046
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0234
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0081g0083
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 178 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21852T>C
c.970-21852T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281126
chr1:2281126 T
T
 TGCCCGAG
others(638): Show 
TGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC
AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGT
GGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAG
ATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGAC
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-21844_970-2184
others(649): Show 
c.970-21844_970-21843insGGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAG
ATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT
GAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA
CAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281126
chr1:2281127 G
G
 A
A
 19 a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
others(16): Show 
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0002g0124
a0001c0001t0003g0274
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0014g0229
a0001c0001t0017g0287
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0065g0312
 19 HG00099.hp1
HG01081.hp1
HG01361.hp2
others(16): Show 
HG00099.hp1
HG01081.hp1
HG01361.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02165.hp2
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp2
HG03942.hp2
NA18962.hp1
NA18984.hp1
NA19012.hp2
NA19081.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-21851G>A
c.970-21851G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281127
chr1:2281127 G
G
 GCCCGAGA
others(251): Show 
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGAG
AAGACAGGCGGTGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGA
GAGAGGACA
 1 a0001c0001t0002g0077
a0001c0001t0002g0077
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.970-21844_970-2184
others(262): Show 
c.970-21844_970-21843insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACACCCGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGAC
AGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGC
GGCGGCGATCTTCAGAGAGAGGACACCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281127
chr1:2281129 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 1 a0001c0001t0005g0089
a0001c0001t0005g0089
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.970-21849_970-2184
others(70): Show 
c.970-21849_970-21848insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281129
chr1:2281129 C
C
 CTGAGAGG
others(212): Show 
CTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAG
ATCTTCAGAGAGAAGACACG
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.970-21849_970-2184
others(223): Show 
c.970-21849_970-21848insTGAGAGGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281129
chr1:2281129 C
C
 G
G
 16 a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
others(13): Show 
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0002g0124
a0001c0001t0003g0274
a0001c0001t0004g0275
a0001c0001t0005g0225
a0001c0001t0006g0284
a0001c0001t0009g0308
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0017g0287
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0065g0312
 16 HG01081.hp1
HG01361.hp2
HG02055.hp2
others(13): Show 
HG01081.hp1
HG01361.hp2
HG02055.hp2
HG02155.hp2
HG02165.hp2
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp2
HG03942.hp2
NA18962.hp1
NA18984.hp1
NA19012.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-21849C>G
c.970-21849C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281129
chr1:2281130 C
C
 CGAGAGGA
others(337): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTT
CAGAGAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0010g0047
a0001c0001t0010g0047
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.970-21844_970-2184
others(348): Show 
c.970-21844_970-21843insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCG
AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGAC
AGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAG
ATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCA
GAGAGAGGACGCCTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281130
chr1:2281130 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 2 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0110
a0001c0001t0001g0141
 2 HG01975.hp2
HG01978.hp2
HG01975.hp2
HG01978.hp2
 intron_variant MODIFIER c.970-21844_970-2184
others(156): Show 
c.970-21844_970-21843insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281130
chr1:2281130 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-21844_970-2184
others(199): Show 
c.970-21844_970-21843insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281130
chr1:2281130 C
C
 CGAGAGGA
others(211): Show 
CGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGATAT
CTTCAGAGAGAAGACACGT
 1 a0001c0008t0021g0252
a0001c0008t0021g0252
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.970-21844_970-2184
others(222): Show 
c.970-21844_970-21843insGGACAGGCGGTGGCGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGATATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281130
chr1:2281130 C
C
 T
T
 28 a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
others(25): Show 
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0002g0124
a0001c0001t0003g0274
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0006g0284
a0001c0001t0007g0162
a0001c0001t0009g0308
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0013g0069
a0001c0001t0014g0229
a0001c0001t0017g0287
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0065g0312
 28 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(25): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01361.hp1
HG01361.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp2
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp2
HG03942.hp2
NA18961.hp1
NA18962.hp1
NA18984.hp1
NA19012.hp2
NA19062.hp2
NA19081.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21848C>T
c.970-21848C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281130
chr1:2281135 A
A
 G
G
 102 a0001c0001t0001g0001
a0001c0001t0001g0030
a0001c0001t0001g0121
others(99): Show 
a0001c0001t0001g0001
a0001c0001t0001g0030
a0001c0001t0001g0121
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0307
a0001c0001t0012g0067
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0015g0201
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0070g0074
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0007t0078g0269
a0001c0010t0048g0052
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
 103 HG00280.hp2
HG00323.hp1
HG00423.hp1
others(100): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02258.hp2
HG02273.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18959.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18983.hp2
NA18991.hp1
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19043.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21843A>G
c.970-21843A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281135
chr1:2281142 C
C
 CGGCGGCG
others(423): Show 
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAG
AAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGT
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-21834_970-2183
others(434): Show 
c.970-21834_970-21833insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281142
chr1:2281142 C
C
 CGGTGGCG
others(38): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.970-21812_970-2181
others(49): Show 
c.970-21812_970-21811insAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281142
chr1:2281142 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 2 a0001c0001t0026g0050
a0001c0001t0072g0200
a0001c0001t0026g0050
a0001c0001t0072g0200
 2 NA18962.hp2
NA19030.hp2
NA18962.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-21811_970-2181
others(70): Show 
c.970-21811_970-21810insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281142
chr1:2281142 C
C
 T
T
 17 a0001c0001t0001g0205
a0001c0001t0001g0323
a0001c0001t0002g0256
others(14): Show 
a0001c0001t0001g0205
a0001c0001t0001g0323
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0003g0130
a0001c0001t0004g0114
a0001c0001t0004g0325
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0010g0047
a0001c0001t0010g0164
a0001c0001t0012g0160
a0001c0001t0018g0147
a0001c0001t0019g0233
a0001c0001t0088g0120
a0001c0003t0009g0173
a0001c0003t0020g0015
 17 HG00621.hp1
HG00738.hp1
HG00741.hp1
others(14): Show 
HG00621.hp1
HG00738.hp1
HG00741.hp1
HG01891.hp1
HG01952.hp1
HG02280.hp2
HG02300.hp2
HG03486.hp1
HG03654.hp1
HG04184.hp2
NA18967.hp2
NA19002.hp1
NA19011.hp2
NA19065.hp2
NA19091.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21836C>T
c.970-21836C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281142
chr1:2281143 G
G
 A
A
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-21835G>A
c.970-21835G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281143
chr1:2281145 T
T
 C
C
 31 a0001c0001t0001g0121
a0001c0001t0001g0313
a0001c0001t0001g0314
others(28): Show 
a0001c0001t0001g0121
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0224
a0001c0001t0003g0289
a0001c0001t0005g0066
a0001c0001t0005g0157
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0063g0259
a0001c0001t0070g0074
a0001c0010t0048g0052
a0003c0013t0032g0178
 31 HG00423.hp2
HG01109.hp1
HG01261.hp1
others(28): Show 
HG00423.hp2
HG01109.hp1
HG01261.hp1
HG01346.hp2
HG01978.hp1
HG02004.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02273.hp2
HG02572.hp1
HG02572.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp1
NA18747.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp2
NA18995.hp1
NA19074.hp1
 intron_variant MODIFIER c.970-21833T>C
c.970-21833T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281145
chr1:2281148 C
C
 CGGCGATC
others(165): Show 
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA
GAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA
TGCCCGAGAGGACAGGCGGTGGT
 1 a0001c0001t0002g0077
a0001c0001t0002g0077
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.970-21828_970-2182
others(176): Show 
c.970-21828_970-21827insCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281148
chr1:2281148 C
C
 T
T
 71 a0001c0001t0001g0001
a0001c0001t0001g0030
a0001c0001t0001g0166
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0030
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0299
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0228
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0009g0099
a0001c0001t0009g0307
a0001c0001t0012g0067
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0025g0238
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0007t0078g0269
a0001c0014t0001g0174
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 72 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(69): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01074.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01952.hp2
HG01981.hp1
HG01993.hp2
HG02071.hp2
HG02109.hp1
HG02486.hp1
HG02559.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03540.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18959.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp2
NA18991.hp1
NA19000.hp1
NA19043.hp1
NA19066.hp2
NA19070.hp1
NA19080.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21830C>T
c.970-21830C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281148
chr1:2281149 G
G
 A
A
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-21829G>A
c.970-21829G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281149
chr1:2281151 A
A
 C
C
 18 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
others(15): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
a0001c0001t0002g0129
a0001c0001t0003g0224
a0001c0001t0005g0066
a0001c0001t0005g0157
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0063g0259
a0001c0001t0070g0074
a0001c0010t0048g0052
a0003c0013t0032g0178
 18 HG01109.hp1
HG01346.hp2
HG01978.hp1
others(15): Show 
HG01109.hp1
HG01346.hp2
HG01978.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp2
HG02273.hp2
HG02572.hp1
HG02572.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
NA18971.hp2
 intron_variant MODIFIER c.970-21827A>C
c.970-21827A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281151
chr1:2281151 A
A
 T
T
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21827A>T
c.970-21827A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281151
chr1:2281160 G
G
 T
T
 5 a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0101
others(2): Show 
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0101
a0001c0001t0004g0260
a0002c0002t0002g0189
 5 HG04199.hp2
NA18961.hp1
NA19062.hp2
others(2): Show 
HG04199.hp2
NA18961.hp1
NA19062.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21818G>T
c.970-21818G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281160
chr1:2281165 A
A
 C
C
 8 a0001c0001t0006g0065
a0001c0001t0006g0310
a0001c0001t0010g0047
others(5): Show 
a0001c0001t0006g0065
a0001c0001t0006g0310
a0001c0001t0010g0047
a0001c0001t0025g0122
a0001c0001t0042g0319
a0001c0001t0049g0087
a0001c0001t0063g0259
a0002c0004t0001g0188
 8 HG00323.hp1
HG00621.hp1
HG02074.hp2
others(5): Show 
HG00323.hp1
HG00621.hp1
HG02074.hp2
HG02109.hp2
HG02300.hp1
HG04199.hp1
NA18964.hp2
NA19002.hp2
 intron_variant MODIFIER c.970-21813A>C
c.970-21813A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281165
chr1:2281165 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 4 a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0002g0101
others(1): Show 
a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0002g0101
a0001c0001t0003g0209
 4 HG01261.hp2
HG03710.hp2
NA19062.hp2
others(1): Show 
HG01261.hp2
HG03710.hp2
NA19062.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-21810_970-2179
others(24): Show 
c.970-21810_970-21791delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281165
chr1:2281165 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 3 a0001c0001t0001g0283
a0001c0001t0004g0260
a0001c0001t0006g0300
a0001c0001t0001g0283
a0001c0001t0004g0260
a0001c0001t0006g0300
 3 HG01074.hp1
NA18961.hp1
NA21309.hp1
HG01074.hp1
NA18961.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21810_970-2174
others(67): Show 
c.970-21810_970-21748delACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281165
chr1:2281165 AGGACGCC
others(187): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0058g0297
a0001c0001t0058g0297
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-21810_970-2161
others(4): Show 
c.970-21810_970-21617del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281165
chr1:2281166 G
G
 A
A
 9 a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0003g0044
others(6): Show 
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0003g0044
a0001c0001t0006g0284
a0001c0001t0017g0287
a0001c0001t0023g0139
a0001c0001t0050g0309
a0001c0001t0064g0311
a0001c0001t0086g0286
 9 HG01109.hp2
HG02258.hp1
HG02698.hp2
others(6): Show 
HG01109.hp2
HG02258.hp1
HG02698.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03927.hp1
NA18990.hp1
NA19012.hp2
 intron_variant MODIFIER c.970-21812G>A
c.970-21812G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281166
chr1:2281166 G
G
 GA
GA
 23 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(20): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0003g0019
a0001c0001t0003g0191
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0134
a0001c0001t0005g0206
a0001c0001t0005g0227
a0001c0001t0006g0211
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0103
a0001c0001t0018g0028
a0001c0001t0067g0097
a0001c0005t0003g0137
 23 HG01928.hp1
HG01975.hp1
HG02145.hp1
others(20): Show 
HG01928.hp1
HG01975.hp1
HG02145.hp1
HG02165.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG03688.hp1
NA18522.hp1
NA18946.hp2
NA18948.hp1
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA19007.hp1
NA19011.hp1
NA19065.hp1
NA19067.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21812_970-2181
others(5): Show 
c.970-21812_970-21811insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281166
chr1:2281166 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 2 a0001c0001t0005g0153
a0001c0001t0056g0315
a0001c0001t0005g0153
a0001c0001t0056g0315
 2 HG00733.hp2
HG02717.hp2
HG00733.hp2
HG02717.hp2
 intron_variant MODIFIER c.970-21811_970-2181
others(27): Show 
c.970-21811_970-21810insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281166
chr1:2281169 C
C
 A
A
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-21809C>A
c.970-21809C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281169
chr1:2281169 C
C
 T
T
 44 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(41): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0242
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0191
a0001c0001t0003g0237
a0001c0001t0003g0246
a0001c0001t0003g0289
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0227
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0007g0108
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0013g0079
a0001c0001t0018g0028
a0001c0001t0053g0082
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0005t0003g0137
a0002c0002t0002g0002
a0002c0004t0002g0186
 45 HG00544.hp2
HG01099.hp1
HG01256.hp1
others(42): Show 
HG00544.hp2
HG01099.hp1
HG01256.hp1
HG01258.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp1
HG02071.hp1
HG02145.hp1
HG02165.hp1
HG02273.hp2
HG02486.hp2
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03491.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG04184.hp1
NA18522.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18956.hp2
NA18961.hp2
NA18967.hp1
NA18984.hp2
NA18995.hp1
NA19007.hp1
NA19011.hp1
NA19065.hp1
NA19067.hp1
NA19074.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21809C>T
c.970-21809C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281169
chr1:2281169 CGCCCGAG
others(468): Show 
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGAT
 C
C
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.970-21800_970-2132
others(4): Show 
c.970-21800_970-21326del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281169
chr1:2281170 G
G
 A
A
 21 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0285
others(18): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0285
a0001c0001t0002g0036
a0001c0001t0002g0105
a0001c0001t0002g0222
a0001c0001t0003g0044
a0001c0001t0005g0153
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0006g0284
a0001c0001t0007g0086
a0001c0001t0008g0042
a0001c0001t0010g0092
a0001c0001t0017g0287
a0001c0001t0023g0139
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0070g0074
a0001c0001t0086g0286
 21 HG00280.hp1
HG00733.hp2
HG00735.hp1
others(18): Show 
HG00280.hp1
HG00733.hp2
HG00735.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG02155.hp1
HG02258.hp1
HG02572.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG03017.hp2
HG03139.hp2
HG03453.hp1
HG03704.hp1
HG03927.hp1
NA18971.hp1
NA18990.hp1
NA19012.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21808G>A
c.970-21808G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281170
chr1:2281172 C
C
 G
G
 11 a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0003g0044
others(8): Show 
a0001c0001t0001g0285
a0001c0001t0002g0105
a0001c0001t0003g0044
a0001c0001t0005g0153
a0001c0001t0006g0284
a0001c0001t0017g0287
a0001c0001t0023g0139
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0086g0286
 11 HG00733.hp2
HG01109.hp2
HG02258.hp1
others(8): Show 
HG00733.hp2
HG01109.hp2
HG02258.hp1
HG02698.hp2
HG02717.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03927.hp1
NA18990.hp1
NA19012.hp2
 intron_variant MODIFIER c.970-21806C>G
c.970-21806C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281172
chr1:2281173 C
C
 T
T
 97 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0135
others(94): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0002g0036
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0044
a0001c0001t0003g0046
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0005g0153
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0009g0099
a0001c0001t0009g0307
a0001c0001t0012g0067
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0201
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0036g0262
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0064g0311
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0007t0078g0269
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 98 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(95): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02071.hp2
HG02074.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18959.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18983.hp2
NA18990.hp1
NA18991.hp1
NA19000.hp1
NA19002.hp1
NA19012.hp2
NA19043.hp1
NA19063.hp2
NA19066.hp2
NA19070.hp1
NA19074.hp2
NA19080.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21805C>T
c.970-21805C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281173
chr1:2281178 G
G
 A
A
 227 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(224): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0202
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
 228 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(225): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21800G>A
c.970-21800G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281178
chr1:2281178 G
G
 GGACAGGC
others(510): Show 
GGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGA
GAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAA
 1 a0001c0001t0010g0048
a0001c0001t0010g0048
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21791_970-2179
others(521): Show 
c.970-21791_970-21790insCGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA
CGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281178
chr1:2281178 G
G
 GGACAGGC
others(403): Show 
GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAA
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-21791_970-2179
others(414): Show 
c.970-21791_970-21790insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281178
chr1:2281178 G
G
 GGACAGGC
others(102): Show 
GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAA
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-21791_970-2179
others(113): Show 
c.970-21791_970-21790insCGGCGGCGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281178
chr1:2281178 G
G
 GGACAGGC
others(59): Show 
GGACAGGCGGTGGTGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAA
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-21788_970-2178
others(70): Show 
c.970-21788_970-21787insTGGAGATCTTCATAGAGAGGTGGCGG
AGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281178
chr1:2281178 GGACAGGC
others(597): Show 
GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGAC
AGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAG
GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
GAGAA
 G
G
 1 a0001c0001t0006g0310
a0001c0001t0006g0310
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.970-21775_970-2117
others(4): Show 
c.970-21775_970-21172del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281178
chr1:2281183 G
G
 T
T
 1 a0001c0001t0029g0056
a0001c0001t0029g0056
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-21795G>T
c.970-21795G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281183
chr1:2281185 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0007g0086
a0001c0001t0007g0086
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.970-21793_970-2179
others(27): Show 
c.970-21793_970-21792insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281185
chr1:2281185 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 2 a0001c0001t0018g0028
a0001c0005t0003g0137
a0001c0001t0018g0028
a0001c0005t0003g0137
 2 HG03688.hp1
NA19067.hp1
HG03688.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-21776_970-2177
others(114): Show 
c.970-21776_970-21775insGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGTGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281185
chr1:2281185 C
C
 CGGTGGCG
others(38): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0015g0126
a0001c0001t0015g0126
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.970-21776_970-2177
others(49): Show 
c.970-21776_970-21775insGAGAGAGAGGACGCCCGAGAAGACAG
GTGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281185
chr1:2281185 C
C
 T
T
 14 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0141
others(11): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0003g0117
a0001c0001t0005g0153
a0001c0001t0009g0308
a0001c0001t0011g0265
a0001c0001t0065g0312
a0001c0008t0021g0252
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 14 HG00733.hp2
HG01070.hp1
HG01081.hp1
others(11): Show 
HG00733.hp2
HG01070.hp1
HG01081.hp1
HG01243.hp1
HG01975.hp2
HG01978.hp2
HG02165.hp2
HG02630.hp2
HG02647.hp2
HG03540.hp1
HG03540.hp2
HG03942.hp2
NA18944.hp2
NA19081.hp1
 intron_variant MODIFIER c.970-21793C>T
c.970-21793C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281185
chr1:2281186 G
G
 A
A
 3 a0001c0001t0002g0106
a0001c0001t0009g0095
a0001c0001t0046g0057
a0001c0001t0002g0106
a0001c0001t0009g0095
a0001c0001t0046g0057
 3 HG02647.hp1
HG02818.hp2
HG06807.hp2
HG02647.hp1
HG02818.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-21792G>A
c.970-21792G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281186
chr1:2281188 T
T
 C
C
 17 a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0094
others(14): Show 
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0003g0063
a0001c0001t0005g0066
a0001c0001t0006g0065
a0001c0001t0007g0098
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0002c0004t0001g0188
a0002c0015t0002g0185
a0003c0013t0032g0178
 17 HG00099.hp2
HG00323.hp2
HG01346.hp2
others(14): Show 
HG00099.hp2
HG00323.hp2
HG01346.hp2
HG01515.hp1
HG01884.hp1
HG02055.hp1
HG02074.hp2
HG02300.hp1
HG02572.hp1
HG03041.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG04199.hp1
NA18964.hp2
NA18967.hp1
NA19240.hp1
 intron_variant MODIFIER c.970-21790T>C
c.970-21790T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281188
chr1:2281191 C
C
 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCGGTGGT
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.970-21776_970-2177
others(47): Show 
c.970-21776_970-21775insGAGAGAGGACACCTGAGAAGACAGGC
GGTGGTGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281191
chr1:2281191 C
C
 T
T
 28 a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
others(25): Show 
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0222
a0001c0001t0002g0326
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0062
a0001c0001t0003g0237
a0001c0001t0003g0289
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0007g0108
a0001c0001t0008g0042
a0001c0001t0009g0296
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0017g0068
a0001c0001t0025g0238
a0001c0001t0053g0082
a0001c0001t0071g0024
a0002c0002t0002g0002
a0002c0004t0002g0186
 29 HG00280.hp1
HG00621.hp2
HG01099.hp1
others(26): Show 
HG00280.hp1
HG00621.hp2
HG01099.hp1
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01884.hp2
HG02004.hp1
HG02071.hp1
HG02155.hp1
HG02486.hp2
HG02698.hp1
HG02896.hp2
HG03130.hp1
HG03491.hp1
HG03654.hp1
HG04184.hp1
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18971.hp1
NA18995.hp1
NA18998.hp1
NA19057.hp1
NA19074.hp1
NA19079.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-21787C>T
c.970-21787C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281191
chr1:2281191 CGGAGATC
others(296): Show 
CGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
TGGT
 C
C
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.970-21775_970-2147
others(4): Show 
c.970-21775_970-21473del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281191
chr1:2281194 A
A
 C
C
 13 a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
others(10): Show 
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0003g0224
a0001c0001t0005g0066
a0001c0001t0006g0065
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0070g0074
a0003c0013t0032g0178
 13 HG00099.hp2
HG00323.hp2
HG01109.hp1
others(10): Show 
HG00099.hp2
HG00323.hp2
HG01109.hp1
HG01346.hp2
HG02055.hp1
HG02074.hp2
HG02559.hp2
HG02572.hp1
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
 intron_variant MODIFIER c.970-21784A>C
c.970-21784A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281194
chr1:2281203 T
T
 G
G
 226 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(223): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 226 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(223): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21775T>G
c.970-21775T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281203
chr1:2281203 T
T
 TAGAGAGG
others(59): Show 
TAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCG
GTGGCGGAGATCTTCAG
 3 a0001c0001t0003g0127
a0001c0001t0008g0196
a0001c0001t0012g0258
a0001c0001t0003g0127
a0001c0001t0008g0196
a0001c0001t0012g0258
 3 HG03209.hp2
NA18954.hp1
NA18959.hp1
HG03209.hp2
NA18954.hp1
NA18959.hp1
 intron_variant MODIFIER c.970-21768_970-2176
others(70): Show 
c.970-21768_970-21767insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281203
chr1:2281208 A
A
 C
C
 3 a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0029g0056
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0029g0056
 3 HG00099.hp2
HG00323.hp2
HG03516.hp1
HG00099.hp2
HG00323.hp2
HG03516.hp1
 intron_variant MODIFIER c.970-21770A>C
c.970-21770A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281208
chr1:2281208 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 45 a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
others(42): Show 
a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0304
a0001c0001t0002g0154
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0004g0220
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0045g0294
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0085g0263
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0011g0179
a0003c0013t0032g0178
 46 HG00280.hp2
HG00423.hp1
HG00438.hp2
others(43): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01109.hp1
HG01169.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02071.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18991.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp2
NA19080.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21767_970-2174
others(24): Show 
c.970-21767_970-21748delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(57): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGC
 A
A
 6 a0001c0001t0002g0242
a0001c0001t0003g0246
a0001c0001t0008g0210
others(3): Show 
a0001c0001t0002g0242
a0001c0001t0003g0246
a0001c0001t0008g0210
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0084g0112
 6 HG03490.hp1
NA18947.hp1
NA18950.hp1
others(3): Show 
HG03490.hp1
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA19000.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-21767_970-2170
others(68): Show 
c.970-21767_970-21704delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(100): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGC
 A
A
 2 a0001c0001t0003g0204
a0001c0001t0009g0307
a0001c0001t0003g0204
a0001c0001t0009g0307
 2 HG01346.hp1
HG03098.hp1
HG01346.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-21767_970-2166
others(4): Show 
c.970-21767_970-21661del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(144): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GC
 A
A
 1 a0001c0001t0005g0198
a0001c0001t0005g0198
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.970-21767_970-2161
others(4): Show 
c.970-21767_970-21617del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(230): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
 A
A
 3 a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0014t0001g0174
a0001c0001t0001g0299
a0001c0001t0016g0298
a0001c0014t0001g0174
 3 HG02897.hp1
HG02922.hp2
HG03225.hp1
HG02897.hp1
HG02922.hp2
HG03225.hp1
 intron_variant MODIFIER c.970-21767_970-2153
others(4): Show 
c.970-21767_970-21531del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(402): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGC
 A
A
 1 a0001c0001t0021g0250
a0001c0001t0021g0250
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.970-21767_970-2135
others(4): Show 
c.970-21767_970-21359del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(488): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0012g0067
a0001c0001t0012g0067
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.970-21767_970-2127
others(4): Show 
c.970-21767_970-21273del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(574): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0009g0099
a0001c0001t0009g0099
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.970-21767_970-2118
others(4): Show 
c.970-21767_970-21187del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(660): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0076g0113
a0001c0001t0076g0113
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.970-21767_970-2110
others(4): Show 
c.970-21767_970-21101del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(1005): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
TGAGAAGACAGGC
 A
A
 1 a0001c0001t0020g0167
a0001c0001t0020g0167
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.970-21767_970-2075
others(4): Show 
c.970-21767_970-20756del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281208 AGGACGCC
others(1091): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
 A
A
 1 a0001c0001t0036g0262
a0001c0001t0036g0262
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.970-21767_970-2067
others(4): Show 
c.970-21767_970-20670del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281208
chr1:2281209 G
G
 A
A
 14 a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
others(11): Show 
a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0101
a0001c0001t0003g0209
a0001c0001t0004g0090
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0017g0287
a0001c0001t0046g0057
a0001c0001t0064g0311
a0001c0001t0083g0231
a0001c0001t0086g0286
 14 HG01099.hp2
HG01261.hp2
HG02698.hp2
others(11): Show 
HG01099.hp2
HG01261.hp2
HG02698.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03710.hp2
HG06807.hp2
NA18940.hp2
NA19012.hp2
NA19062.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21769G>A
c.970-21769G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281209
chr1:2281209 G
G
 GA
GA
 16 a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0093
others(13): Show 
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0213
a0001c0001t0003g0241
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0005g0253
a0001c0001t0008g0041
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0019g0223
a0001c0001t0026g0295
a0001c0001t0041g0306
a0001c0001t0049g0087
 16 HG00642.hp2
HG01081.hp2
HG02622.hp1
others(13): Show 
HG00642.hp2
HG01081.hp2
HG02622.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG04199.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18991.hp2
NA19007.hp2
NA19065.hp2
NA19067.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21769_970-2176
others(5): Show 
c.970-21769_970-21768insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281209
chr1:2281209 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 5 a0001c0001t0002g0277
a0001c0001t0004g0219
a0001c0001t0005g0157
others(2): Show 
a0001c0001t0002g0277
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0010g0164
a0001c0001t0030g0054
 5 HG02273.hp2
HG03831.hp1
NA18983.hp2
others(2): Show 
HG02273.hp2
HG03831.hp1
NA18983.hp2
NA19011.hp2
NA19043.hp1
 intron_variant MODIFIER c.970-21768_970-2176
others(27): Show 
c.970-21768_970-21767insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281209
chr1:2281209 G
G
 GGTGGCGG
others(147): Show 
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGA
 1 a0001c0001t0044g0292
a0001c0001t0044g0292
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.970-21768_970-2176
others(158): Show 
c.970-21768_970-21767insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281209
chr1:2281212 C
C
 CGCCTGAG
others(80): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-21763_970-2176
others(91): Show 
c.970-21763_970-21762insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281212
chr1:2281212 C
C
 CGCCTGAG
others(122): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-21763_970-2176
others(133): Show 
c.970-21763_970-21762insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281212
chr1:2281212 C
C
 T
T
 21 a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0093
others(18): Show 
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0213
a0001c0001t0003g0241
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0005g0253
a0001c0001t0008g0041
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0019g0223
a0001c0001t0026g0295
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0059g0244
a0002c0004t0001g0188
 21 HG00642.hp2
HG01081.hp2
HG01243.hp2
others(18): Show 
HG00642.hp2
HG01081.hp2
HG01243.hp2
HG02300.hp1
HG02622.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG04199.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp1
NA18991.hp2
NA19002.hp2
NA19007.hp2
NA19062.hp1
NA19065.hp2
NA19067.hp2
NA19088.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21766C>T
c.970-21766C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281212
chr1:2281213 G
G
 A
A
 20 a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
others(17): Show 
a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0101
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0004g0090
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0064g0311
a0001c0001t0083g0231
a0001c0001t0086g0286
 20 HG01099.hp2
HG01261.hp2
HG02015.hp2
others(17): Show 
HG01099.hp2
HG01261.hp2
HG02015.hp2
HG02273.hp2
HG02698.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG06807.hp2
NA18940.hp2
NA18983.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19062.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21765G>A
c.970-21765G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281213
chr1:2281215 C
C
 CTGAGAAG
others(102): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGTGGAGATC
TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAAGACACG
 1 a0001c0001t0013g0079
a0001c0001t0013g0079
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.970-21763_970-2176
others(113): Show 
c.970-21763_970-21762insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGTGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281215
chr1:2281215 C
C
 G
G
 19 a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
others(16): Show 
a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0101
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0004g0090
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0010g0164
a0001c0001t0017g0287
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0064g0311
a0001c0001t0083g0231
a0001c0001t0086g0286
 19 HG01099.hp2
HG01261.hp2
HG02273.hp2
others(16): Show 
HG01099.hp2
HG01261.hp2
HG02273.hp2
HG02698.hp2
HG03017.hp2
HG03453.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG06807.hp2
NA18940.hp2
NA18983.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19062.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21763C>G
c.970-21763C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281215
chr1:2281216 C
C
 T
T
 32 a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
others(29): Show 
a0001c0001t0001g0119
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0101
a0001c0001t0002g0106
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0209
a0001c0001t0003g0289
a0001c0001t0004g0090
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0007g0108
a0001c0001t0009g0296
a0001c0001t0010g0164
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0017g0287
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0053g0082
a0001c0001t0064g0311
a0001c0001t0083g0231
a0001c0001t0086g0286
a0002c0002t0002g0189
 32 HG01070.hp2
HG01099.hp1
HG01099.hp2
others(29): Show 
HG01070.hp2
HG01099.hp1
HG01099.hp2
HG01261.hp2
HG02004.hp1
HG02071.hp1
HG02273.hp2
HG02647.hp1
HG02698.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03453.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18940.hp2
NA18983.hp2
NA18995.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19062.hp2
NA19074.hp1
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21762C>T
c.970-21762C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281216
chr1:2281221 A
A
 AGACAGGT
others(165): Show 
AGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAG
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-21751_970-2175
others(176): Show 
c.970-21751_970-21750insTGGTGGCGGAGATCTTCAGAGAGCGG
ACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281221
chr1:2281221 A
A
 G
G
 15 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
others(12): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
a0001c0001t0005g0089
a0001c0001t0006g0065
a0001c0001t0007g0108
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0014g0051
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0059g0244
a0001c0001t0081g0083
a0002c0004t0001g0188
 15 HG00621.hp1
HG01099.hp1
HG01361.hp1
others(12): Show 
HG00621.hp1
HG01099.hp1
HG01361.hp1
HG01884.hp2
HG02074.hp2
HG02300.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp1
NA18964.hp2
NA18982.hp1
NA19088.hp2
 intron_variant MODIFIER c.970-21757A>G
c.970-21757A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281221
chr1:2281226 G
G
 T
T
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-21752G>T
c.970-21752G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281226
chr1:2281228 C
C
 T
T
 12 a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0002g0129
others(9): Show 
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0002g0129
a0001c0001t0003g0127
a0001c0001t0003g0209
a0001c0001t0010g0164
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0050g0309
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0007g0171
 12 HG01261.hp2
HG02258.hp1
HG02630.hp1
others(9): Show 
HG01261.hp2
HG02258.hp1
HG02630.hp1
HG03041.hp1
HG03471.hp1
HG03710.hp2
HG03927.hp1
NA18954.hp1
NA18971.hp2
NA19011.hp2
NA19070.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-21750C>T
c.970-21750C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281228
chr1:2281229 G
G
 A
A
 2 a0001c0001t0002g0093
a0001c0001t0047g0293
a0001c0001t0002g0093
a0001c0001t0047g0293
 2 HG03471.hp2
HG03579.hp1
HG03471.hp2
HG03579.hp1
 intron_variant MODIFIER c.970-21749G>A
c.970-21749G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281229
chr1:2281231 T
T
 C
C
 16 a0001c0001t0001g0135
a0001c0001t0002g0075
a0001c0001t0002g0076
others(13): Show 
a0001c0001t0001g0135
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0029g0056
a0001c0001t0049g0087
a0001c0001t0070g0074
a0001c0010t0048g0052
a0002c0002t0002g0189
 16 HG00099.hp2
HG00323.hp2
HG00621.hp1
others(13): Show 
HG00099.hp2
HG00323.hp2
HG00621.hp1
HG00735.hp1
HG01346.hp2
HG02015.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02698.hp1
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG04199.hp1
HG04199.hp2
NA18980.hp1
 intron_variant MODIFIER c.970-21747T>C
c.970-21747T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281231
chr1:2281234 C
C
 T
T
 10 a0001c0001t0001g0271
a0001c0001t0004g0218
a0001c0001t0005g0089
others(7): Show 
a0001c0001t0001g0271
a0001c0001t0004g0218
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0006g0065
a0001c0001t0014g0051
a0001c0001t0059g0244
a0001c0001t0088g0120
a0001c0006t0040g0053
a0002c0004t0001g0188
 10 HG00733.hp2
HG01361.hp1
HG01884.hp2
others(7): Show 
HG00733.hp2
HG01361.hp1
HG01884.hp2
HG02074.hp2
HG02300.hp1
HG03130.hp2
HG03225.hp2
HG04184.hp1
NA19088.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21744C>T
c.970-21744C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281234
chr1:2281237 A
A
 C
C
 10 a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0247
others(7): Show 
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0070g0074
 10 HG00735.hp1
HG01346.hp2
HG02015.hp2
others(7): Show 
HG00735.hp1
HG01346.hp2
HG02015.hp2
HG02559.hp2
HG02572.hp1
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21741A>C
c.970-21741A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281237
chr1:2281246 G
G
 T
T
 7 a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0062
others(4): Show 
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0289
a0001c0001t0007g0108
a0001c0001t0009g0296
a0001c0001t0053g0082
 7 HG01099.hp1
HG02071.hp1
HG03130.hp1
others(4): Show 
HG01099.hp1
HG02071.hp1
HG03130.hp1
HG03654.hp1
HG04184.hp2
NA18995.hp1
NA19074.hp1
 intron_variant MODIFIER c.970-21732G>T
c.970-21732G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281246
chr1:2281251 A
A
 C
C
 2 a0001c0001t0002g0094
a0001c0001t0005g0066
a0001c0001t0002g0094
a0001c0001t0005g0066
 2 HG01346.hp2
HG03041.hp2
HG01346.hp2
HG03041.hp2
 intron_variant MODIFIER c.970-21727A>C
c.970-21727A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281251
chr1:2281251 AG
AG
 A
A
 55 a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
others(52): Show 
a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0045g0294
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0011g0179
a0003c0013t0032g0178
 56 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(53): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01109.hp1
HG01169.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG03017.hp2
HG03453.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18983.hp2
NA18991.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp2
NA19080.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21726delG
c.970-21726delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281251
chr1:2281251 AGAGATGC
others(14): Show 
AGAGATGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0002g0301
a0001c0001t0009g0296
a0001c0001t0002g0301
a0001c0001t0009g0296
 2 HG01099.hp1
HG04184.hp2
HG01099.hp1
HG04184.hp2
 intron_variant MODIFIER c.970-21725_970-2170
others(25): Show 
c.970-21725_970-21705delAGATGCCCGAGAAGACAGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281251
chr1:2281251 AGAGATGC
others(144): Show 
AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GC
 A
A
 1 a0001c0001t0003g0062
a0001c0001t0003g0062
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.970-21725_970-2157
others(4): Show 
c.970-21725_970-21575del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281251
chr1:2281252 G
G
 GGACACCT
others(58): Show 
GGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGA
 1 a0001c0003t0020g0014
a0001c0003t0020g0014
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.970-21726_970-2172
others(69): Show 
c.970-21726_970-21725insGACACCTGAGAAGACAGGCAGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGACGCCC
others(58): Show 
GGACGCCCGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGA
 1 a0001c0001t0003g0044
a0001c0001t0003g0044
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(69): Show 
c.970-21726_970-21725insGACGCCCGAGAAGACAGGCAGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGACGCCC
others(122): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(133): Show 
c.970-21726_970-21725insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGACGCCC
others(207): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGCGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGA
 1 a0001c0001t0010g0048
a0001c0001t0010g0048
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(218): Show 
c.970-21726_970-21725insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCATAGAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGA
GCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(46): Show 
c.970-21726_970-21725insGACGCCCGAGAAGACAGGTGGTGGCG
GAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGATGCCC
others(207): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGG
AGATCTTCAGAGAGA
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(218): Show 
c.970-21726_970-21725insGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGATGCCC
others(617): Show 
GGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTG
GTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACACCCGAGAAGACAGGCGGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG
GCGGTGGCGGAGATCTTCATAGAGA
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.970-21726_970-2172
others(628): Show 
c.970-21726_970-21725insGATGCCCGAGAGGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGA
GAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
ACCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGTGGCGG
others(15): Show 
GGTGGCGGAGATCTTCAGAGAGA
 2 a0001c0001t0002g0326
a0001c0001t0007g0108
a0001c0001t0002g0326
a0001c0001t0007g0108
 2 HG03130.hp1
HG03654.hp1
HG03130.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(26): Show 
c.970-21726_970-21725insGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGTGGCGG
others(58): Show 
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGA
 1 a0001c0001t0053g0082
a0001c0001t0053g0082
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(69): Show 
c.970-21726_970-21725insGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 G
G
 GGTGGCGG
others(144): Show 
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GA
 1 a0001c0001t0003g0289
a0001c0001t0003g0289
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.970-21726_970-2172
others(155): Show 
c.970-21726_970-21725insGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281252 GA
GA
 G
G
 137 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0020
others(134): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0271
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0037
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0086
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0295
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0077g0011
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0010t0048g0052
a0002c0002t0002g0002
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 137 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(134): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp2
HG01975.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02735.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21725delA
c.970-21725delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281252
chr1:2281253 A
A
 AGATGCCC
others(251): Show 
AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAG
 1 a0001c0001t0003g0214
a0001c0001t0003g0214
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.970-21680_970-2167
others(262): Show 
c.970-21680_970-21679insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281253
chr1:2281253 A
A
 G
G
 5 a0001c0001t0002g0109
a0001c0001t0004g0218
a0001c0001t0010g0048
others(2): Show 
a0001c0001t0002g0109
a0001c0001t0004g0218
a0001c0001t0010g0048
a0002c0002t0002g0002
a0002c0004t0002g0186
 5 HG01258.hp1
HG02015.hp1
HG02486.hp2
others(2): Show 
HG01258.hp1
HG02015.hp1
HG02486.hp2
HG04184.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21725A>G
c.970-21725A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281253
chr1:2281256 T
T
 A
A
 3 a0001c0001t0007g0086
a0001c0001t0049g0087
a0001c0001t0063g0259
a0001c0001t0007g0086
a0001c0001t0049g0087
a0001c0001t0063g0259
 3 HG00735.hp1
HG02109.hp2
HG04199.hp1
HG00735.hp1
HG02109.hp2
HG04199.hp1
 intron_variant MODIFIER c.970-21722T>A
c.970-21722T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281256
chr1:2281256 T
T
 C
C
 192 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(189): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0037
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 193 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(190): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21722T>C
c.970-21722T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281256
chr1:2281256 TGCCCGAG
others(36): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 T
T
 1 a0001c0001t0009g0308
a0001c0001t0009g0308
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.970-21681_970-2163
others(47): Show 
c.970-21681_970-21639delGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281256
chr1:2281257 G
G
 A
A
 70 a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
others(67): Show 
a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0045
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0011g0179
a0003c0013t0032g0178
 71 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(68): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01109.hp1
HG01169.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG03017.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18956.hp2
NA18961.hp1
NA18961.hp2
NA18983.hp2
NA18984.hp2
NA18991.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19082.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21721G>A
c.970-21721G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281257
chr1:2281259 C
C
 G
G
 59 a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
others(56): Show 
a0001c0001t0001g0001
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0045g0294
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0011g0179
a0003c0013t0032g0178
 60 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(57): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01109.hp1
HG01169.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG03017.hp2
HG03130.hp1
HG03453.hp1
HG03654.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18983.hp2
NA18991.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21719C>G
c.970-21719C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281259
chr1:2281260 C
C
 CGAGAGGA
others(122): Show 
CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0008t0021g0252
a0001c0008t0021g0252
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.970-21714_970-2171
others(133): Show 
c.970-21714_970-21713insGGACAGGCGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281260
chr1:2281260 C
C
 T
T
 75 a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
others(72): Show 
a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0049
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0045
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0289
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0010g0164
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0045g0294
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0007t0078g0269
a0002c0002t0002g0180
a0002c0002t0011g0179
a0002c0004t0001g0188
a0003c0013t0032g0178
 76 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(73): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01109.hp1
HG01169.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp2
HG03017.hp2
HG03130.hp1
HG03453.hp1
HG03654.hp1
HG03654.hp2
HG03831.hp2
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18956.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18983.hp2
NA18984.hp2
NA18991.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19082.hp2
NA19088.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21718C>T
c.970-21718C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281260
chr1:2281265 A
A
 G
G
 12 a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
others(9): Show 
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0094
a0001c0001t0004g0115
a0001c0001t0005g0066
a0001c0001t0006g0065
a0001c0001t0006g0300
a0001c0001t0010g0047
a0001c0001t0014g0070
a0001c0001t0059g0244
a0002c0002t0002g0189
 12 HG00099.hp2
HG00323.hp2
HG00621.hp1
others(9): Show 
HG00099.hp2
HG00323.hp2
HG00621.hp1
HG01074.hp1
HG01257.hp2
HG01346.hp2
HG02074.hp2
HG03041.hp2
HG04199.hp2
NA18980.hp2
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21713A>G
c.970-21713A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281265
chr1:2281270 G
G
 T
T
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-21708G>T
c.970-21708G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281270
chr1:2281272 C
C
 CGGCGGCG
others(16): Show 
CGGCGGCGGCGATCTTCAGAGAGA
 3 a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
 3 HG02145.hp1
HG02615.hp2
HG02809.hp2
HG02145.hp1
HG02615.hp2
HG02809.hp2
 intron_variant MODIFIER c.970-21704_970-2170
others(27): Show 
c.970-21704_970-21703insCGGCGGCGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281272
chr1:2281272 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-21682_970-2168
others(114): Show 
c.970-21682_970-21681insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281272
chr1:2281272 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGCGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0004g0114
a0001c0001t0004g0114
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-21682_970-2168
others(114): Show 
c.970-21682_970-21681insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGCGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281272
chr1:2281272 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-21681_970-2168
others(70): Show 
c.970-21681_970-21680insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281272
chr1:2281272 C
C
 T
T
 10 a0001c0001t0002g0256
a0001c0001t0003g0158
a0001c0001t0004g0025
others(7): Show 
a0001c0001t0002g0256
a0001c0001t0003g0158
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0019g0223
a0001c0001t0046g0057
a0001c0001t0054g0159
a0001c0001t0064g0311
a0002c0004t0002g0186
 10 HG00738.hp1
HG01928.hp2
HG01952.hp2
others(7): Show 
HG00738.hp1
HG01928.hp2
HG01952.hp2
HG02273.hp2
HG02486.hp2
HG03704.hp1
HG03831.hp1
HG06807.hp2
NA19063.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-21706C>T
c.970-21706C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281272
chr1:2281273 G
G
 A
A
 1 a0001c0001t0009g0095
a0001c0001t0009g0095
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.970-21705G>A
c.970-21705G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281273
chr1:2281275 T
T
 C
C
 14 a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0105
others(11): Show 
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0070g0074
 14 HG00735.hp1
HG01109.hp2
HG01346.hp2
others(11): Show 
HG00735.hp1
HG01109.hp2
HG01346.hp2
HG02015.hp2
HG02559.hp2
HG02572.hp1
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG04199.hp1
NA18971.hp2
NA19030.hp1
 intron_variant MODIFIER c.970-21703T>C
c.970-21703T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281275
chr1:2281278 C
C
 T
T
 24 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(21): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0271
a0001c0001t0002g0049
a0001c0001t0002g0081
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0115
a0001c0001t0004g0218
a0001c0001t0005g0153
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0006g0300
a0001c0001t0010g0047
a0001c0001t0011g0265
a0001c0001t0014g0070
a0002c0002t0002g0189
a0002c0004t0001g0188
a0003c0013t0032g0178
 24 HG00621.hp1
HG00733.hp2
HG01074.hp1
others(21): Show 
HG00621.hp1
HG00733.hp2
HG01074.hp1
HG01257.hp2
HG01361.hp2
HG01975.hp1
HG02165.hp1
HG02300.hp1
HG02630.hp2
HG03130.hp2
HG03209.hp1
HG03654.hp2
HG04184.hp1
HG04199.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18980.hp2
NA18984.hp2
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21700C>T
c.970-21700C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281278
chr1:2281281 A
A
 AGATCTTC
others(123): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAGGACAGGCGGCGGCGGC
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-21682_970-2168
others(134): Show 
c.970-21682_970-21681insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281281
chr1:2281281 A
A
 AGATCTTC
others(188): Show 
AGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGC
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-21679_970-2167
others(199): Show 
c.970-21679_970-21678insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGG
CGATCTTCAGAGAGAGGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281281
chr1:2281281 A
A
 C
C
 12 a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0129
others(9): Show 
a0001c0001t0002g0077
a0001c0001t0002g0094
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0070g0074
 12 HG00735.hp1
HG02015.hp2
HG02559.hp2
others(9): Show 
HG00735.hp1
HG02015.hp2
HG02559.hp2
HG02572.hp1
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG04199.hp1
NA18971.hp2
NA19030.hp1
 intron_variant MODIFIER c.970-21697A>C
c.970-21697A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281281
chr1:2281281 A
A
 T
T
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-21697A>T
c.970-21697A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281281
chr1:2281288 C
C
 CAG
CAG
 7 a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0004g0013
others(4): Show 
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0004g0013
a0001c0001t0010g0164
a0001c0001t0015g0126
a0001c0001t0018g0149
a0001c0001t0023g0139
 7 HG00609.hp1
HG03710.hp2
HG03927.hp1
others(4): Show 
HG00609.hp1
HG03710.hp2
HG03927.hp1
NA18990.hp2
NA19000.hp2
NA19011.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-21683_970-2168
others(6): Show 
c.970-21683_970-21682dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281288
chr1:2281288 C
C
 CAGAGAGA
others(124): Show 
CAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-21683_970-2168
others(135): Show 
c.970-21683_970-21682insAGACACGTGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281288
chr1:2281290 G
G
 T
T
 3 a0001c0001t0001g0235
a0001c0001t0059g0244
a0002c0002t0002g0002
a0001c0001t0001g0235
a0001c0001t0059g0244
a0002c0002t0002g0002
 3 HG01256.hp1
HG02055.hp2
NA19088.hp2
HG01256.hp1
HG02055.hp2
NA19088.hp2
 intron_variant MODIFIER c.970-21688G>T
c.970-21688G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281290
chr1:2281295 A
A
 C
C
 8 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
others(5): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0029g0056
a0001c0001t0046g0057
a0001c0001t0070g0074
 8 HG01346.hp2
HG02015.hp2
HG02896.hp1
others(5): Show 
HG01346.hp2
HG02015.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03139.hp2
HG03516.hp1
HG06807.hp2
 intron_variant MODIFIER c.970-21683A>C
c.970-21683A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281295
chr1:2281295 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 6 a0001c0001t0001g0235
a0001c0001t0002g0203
a0001c0001t0004g0325
others(3): Show 
a0001c0001t0001g0235
a0001c0001t0002g0203
a0001c0001t0004g0325
a0001c0001t0006g0065
a0001c0001t0059g0244
a0001c0001t0062g0257
 6 HG01981.hp2
HG02055.hp2
HG02074.hp2
others(3): Show 
HG01981.hp2
HG02055.hp2
HG02074.hp2
HG02280.hp2
HG02622.hp2
NA19088.hp2
 intron_variant MODIFIER c.970-21680_970-2166
others(24): Show 
c.970-21680_970-21661delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281295
chr1:2281295 AGGACGCC
others(57): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0003g0163
a0001c0009t0004g0064
a0001c0001t0003g0163
a0001c0009t0004g0064
 2 HG02027.hp2
NA18998.hp2
HG02027.hp2
NA18998.hp2
 intron_variant MODIFIER c.970-21680_970-2161
others(68): Show 
c.970-21680_970-21617delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281295
chr1:2281296 G
G
 A
A
 27 a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
others(24): Show 
a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0032
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0069g0104
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0084g0112
a0001c0007t0078g0269
 28 HG00438.hp2
HG00544.hp1
HG00609.hp2
others(25): Show 
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG01074.hp2
HG01099.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02615.hp2
HG02809.hp2
HG03490.hp1
HG03834.hp2
HG04184.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18983.hp2
NA19000.hp1
NA19062.hp2
NA19066.hp2
NA19070.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-21682G>A
c.970-21682G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281296
chr1:2281296 G
G
 GA
GA
 14 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
others(11): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0006g0211
a0001c0001t0010g0208
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0050g0309
a0001c0006t0040g0053
 14 HG00642.hp2
HG01081.hp1
HG01975.hp2
others(11): Show 
HG00642.hp2
HG01081.hp1
HG01975.hp2
HG01978.hp2
HG02165.hp2
HG02258.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp1
HG03225.hp2
NA18944.hp2
NA18982.hp2
NA18995.hp2
NA19043.hp1
 intron_variant MODIFIER c.970-21682_970-2168
others(5): Show 
c.970-21682_970-21681insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281296
chr1:2281296 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 2 a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0003g0191
a0001c0001t0008g0107
 2 NA19084.hp1
NA19084.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21681_970-2168
others(27): Show 
c.970-21681_970-21680insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281296
chr1:2281296 G
G
 GGTGGCGG
others(60): Show 
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGA
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.970-21681_970-2168
others(71): Show 
c.970-21681_970-21680insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281296
chr1:2281299 C
C
 A
A
 1 a0001c0001t0002g0077
a0001c0001t0002g0077
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.970-21679C>A
c.970-21679C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281299
chr1:2281299 C
C
 T
T
 21 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
others(18): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0002g0124
a0001c0001t0003g0116
a0001c0001t0003g0197
a0001c0001t0003g0217
a0001c0001t0004g0008
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0006g0211
a0001c0001t0010g0208
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0006t0040g0053
 21 HG00642.hp2
HG01081.hp1
HG01975.hp2
others(18): Show 
HG00642.hp2
HG01081.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03831.hp1
NA18944.hp2
NA18982.hp2
NA18995.hp2
NA19012.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-21679C>T
c.970-21679C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281299
chr1:2281300 G
G
 A
A
 29 a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0094
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0191
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0084g0112
a0001c0007t0078g0269
 30 HG00438.hp2
HG00544.hp1
HG00609.hp2
others(27): Show 
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG01074.hp2
HG01099.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02071.hp1
HG02071.hp2
HG03041.hp2
HG03490.hp1
HG03834.hp2
HG04184.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp2
NA19000.hp1
NA19062.hp2
NA19066.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21678G>A
c.970-21678G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281300
chr1:2281302 C
C
 G
G
 26 a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0032
a0001c0001t0003g0191
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0084g0112
a0001c0007t0078g0269
 27 HG00438.hp2
HG00544.hp1
HG00609.hp2
others(24): Show 
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG01074.hp2
HG01099.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02071.hp1
HG02071.hp2
HG03490.hp1
HG03834.hp2
HG04184.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18983.hp2
NA19000.hp1
NA19062.hp2
NA19066.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21676C>G
c.970-21676C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281302
chr1:2281303 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.970-21658_970-2165
others(47): Show 
c.970-21658_970-21657insTGGAGATCTTCAGAGAGAGGACGCCT
GAGAAGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281303
chr1:2281303 C
C
 CGAGAGGA
others(79): Show 
CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-21671_970-2167
others(90): Show 
c.970-21671_970-21670insGGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281303
chr1:2281303 C
C
 T
T
 42 a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
others(39): Show 
a0001c0001t0001g0001
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0130
a0001c0001t0003g0191
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0115
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0300
a0001c0001t0007g0061
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0018g0147
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0073g0216
a0001c0001t0079g0128
a0001c0001t0084g0112
a0001c0007t0078g0269
a0002c0002t0002g0189
a0002c0015t0002g0185
a0003c0013t0032g0178
 43 HG00099.hp2
HG00323.hp2
HG00438.hp2
others(40): Show 
HG00099.hp2
HG00323.hp2
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02071.hp1
HG02071.hp2
HG02300.hp2
HG03490.hp1
HG03654.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA19000.hp1
NA19002.hp1
NA19062.hp2
NA19066.hp2
NA19070.hp1
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21675C>T
c.970-21675C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281303
chr1:2281308 A
A
 AGACAGGC
others(36): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0002g0084
a0001c0001t0002g0084
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.970-21661_970-2166
others(47): Show 
c.970-21661_970-21660insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281308
chr1:2281308 A
A
 G
G
 8 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
others(5): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0094
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0006g0300
a0001c0001t0010g0092
a0002c0002t0002g0002
 8 HG01074.hp1
HG01258.hp1
HG01346.hp2
others(5): Show 
HG01074.hp1
HG01258.hp1
HG01346.hp2
HG02015.hp2
HG02572.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp2
 intron_variant MODIFIER c.970-21670A>G
c.970-21670A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281308
chr1:2281313 G
G
 T
T
 1 a0001c0001t0007g0086
a0001c0001t0007g0086
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.970-21665G>T
c.970-21665G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281313
chr1:2281315 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0083g0231
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0083g0231
 3 HG01099.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
HG01099.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21663_970-2166
others(27): Show 
c.970-21663_970-21662insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281315
chr1:2281315 C
C
 T
T
 30 a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0166
others(27): Show 
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0166
a0001c0001t0001g0254
a0001c0001t0001g0304
a0001c0001t0002g0320
a0001c0001t0003g0191
a0001c0001t0003g0251
a0001c0001t0004g0220
a0001c0001t0004g0260
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0302
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0239
a0001c0001t0012g0155
a0001c0001t0013g0079
a0001c0001t0019g0249
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0045g0294
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0008t0021g0252
a0002c0002t0002g0189
 30 HG00438.hp2
HG00544.hp2
HG00621.hp2
others(27): Show 
HG00438.hp2
HG00544.hp2
HG00621.hp2
HG01070.hp1
HG01169.hp2
HG01517.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02735.hp1
HG02809.hp1
HG03654.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp2
NA18612.hp1
NA18982.hp1
NA18991.hp2
NA19000.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21663C>T
c.970-21663C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281315
chr1:2281318 T
T
 C
C
 18 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0075
others(15): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0247
a0001c0001t0005g0066
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0092
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0070g0074
a0002c0002t0002g0002
 18 HG00099.hp2
HG00323.hp2
HG00621.hp1
others(15): Show 
HG00099.hp2
HG00323.hp2
HG00621.hp1
HG00735.hp1
HG01258.hp1
HG01346.hp2
HG02015.hp2
HG02074.hp1
HG02572.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp2
HG03139.hp2
HG03516.hp2
HG03579.hp1
HG04199.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-21660T>C
c.970-21660T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281318
chr1:2281318 T
T
 TGGCGGAG
others(489): Show 
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-21639_970-2163
others(500): Show 
c.970-21639_970-21638insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCT
TCATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
AGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA
GAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACA
GGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCG
GCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281318
chr1:2281321 C
C
 T
T
 6 a0001c0001t0003g0022
a0001c0001t0003g0224
a0001c0001t0004g0218
others(3): Show 
a0001c0001t0003g0022
a0001c0001t0003g0224
a0001c0001t0004g0218
a0001c0001t0005g0153
a0001c0001t0008g0041
a0001c0001t0015g0136
 6 HG00733.hp2
HG01109.hp1
HG04184.hp1
others(3): Show 
HG00733.hp2
HG01109.hp1
HG04184.hp1
HG04204.hp1
NA18977.hp2
NA18979.hp1
 intron_variant MODIFIER c.970-21657C>T
c.970-21657C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281321
chr1:2281324 A
A
 C
C
 10 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0075
others(7): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0017g0068
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
 10 HG00099.hp2
HG00323.hp2
HG00735.hp1
others(7): Show 
HG00099.hp2
HG00323.hp2
HG00735.hp1
HG02572.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03516.hp1
HG03579.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21654A>C
c.970-21654A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281324
chr1:2281333 G
G
 GAGAGCGG
others(206): Show 
GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT
GAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
CGGCGGAGATCTTC
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.970-21641_970-2164
others(217): Show 
c.970-21641_970-21640insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281333
chr1:2281333 G
G
 T
T
 5 a0001c0001t0002g0081
a0001c0001t0002g0129
a0001c0001t0004g0115
others(2): Show 
a0001c0001t0002g0081
a0001c0001t0002g0129
a0001c0001t0004g0115
a0001c0001t0006g0300
a0003c0013t0032g0178
 5 HG01074.hp1
HG03654.hp2
NA18971.hp2
others(2): Show 
HG01074.hp1
HG03654.hp2
NA18971.hp2
NA18980.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21645G>T
c.970-21645G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281333
chr1:2281338 A
A
 C
C
 1 a0001c0001t0010g0092
a0001c0001t0010g0092
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.970-21640A>C
c.970-21640A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281338
chr1:2281338 AG
AG
 A
A
 33 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0283
a0001c0001t0002g0036
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0204
a0001c0001t0003g0270
a0001c0001t0004g0325
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0009g0307
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0079g0128
a0001c0001t0083g0231
a0001c0007t0078g0269
 34 HG00280.hp1
HG00544.hp1
HG00609.hp2
others(31): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02155.hp1
HG02280.hp2
HG02622.hp2
HG02698.hp1
HG03098.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18961.hp1
NA18971.hp1
NA18983.hp2
NA19066.hp2
NA19070.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21639delG
c.970-21639delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281338
chr1:2281338 AGAGATGC
others(14): Show 
AGAGATGCCCGAGAAGACAGGC
 A
A
 4 a0001c0001t0002g0081
a0001c0001t0006g0300
a0001c0001t0064g0311
others(1): Show 
a0001c0001t0002g0081
a0001c0001t0006g0300
a0001c0001t0064g0311
a0003c0013t0032g0178
 4 HG01074.hp1
HG03654.hp2
HG03704.hp1
others(1): Show 
HG01074.hp1
HG03654.hp2
HG03704.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21638_970-2161
others(25): Show 
c.970-21638_970-21618delAGATGCCCGAGAAGACAGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281338
chr1:2281338 AGAGATGC
others(573): Show 
AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGG
TGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0004g0115
a0001c0001t0004g0115
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-21638_970-2105
others(4): Show 
c.970-21638_970-21059del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281338
chr1:2281339 G
G
 GGACGCCC
others(58): Show 
GGACGCCCGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGA
 3 a0001c0001t0002g0027
a0001c0001t0004g0230
a0001c0001t0014g0229
a0001c0001t0002g0027
a0001c0001t0004g0230
a0001c0001t0014g0229
 3 HG00099.hp1
HG02109.hp1
NA19065.hp1
HG00099.hp1
HG02109.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-21639_970-2163
others(69): Show 
c.970-21639_970-21638insGACGCCCGAGAAGACAGGCAGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281339
chr1:2281339 G
G
 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-21639_970-2163
others(46): Show 
c.970-21639_970-21638insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281339
chr1:2281339 G
G
 GGACGCCC
others(101): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACACC
TGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGA
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-21639_970-2163
others(112): Show 
c.970-21639_970-21638insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCT
TCATAGAGAGGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281339
chr1:2281339 G
G
 GGTGGCGG
others(15): Show 
GGTGGCGGAGATCTTCAGAGAGA
 5 a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0141
others(2): Show 
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0002g0124
 5 HG01081.hp1
HG01975.hp2
HG01978.hp2
others(2): Show 
HG01081.hp1
HG01975.hp2
HG01978.hp2
HG02165.hp2
HG02723.hp1
 intron_variant MODIFIER c.970-21639_970-2163
others(26): Show 
c.970-21639_970-21638insGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281339
chr1:2281339 GA
GA
 G
G
 172 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0121
others(169): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0038
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0199
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 172 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(169): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01981.hp1
HG01993.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21638delA
c.970-21638delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281339
chr1:2281340 A
A
 AG
AG
 6 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0003g0117
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0003g0117
a0001c0001t0007g0162
a0001c0001t0023g0139
a0002c0002t0002g0002
 6 HG01256.hp1
HG02300.hp2
HG03710.hp2
others(3): Show 
HG01256.hp1
HG02300.hp2
HG03710.hp2
HG03927.hp1
NA18944.hp2
NA19081.hp1
 intron_variant MODIFIER c.970-21637dupG
c.970-21637dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281340
chr1:2281340 A
A
 G
G
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-21638A>G
c.970-21638A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281340
chr1:2281343 T
T
 A
A
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21635T>A
c.970-21635T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281343
chr1:2281343 T
T
 C
C
 203 a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0018
others(200): Show 
a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0093
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0199
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 205 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(202): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21635T>C
c.970-21635T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281343
chr1:2281343 T
T
 TGCCCGAG
others(338): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 2 a0001c0001t0001g0004
a0001c0001t0007g0004
a0001c0001t0001g0004
a0001c0001t0007g0004
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.970-21595_970-2159
others(349): Show 
c.970-21595_970-21594insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281343
chr1:2281343 T
T
 TGCCCGAG
others(102): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAG
ATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCA
GAGAGAGGAC
 1 a0001c0001t0008g0196
a0001c0001t0008g0196
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.970-21594_970-2159
others(113): Show 
c.970-21594_970-21593insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281343
chr1:2281343 TGCCCGAG
others(36): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 T
T
 1 a0001c0001t0014g0144
a0001c0001t0014g0144
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.970-21592_970-2155
others(47): Show 
c.970-21592_970-21550delCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281343
chr1:2281344 G
G
 A
A
 48 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
others(45): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0283
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0204
a0001c0001t0003g0270
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0009g0307
a0001c0001t0019g0233
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0065g0312
a0001c0001t0071g0024
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0003t0020g0015
a0001c0007t0078g0269
 49 HG00280.hp1
HG00544.hp1
HG00609.hp2
others(46): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01169.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02071.hp1
HG02074.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp1
HG02818.hp1
HG03098.hp1
HG03942.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18961.hp1
NA18971.hp1
NA18983.hp2
NA18998.hp1
NA19057.hp1
NA19066.hp2
NA19070.hp1
NA19079.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21634G>A
c.970-21634G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281344
chr1:2281345 C
C
 T
T
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-21633C>T
c.970-21633C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281345
chr1:2281346 C
C
 G
G
 34 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
others(31): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0283
a0001c0001t0002g0036
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0204
a0001c0001t0003g0270
a0001c0001t0004g0325
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0009g0307
a0001c0001t0031g0321
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0079g0128
a0001c0007t0078g0269
 35 HG00280.hp1
HG00544.hp1
HG00609.hp2
others(32): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01169.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02071.hp1
HG02074.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp1
HG03098.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18961.hp1
NA18971.hp1
NA18983.hp2
NA19066.hp2
NA19070.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21632C>G
c.970-21632C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281346
chr1:2281347 C
C
 CGAGAAGA
others(103): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGT
 1 a0001c0001t0044g0292
a0001c0001t0044g0292
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.970-21595_970-2159
others(114): Show 
c.970-21595_970-21594insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281347
chr1:2281347 C
C
 T
T
 52 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
others(49): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0283
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0204
a0001c0001t0003g0270
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0065
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0009g0307
a0001c0001t0012g0160
a0001c0001t0019g0233
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0065g0312
a0001c0001t0071g0024
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0003t0020g0015
a0001c0007t0078g0269
 53 HG00280.hp1
HG00544.hp1
HG00609.hp2
others(50): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01169.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02071.hp1
HG02074.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02622.hp2
HG02647.hp1
HG02698.hp1
HG02723.hp1
HG02818.hp1
HG03098.hp1
HG03942.hp2
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18961.hp1
NA18967.hp2
NA18971.hp1
NA18983.hp2
NA18998.hp1
NA19057.hp1
NA19066.hp2
NA19070.hp1
NA19079.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21631C>T
c.970-21631C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281347
chr1:2281348 G
G
 A
A
 1 a0001c0001t0006g0284
a0001c0001t0006g0284
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.970-21630G>A
c.970-21630G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281348
chr1:2281352 A
A
 G
G
 8 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0247
others(5): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0247
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0070g0074
a0001c0001t0085g0263
 8 HG00280.hp2
HG02015.hp2
HG02572.hp1
others(5): Show 
HG00280.hp2
HG02015.hp2
HG02572.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-21626A>G
c.970-21626A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281352
chr1:2281352 AGACAGGC
others(208): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAG
AGAGGACGCCCGAGAG
 A
A
 1 a0001c0001t0031g0321
a0001c0001t0031g0321
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.970-21454_970-2124
others(4): Show 
c.970-21454_970-21240del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281352
chr1:2281359 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0005g0089
a0001c0001t0035g0261
a0001c0003t0020g0015
a0001c0001t0005g0089
a0001c0001t0035g0261
a0001c0003t0020g0015
 3 HG01361.hp1
HG01891.hp1
HG02818.hp1
HG01361.hp1
HG01891.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-21619_970-2161
others(27): Show 
c.970-21619_970-21618insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281359
chr1:2281359 C
C
 CGGTGGCG
others(38): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0018g0149
a0001c0001t0018g0149
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-21595_970-2159
others(49): Show 
c.970-21595_970-21594insAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281359
chr1:2281359 C
C
 CGGTGGCG
others(36): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGT
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-21589_970-2158
others(47): Show 
c.970-21589_970-21588insTGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281359
chr1:2281359 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.970-21594_970-2159
others(70): Show 
c.970-21594_970-21593insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281359
chr1:2281359 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-21602_970-2160
others(27): Show 
c.970-21602_970-21601insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281359
chr1:2281359 C
C
 T
T
 16 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0141
others(13): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0003g0204
a0001c0001t0003g0246
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0007g0162
a0001c0001t0009g0296
a0001c0001t0084g0112
 16 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(13): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01346.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG03490.hp1
HG04184.hp2
NA18944.hp2
NA18947.hp1
NA18971.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21619C>T
c.970-21619C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281359
chr1:2281362 T
T
 C
C
 22 a0001c0001t0001g0010
a0001c0001t0002g0075
a0001c0001t0002g0076
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0105
a0001c0001t0002g0123
a0001c0001t0005g0066
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0068g0145
a0001c0001t0070g0074
a0001c0003t0020g0014
 22 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(19): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01257.hp2
HG01346.hp2
HG02145.hp2
HG02572.hp1
HG02630.hp2
HG02896.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG04199.hp1
NA18956.hp1
NA19030.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21616T>C
c.970-21616T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281362
chr1:2281365 C
C
 T
T
 17 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0255
others(14): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0255
a0001c0001t0002g0038
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0006g0131
a0001c0001t0015g0136
a0001c0001t0019g0233
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0085g0263
a0001c0001t0088g0120
a0002c0004t0001g0188
 17 HG00280.hp2
HG00738.hp1
HG00741.hp1
others(14): Show 
HG00280.hp2
HG00738.hp1
HG00741.hp1
HG01993.hp1
HG02015.hp2
HG02071.hp2
HG02300.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21613C>T
c.970-21613C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281365
chr1:2281368 A
A
 C
C
 21 a0001c0001t0001g0010
a0001c0001t0002g0075
a0001c0001t0002g0076
others(18): Show 
a0001c0001t0001g0010
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0123
a0001c0001t0005g0066
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0068g0145
a0001c0001t0070g0074
a0001c0003t0020g0014
 21 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(18): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00735.hp1
HG00735.hp2
HG01257.hp2
HG01346.hp2
HG02145.hp2
HG02559.hp2
HG02572.hp1
HG02630.hp2
HG02896.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG04199.hp1
NA18956.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-21610A>C
c.970-21610A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281368
chr1:2281375 C
C
 CAG
CAG
 5 a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0166
others(2): Show 
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0006g0131
a0001c0001t0023g0139
 5 HG02071.hp2
HG03710.hp2
HG03831.hp2
others(2): Show 
HG02071.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
NA19070.hp2
 intron_variant MODIFIER c.970-21596_970-2159
others(6): Show 
c.970-21596_970-21595dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281375
chr1:2281377 G
G
 T
T
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.970-21601G>T
c.970-21601G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281377
chr1:2281382 A
A
 C
C
 2 a0001c0001t0002g0129
a0001c0001t0010g0092
a0001c0001t0002g0129
a0001c0001t0010g0092
 2 HG02572.hp1
NA18971.hp2
HG02572.hp1
NA18971.hp2
 intron_variant MODIFIER c.970-21596A>C
c.970-21596A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281382
chr1:2281382 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0003g0158
a0001c0001t0005g0161
a0001c0001t0003g0158
a0001c0001t0005g0161
 2 HG01952.hp2
HG01993.hp2
HG01952.hp2
HG01993.hp2
 intron_variant MODIFIER c.970-21593_970-2157
others(24): Show 
c.970-21593_970-21574delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281382
chr1:2281382 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGC
 A
A
 1 a0001c0001t0012g0194
a0001c0001t0012g0194
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-21593_970-2153
others(67): Show 
c.970-21593_970-21531delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281382
chr1:2281382 AGGACGCC
others(99): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGC
 A
A
 1 a0001c0001t0054g0159
a0001c0001t0054g0159
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.970-21593_970-2148
others(4): Show 
c.970-21593_970-21488del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281382
chr1:2281383 G
G
 A
A
 14 a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0032
others(11): Show 
a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0032
a0001c0001t0003g0163
a0001c0001t0003g0270
a0001c0001t0005g0198
a0001c0001t0006g0300
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0079g0128
a0001c0003t0020g0015
a0001c0007t0078g0269
a0001c0009t0004g0064
a0003c0013t0032g0178
 14 HG00544.hp1
HG00609.hp2
HG01074.hp1
others(11): Show 
HG00544.hp1
HG00609.hp2
HG01074.hp1
HG01257.hp1
HG01891.hp1
HG02027.hp2
HG02559.hp1
HG03654.hp2
HG03704.hp1
NA18946.hp1
NA18950.hp2
NA18998.hp2
NA19070.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21595G>A
c.970-21595G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281383
chr1:2281383 G
G
 GA
GA
 27 a0001c0001t0001g0132
a0001c0001t0001g0304
a0001c0001t0002g0094
others(24): Show 
a0001c0001t0001g0132
a0001c0001t0001g0304
a0001c0001t0002g0094
a0001c0001t0002g0256
a0001c0001t0002g0320
a0001c0001t0003g0022
a0001c0001t0003g0127
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0274
a0001c0001t0004g0009
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0008g0111
a0001c0001t0012g0258
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0022g0303
a0001c0001t0026g0050
a0001c0001t0042g0319
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0003t0009g0173
 27 HG00423.hp1
HG00438.hp2
HG00738.hp1
others(24): Show 
HG00423.hp1
HG00438.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02717.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
NA18906.hp2
NA18954.hp1
NA18962.hp1
NA18962.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA19002.hp2
NA19012.hp2
NA19030.hp2
NA19068.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-21595_970-2159
others(5): Show 
c.970-21595_970-21594insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281383
chr1:2281383 G
G
 GGACACCT
others(59): Show 
GGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-21592_970-2159
others(70): Show 
c.970-21592_970-21591insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281383
chr1:2281383 GGACGCCC
others(250): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGA
 G
G
 1 a0001c0001t0028g0055
a0001c0001t0028g0055
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21593_970-2133
others(4): Show 
c.970-21593_970-21337del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281383
chr1:2281386 C
C
 A
A
 8 a0001c0001t0001g0010
a0001c0001t0002g0123
a0001c0001t0005g0066
others(5): Show 
a0001c0001t0001g0010
a0001c0001t0002g0123
a0001c0001t0005g0066
a0001c0001t0006g0142
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0068g0145
 8 HG00423.hp2
HG00735.hp2
HG01257.hp2
others(5): Show 
HG00423.hp2
HG00735.hp2
HG01257.hp2
HG01346.hp2
HG02145.hp2
HG02896.hp2
HG03669.hp2
NA18956.hp1
 intron_variant MODIFIER c.970-21592C>A
c.970-21592C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281386
chr1:2281386 C
C
 T
T
 36 a0001c0001t0001g0132
a0001c0001t0001g0255
a0001c0001t0001g0304
others(33): Show 
a0001c0001t0001g0132
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0002g0094
a0001c0001t0002g0256
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0022
a0001c0001t0003g0127
a0001c0001t0003g0213
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0274
a0001c0001t0004g0009
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0008g0111
a0001c0001t0011g0265
a0001c0001t0012g0258
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0026g0050
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0003t0009g0173
 36 HG00423.hp1
HG00438.hp2
HG00738.hp1
others(33): Show 
HG00423.hp1
HG00438.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01993.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03704.hp2
HG03834.hp1
NA18906.hp2
NA18954.hp1
NA18962.hp1
NA18962.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA19002.hp2
NA19012.hp2
NA19030.hp2
NA19068.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-21592C>T
c.970-21592C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281386
chr1:2281387 G
G
 A
A
 17 a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0031
others(14): Show 
a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0163
a0001c0001t0003g0270
a0001c0001t0005g0198
a0001c0001t0006g0300
a0001c0001t0008g0041
a0001c0001t0010g0092
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0070g0074
a0001c0001t0079g0128
a0001c0007t0078g0269
a0001c0009t0004g0064
a0003c0013t0032g0178
 17 HG00544.hp1
HG00609.hp2
HG01074.hp1
others(14): Show 
HG00544.hp1
HG00609.hp2
HG01074.hp1
HG01257.hp1
HG02027.hp2
HG02559.hp1
HG02572.hp1
HG03139.hp2
HG03654.hp2
HG03704.hp1
NA18946.hp1
NA18950.hp2
NA18959.hp2
NA18979.hp1
NA18998.hp2
NA19070.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21591G>A
c.970-21591G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281387
chr1:2281388 C
C
 T
T
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21590C>T
c.970-21590C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281388
chr1:2281389 C
C
 G
G
 13 a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0032
others(10): Show 
a0001c0001t0002g0081
a0001c0001t0002g0154
a0001c0001t0003g0032
a0001c0001t0003g0163
a0001c0001t0003g0270
a0001c0001t0005g0198
a0001c0001t0006g0300
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0079g0128
a0001c0007t0078g0269
a0001c0009t0004g0064
a0003c0013t0032g0178
 13 HG00544.hp1
HG00609.hp2
HG01074.hp1
others(10): Show 
HG00544.hp1
HG00609.hp2
HG01074.hp1
HG01257.hp1
HG02027.hp2
HG02559.hp1
HG03654.hp2
HG03704.hp1
NA18946.hp1
NA18950.hp2
NA18998.hp2
NA19070.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21589C>G
c.970-21589C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281389
chr1:2281390 C
C
 CGAGAAGA
others(231): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0077
a0001c0001t0002g0077
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.970-21574_970-2157
others(242): Show 
c.970-21574_970-21573insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281390
chr1:2281390 C
C
 CGAGAAGA
others(489): Show 
CGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0070g0074
a0001c0001t0070g0074
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-21568_970-2156
others(500): Show 
c.970-21568_970-21567insCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGCGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG
GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
GAGAAGACAGGCGGTGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281390
chr1:2281390 C
C
 T
T
 23 a0001c0001t0001g0165
a0001c0001t0001g0313
a0001c0001t0001g0314
others(20): Show 
a0001c0001t0001g0165
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0154
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0163
a0001c0001t0003g0270
a0001c0001t0005g0198
a0001c0001t0006g0300
a0001c0001t0008g0041
a0001c0001t0010g0164
a0001c0001t0013g0069
a0001c0001t0058g0297
a0001c0001t0064g0311
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0007t0078g0269
a0001c0009t0004g0064
a0002c0002t0002g0002
a0003c0013t0032g0178
 24 HG00544.hp1
HG00609.hp2
HG01070.hp2
others(21): Show 
HG00544.hp1
HG00609.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG02027.hp2
HG02074.hp1
HG02559.hp1
HG02896.hp1
HG02897.hp2
HG03654.hp2
HG03704.hp1
NA18946.hp1
NA18950.hp2
NA18959.hp2
NA18979.hp1
NA18982.hp1
NA18998.hp2
NA19011.hp2
NA19070.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21588C>T
c.970-21588C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281390
chr1:2281395 A
A
 G
G
 8 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0003g0224
others(5): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0003g0224
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0011g0265
a0001c0001t0021g0316
a0001c0001t0072g0200
 8 HG01109.hp1
HG02055.hp1
HG02572.hp1
others(5): Show 
HG01109.hp1
HG02055.hp1
HG02572.hp1
HG02630.hp2
HG02717.hp1
HG02896.hp1
HG02897.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-21583A>G
c.970-21583A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281395
chr1:2281395 AGACAGGC
others(165): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCATAGAGAGGACGCCCGAGAG
 A
A
 4 a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0318
others(1): Show 
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0318
a0001c0001t0006g0324
 4 HG00544.hp1
HG01169.hp2
HG03834.hp1
others(1): Show 
HG00544.hp1
HG01169.hp2
HG03834.hp1
NA18971.hp2
 intron_variant MODIFIER c.970-21549_970-2137
others(4): Show 
c.970-21549_970-21378del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281395
chr1:2281400 G
G
 T
T
 1 a0001c0001t0003g0204
a0001c0001t0003g0204
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.970-21578G>T
c.970-21578G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281400
chr1:2281402 C
C
 CGGTGGCG
others(124): Show 
CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-21553_970-2155
others(135): Show 
c.970-21553_970-21552insAGACACGTGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG
AGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281402
chr1:2281402 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGCGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.970-21551_970-2155
others(70): Show 
c.970-21551_970-21550insTGGCGGCGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281402
chr1:2281402 C
C
 T
T
 18 a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0166
others(15): Show 
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0285
a0001c0001t0003g0130
a0001c0001t0003g0163
a0001c0001t0007g0061
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0015g0136
a0001c0001t0023g0139
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0009t0004g0064
a0002c0002t0002g0189
 18 HG00621.hp1
HG01978.hp1
HG02027.hp2
others(15): Show 
HG00621.hp1
HG01978.hp1
HG02027.hp2
HG02630.hp1
HG03098.hp1
HG03453.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp1
NA18967.hp2
NA18998.hp2
NA19070.hp2
NA19088.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21576C>T
c.970-21576C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281402
chr1:2281403 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-21575G>A
c.970-21575G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281403
chr1:2281405 T
T
 C
C
 25 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0002g0075
others(22): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0002g0123
a0001c0001t0003g0204
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0010g0092
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0068g0145
a0001c0001t0075g0023
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 25 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(22): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01243.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG02145.hp2
HG02572.hp1
HG02647.hp2
HG02896.hp2
HG03017.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG04115.hp1
HG04199.hp1
NA18956.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-21573T>C
c.970-21573T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281405
chr1:2281408 C
C
 T
T
 6 a0001c0001t0003g0031
a0001c0001t0004g0248
a0001c0001t0005g0153
others(3): Show 
a0001c0001t0003g0031
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0013g0079
a0001c0001t0021g0316
a0001c0001t0072g0200
 6 HG00733.hp2
HG02004.hp1
HG02273.hp1
others(3): Show 
HG00733.hp2
HG02004.hp1
HG02273.hp1
HG02717.hp1
NA18959.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-21570C>T
c.970-21570C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281408
chr1:2281411 A
A
 C
C
 23 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0002g0075
others(20): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0003g0204
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0013g0176
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0068g0145
a0001c0001t0075g0023
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 23 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(20): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01243.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG02145.hp2
HG02647.hp2
HG02896.hp2
HG03017.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG04115.hp1
HG04199.hp1
NA18956.hp1
 intron_variant MODIFIER c.970-21567A>C
c.970-21567A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281411
chr1:2281418 C
C
 CAG
CAG
 12 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
others(9): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0006g0131
a0001c0001t0010g0164
a0001c0001t0023g0139
 12 HG01975.hp2
HG01978.hp2
HG02015.hp1
others(9): Show 
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02165.hp2
HG03710.hp2
HG03927.hp1
NA18944.hp2
NA18990.hp2
NA19000.hp2
NA19011.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21553_970-2155
others(6): Show 
c.970-21553_970-21552dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281418
chr1:2281420 G
G
 T
T
 3 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0085g0263
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0085g0263
 3 HG00280.hp2
HG02896.hp1
HG02897.hp2
HG00280.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.970-21558G>T
c.970-21558G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281420
chr1:2281420 GAGAGAGG
others(122): Show 
GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
GAGAGGACAGGCGGTGGTGGAGATCTTCAT
 G
G
 5 a0001c0001t0003g0224
a0001c0001t0004g0220
a0001c0001t0007g0281
others(2): Show 
a0001c0001t0003g0224
a0001c0001t0004g0220
a0001c0001t0007g0281
a0001c0001t0057g0288
a0001c0001t0087g0168
 5 HG01109.hp1
HG01517.hp1
HG02976.hp1
others(2): Show 
HG01109.hp1
HG01517.hp1
HG02976.hp1
NA18947.hp2
NA19066.hp2
 intron_variant MODIFIER c.970-21549_970-2142
others(4): Show 
c.970-21549_970-21421del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281420
chr1:2281420 GAGAGAGG
others(163): Show 
GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA
CAGGCGGTGGCGGAGATCTTC
 G
G
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.970-21551_970-2138
others(4): Show 
c.970-21551_970-21382del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281420
chr1:2281425 A
A
 AGGACACC
others(231): Show 
AGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAA
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-21550_970-2154
others(242): Show 
c.970-21550_970-21549insCACCTGAGAAGACAGGCAGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281425
chr1:2281425 A
A
 C
C
 6 a0001c0001t0003g0130
a0001c0001t0010g0047
a0002c0002t0002g0184
others(3): Show 
a0001c0001t0003g0130
a0001c0001t0010g0047
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
 6 HG00621.hp1
HG01243.hp1
HG02486.hp2
others(3): Show 
HG00621.hp1
HG01243.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
NA18967.hp2
 intron_variant MODIFIER c.970-21553A>C
c.970-21553A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281425
chr1:2281425 AGGATGCC
others(13): Show 
AGGATGCCCGAGAAGACAGGC
 A
A
 5 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0007g0108
others(2): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0007g0108
a0001c0001t0009g0103
a0001c0001t0056g0315
 5 HG02145.hp1
HG02717.hp2
HG02896.hp1
others(2): Show 
HG02145.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03654.hp1
 intron_variant MODIFIER c.970-21550_970-2153
others(24): Show 
c.970-21550_970-21531delATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281425
chr1:2281425 AGGATGCC
others(56): Show 
AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGC
 A
A
 1 a0001c0001t0074g0192
a0001c0001t0074g0192
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.970-21550_970-2148
others(67): Show 
c.970-21550_970-21488delATGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281425
chr1:2281426 G
G
 A
A
 15 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(12): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0254
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0158
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0225
 15 HG01361.hp2
HG01952.hp2
HG01975.hp1
others(12): Show 
HG01361.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21552G>A
c.970-21552G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281426
chr1:2281426 G
G
 GA
GA
 67 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0026
others(64): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0242
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0039
a0001c0001t0003g0209
a0001c0001t0003g0217
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0289
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0004
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0308
a0001c0001t0010g0096
a0001c0001t0012g0155
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0003t0020g0014
a0001c0008t0021g0252
a0002c0002t0055g0183
 68 HG00099.hp1
HG00280.hp2
HG00438.hp2
others(65): Show 
HG00099.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG01070.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03831.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp1
NA18991.hp2
NA18998.hp1
NA19057.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21552_970-2155
others(5): Show 
c.970-21552_970-21551insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281426
chr1:2281426 G
G
 GGACGCCC
others(59): Show 
GGACGCCCGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 3 a0001c0001t0002g0036
a0001c0001t0002g0222
a0001c0001t0005g0221
a0001c0001t0002g0036
a0001c0001t0002g0222
a0001c0001t0005g0221
 3 HG00280.hp1
HG01123.hp1
HG02155.hp1
HG00280.hp1
HG01123.hp1
HG02155.hp1
 intron_variant MODIFIER c.970-21550_970-2154
others(70): Show 
c.970-21550_970-21549insCGCCCGAGAAGACAGGCAGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281426 G
G
 GGACGCCC
others(37): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0005g0253
a0001c0001t0005g0253
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.970-21550_970-2154
others(48): Show 
c.970-21550_970-21549insCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281426 G
G
 GGACGCCC
others(79): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-21550_970-2154
others(90): Show 
c.970-21550_970-21549insCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGAAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281426 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 6 a0001c0001t0002g0102
a0001c0001t0002g0301
a0001c0001t0005g0157
others(3): Show 
a0001c0001t0002g0102
a0001c0001t0002g0301
a0001c0001t0005g0157
a0001c0001t0007g0098
a0001c0001t0009g0100
a0001c0001t0069g0104
 6 HG01884.hp1
HG02273.hp2
HG02615.hp2
others(3): Show 
HG01884.hp1
HG02273.hp2
HG02615.hp2
HG02809.hp2
HG04184.hp2
NA19240.hp1
 intron_variant MODIFIER c.970-21551_970-2155
others(27): Show 
c.970-21551_970-21550insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281426 GGATGCCC
others(293): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
A
 G
G
 1 a0001c0001t0006g0150
a0001c0001t0006g0150
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.970-21550_970-2125
others(4): Show 
c.970-21550_970-21251del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281426 GGATGCCC
others(336): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0019g0249
a0001c0001t0019g0249
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-21550_970-2120
others(4): Show 
c.970-21550_970-21208del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281426
chr1:2281429 T
T
 A
A
 9 a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
others(6): Show 
a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0003g0204
a0001c0001t0005g0089
a0001c0001t0007g0086
a0001c0001t0014g0144
a0001c0001t0047g0293
a0001c0001t0049g0087
 9 HG00099.hp2
HG00323.hp2
HG00735.hp1
others(6): Show 
HG00099.hp2
HG00323.hp2
HG00735.hp1
HG01346.hp1
HG01361.hp1
HG03017.hp1
HG03579.hp1
HG04115.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21549T>A
c.970-21549T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281429
chr1:2281429 T
T
 C
C
 181 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(178): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0037
a0001c0001t0004g0090
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0160
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0026g0295
a0001c0001t0030g0054
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 182 HG00280.hp1
HG00423.hp2
HG00438.hp1
others(179): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21549T>C
c.970-21549T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281429
chr1:2281429 T
T
 CGCCCGAG
others(123): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0033g0073
a0001c0001t0033g0073
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.970-21550_970-2154
others(134): Show 
c.970-21550_970-21549insCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281429
chr1:2281430 G
G
 A
A
 20 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(17): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0254
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0158
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0260
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0003t0001g0172
a0001c0003t0001g0175
 20 HG01361.hp2
HG01952.hp2
HG01975.hp1
others(17): Show 
HG01361.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02273.hp2
HG02886.hp1
HG03471.hp1
HG04184.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21548G>A
c.970-21548G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281430
chr1:2281432 C
C
 G
G
 17 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(14): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0254
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0158
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0225
 17 HG01361.hp2
HG01952.hp2
HG01975.hp1
others(14): Show 
HG01361.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02273.hp2
HG04184.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21546C>G
c.970-21546C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281432
chr1:2281433 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0004g0114
a0001c0001t0004g0114
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-21508_970-2150
others(70): Show 
c.970-21508_970-21507insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281433
chr1:2281433 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-21528_970-2152
others(47): Show 
c.970-21528_970-21527insTGGAGATCTTCAGAGAGAGGACGCCT
GAGAAGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281433
chr1:2281433 C
C
 T
T
 28 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
others(25): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0260
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0007g0061
a0001c0001t0010g0048
a0001c0001t0021g0316
a0001c0001t0072g0200
a0001c0003t0001g0172
a0001c0003t0001g0175
 28 HG01361.hp2
HG01952.hp2
HG01975.hp1
others(25): Show 
HG01361.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp2
HG02074.hp1
HG02273.hp2
HG02717.hp1
HG02886.hp1
HG03130.hp2
HG03471.hp1
HG04184.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18962.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp1
NA19082.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21545C>T
c.970-21545C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281433
chr1:2281438 A
A
 AGACAGGC
others(231): Show 
AGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA
GAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACA
GGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0008g0042
a0001c0001t0008g0042
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.970-21533_970-2153
others(242): Show 
c.970-21533_970-21532insAGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGCGGCGGCG
ATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCA
GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG
GACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCC
GAGAGGACAGGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281438
chr1:2281438 A
A
 G
G
 10 a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0021g0316
others(7): Show 
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0021g0316
a0001c0001t0067g0097
a0001c0001t0079g0128
a0001c0006t0040g0053
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
 10 HG01243.hp1
HG02486.hp2
HG02647.hp2
others(7): Show 
HG01243.hp1
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02886.hp2
HG03225.hp2
HG03540.hp1
NA18950.hp2
NA18967.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-21540A>G
c.970-21540A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281438
chr1:2281438 AGACAGGC
others(122): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCATAGAGAGGACGCCCGAGAG
 A
A
 7 a0001c0001t0001g0283
a0001c0001t0003g0032
a0001c0001t0006g0065
others(4): Show 
a0001c0001t0001g0283
a0001c0001t0003g0032
a0001c0001t0006g0065
a0001c0001t0006g0300
a0001c0001t0008g0210
a0001c0001t0027g0245
a0001c0001t0059g0244
 7 HG01074.hp1
HG02074.hp2
NA18950.hp1
others(4): Show 
HG01074.hp1
HG02074.hp2
NA18950.hp1
NA18961.hp1
NA19070.hp1
NA19074.hp2
NA19088.hp2
 intron_variant MODIFIER c.970-21497_970-2136
others(4): Show 
c.970-21497_970-21369del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281438
chr1:2281443 G
G
 T
T
 7 a0001c0001t0002g0123
a0001c0001t0006g0142
a0001c0001t0013g0176
others(4): Show 
a0001c0001t0002g0123
a0001c0001t0006g0142
a0001c0001t0013g0176
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0068g0145
a0001c0001t0075g0023
 7 HG00423.hp2
HG00438.hp1
HG00735.hp2
others(4): Show 
HG00423.hp2
HG00438.hp1
HG00735.hp2
HG02145.hp2
HG02896.hp2
HG03516.hp2
HG03669.hp2
 intron_variant MODIFIER c.970-21535G>T
c.970-21535G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281443
chr1:2281445 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0002g0049
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0002g0049
 3 HG02165.hp1
HG02698.hp1
NA19091.hp1
HG02165.hp1
HG02698.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-21533_970-2153
others(27): Show 
c.970-21533_970-21532insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281445
chr1:2281445 C
C
 CGGCGGCG
others(641): Show 
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGG
TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC
AGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGC
GGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-21531_970-2153
others(652): Show 
c.970-21531_970-21530insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAGGACAGGCGGCGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
GGACGCCCGAGAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281445
chr1:2281445 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0015g0126
a0001c0001t0015g0126
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.970-21509_970-2150
others(114): Show 
c.970-21509_970-21508insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281445
chr1:2281445 C
C
 CGGTGGCG
others(38): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 3 a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0005t0003g0137
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0005t0003g0137
 3 HG03688.hp1
NA19067.hp1
NA19080.hp2
HG03688.hp1
NA19067.hp1
NA19080.hp2
 intron_variant MODIFIER c.970-21509_970-2150
others(49): Show 
c.970-21509_970-21508insAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281445
chr1:2281445 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0008t0021g0252
a0001c0008t0021g0252
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.970-21508_970-2150
others(70): Show 
c.970-21508_970-21507insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281445
chr1:2281445 C
C
 T
T
 9 a0001c0001t0001g0016
a0001c0001t0003g0158
a0001c0001t0004g0025
others(6): Show 
a0001c0001t0001g0016
a0001c0001t0003g0158
a0001c0001t0004g0025
a0001c0001t0004g0219
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0131
a0001c0001t0006g0226
a0001c0001t0065g0312
 9 HG01952.hp2
HG01993.hp2
HG02071.hp2
others(6): Show 
HG01952.hp2
HG01993.hp2
HG02071.hp2
HG02273.hp2
HG02738.hp2
HG03831.hp1
HG03942.hp2
NA18944.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21533C>T
c.970-21533C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281445
chr1:2281446 G
G
 A
A
 4 a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0003t0001g0172
others(1): Show 
a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0003t0001g0172
a0001c0003t0001g0175
 4 HG01928.hp1
HG02886.hp1
HG03471.hp1
others(1): Show 
HG01928.hp1
HG02886.hp1
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21532G>A
c.970-21532G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281446
chr1:2281448 T
T
 C
C
 46 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
others(43): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0204
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0008g0042
a0001c0001t0008g0196
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0006t0040g0053
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
a0002c0015t0002g0185
 46 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(43): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp2
HG01243.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp1
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp2
HG02280.hp2
HG02486.hp2
HG02647.hp2
HG02735.hp2
HG02896.hp2
HG03017.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp1
NA18956.hp1
NA18959.hp1
NA18967.hp2
NA18971.hp1
NA18982.hp1
NA18983.hp2
NA19063.hp2
NA19065.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21530T>C
c.970-21530T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281448
chr1:2281451 C
C
 CGGAGATC
others(145): Show 
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGT
GGT
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-21508_970-2150
others(156): Show 
c.970-21508_970-21507insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281451
chr1:2281451 C
C
 T
T
 2 a0001c0001t0001g0271
a0001c0001t0015g0136
a0001c0001t0001g0271
a0001c0001t0015g0136
 2 HG03130.hp2
HG04204.hp1
HG03130.hp2
HG04204.hp1
 intron_variant MODIFIER c.970-21527C>T
c.970-21527C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281451
chr1:2281451 CGGAGATC
others(380): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATA
GAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
 C
C
 1 a0001c0001t0045g0294
a0001c0001t0045g0294
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.970-21497_970-2111
others(4): Show 
c.970-21497_970-21111del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281451
chr1:2281451 CGGAGATC
others(1026): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATA
GAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA
GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGT
 C
C
 1 a0001c0001t0067g0097
a0001c0001t0067g0097
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.970-21502_970-2047
others(4): Show 
c.970-21502_970-20470del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281451
chr1:2281454 A
A
 AGATCTTC
others(37): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-21509_970-2150
others(48): Show 
c.970-21509_970-21508insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281454
chr1:2281454 A
A
 C
C
 37 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
others(34): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0003g0204
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0011g0003
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0068g0145
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0006t0040g0053
a0001c0012t0011g0266
a0002c0015t0002g0185
 38 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(35): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00735.hp1
HG01099.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp1
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp2
HG02280.hp2
HG02723.hp2
HG02735.hp2
HG02896.hp2
HG02976.hp2
HG03017.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
NA18956.hp1
NA18983.hp2
NA19043.hp2
NA19065.hp1
NA20129.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21524A>C
c.970-21524A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281454
chr1:2281454 A
A
 T
T
 1 a0001c0001t0013g0176
a0001c0001t0013g0176
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.970-21524A>T
c.970-21524A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281454
chr1:2281461 C
C
 CAG
CAG
 3 a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0002g0109
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0002g0109
 3 HG01081.hp1
HG02015.hp1
NA19070.hp2
HG01081.hp1
HG02015.hp1
NA19070.hp2
 intron_variant MODIFIER c.970-21510_970-2150
others(6): Show 
c.970-21510_970-21509dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281461
chr1:2281463 G
G
 T
T
 6 a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0001t0021g0316
others(3): Show 
a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0001t0021g0316
a0001c0003t0001g0172
a0001c0003t0001g0175
a0002c0004t0001g0187
 6 HG01928.hp1
HG02717.hp1
HG02886.hp1
others(3): Show 
HG01928.hp1
HG02717.hp1
HG02886.hp1
HG03471.hp1
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21515G>T
c.970-21515G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281463
chr1:2281463 GAGAGAGG
others(79): Show 
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT
 G
G
 2 a0001c0001t0009g0095
a0001c0001t0085g0263
a0001c0001t0009g0095
a0001c0001t0085g0263
 2 HG00280.hp2
HG02818.hp2
HG00280.hp2
HG02818.hp2
 intron_variant MODIFIER c.970-21484_970-2139
others(90): Show 
c.970-21484_970-21399delTGGAGATCTTCAGAGAGAGGACGCCC
GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA
CAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281463
chr1:2281465 GAGAGGAC
others(77): Show 
GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA
CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT
 G
G
 1 a0001c0001t0003g0163
a0001c0001t0003g0163
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.970-21508_970-2142
others(88): Show 
c.970-21508_970-21425delGACGCCCGAGAGGACAGGCGGTGGTG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT
TCATAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281465
chr1:2281468 A
A
 AGGACGCC
others(251): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGC
GGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGC
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-21498_970-2149
others(262): Show 
c.970-21498_970-21497insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
AAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCG
AGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGAC
AGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC
GGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281468 A
A
 C
C
 14 a0001c0001t0002g0123
a0001c0001t0002g0247
a0001c0001t0002g0277
others(11): Show 
a0001c0001t0002g0123
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0003g0204
a0001c0001t0006g0142
a0001c0001t0010g0085
a0001c0001t0013g0176
a0001c0001t0017g0068
a0001c0001t0029g0056
a0001c0001t0053g0082
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0006t0040g0053
a0002c0015t0002g0185
 14 HG00423.hp2
HG00438.hp1
HG00735.hp2
others(11): Show 
HG00423.hp2
HG00438.hp1
HG00735.hp2
HG01346.hp1
HG01515.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp2
HG02896.hp2
HG03225.hp2
HG03516.hp1
HG03669.hp2
NA18980.hp1
NA18983.hp2
 intron_variant MODIFIER c.970-21510A>C
c.970-21510A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281468
chr1:2281468 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 6 a0001c0001t0002g0320
a0001c0001t0004g0260
a0001c0001t0005g0227
others(3): Show 
a0001c0001t0002g0320
a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0001t0008g0239
a0001c0001t0021g0316
a0001c0001t0025g0238
 6 HG00544.hp2
HG00621.hp2
HG01928.hp1
others(3): Show 
HG00544.hp2
HG00621.hp2
HG01928.hp1
HG02258.hp2
HG02717.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21507_970-2148
others(24): Show 
c.970-21507_970-21488delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281468 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGC
 A
A
 5 a0001c0001t0003g0209
a0001c0001t0007g0061
a0001c0001t0007g0305
others(2): Show 
a0001c0001t0003g0209
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0009g0308
a0001c0001t0050g0309
 5 HG01261.hp2
HG01978.hp1
HG02258.hp1
others(2): Show 
HG01261.hp2
HG01978.hp1
HG02258.hp1
HG03540.hp2
NA18522.hp1
 intron_variant MODIFIER c.970-21507_970-2144
others(67): Show 
c.970-21507_970-21445delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281468 AGGACGCC
others(99): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAG
GACAGGC
 A
A
 4 a0001c0001t0002g0242
a0001c0001t0003g0246
a0001c0003t0001g0172
others(1): Show 
a0001c0001t0002g0242
a0001c0001t0003g0246
a0001c0003t0001g0172
a0001c0003t0001g0175
 4 HG02886.hp1
HG03471.hp1
NA18947.hp1
others(1): Show 
HG02886.hp1
HG03471.hp1
NA18947.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-21507_970-2140
others(4): Show 
c.970-21507_970-21402del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281468 AGGACGCC
others(228): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAG
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0008g0111
a0001c0001t0008g0111
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.970-21507_970-2127
others(4): Show 
c.970-21507_970-21273del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281468 AGGACGCC
others(271): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAG
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0082g0156
a0001c0001t0082g0156
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.970-21507_970-2123
others(4): Show 
c.970-21507_970-21230del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281468
chr1:2281469 G
G
 A
A
 17 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0299
others(14): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0049
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0062
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0009g0103
a0001c0001t0012g0194
a0001c0001t0016g0298
a0001c0001t0019g0233
a0001c0001t0056g0315
a0001c0014t0001g0174
 17 HG00738.hp1
HG00741.hp1
HG02145.hp1
others(14): Show 
HG00738.hp1
HG00741.hp1
HG02145.hp1
HG02165.hp1
HG02698.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03225.hp1
HG03654.hp1
NA18977.hp2
NA18979.hp1
NA18995.hp1
NA19081.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21509G>A
c.970-21509G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281469
chr1:2281469 G
G
 GA
GA
 30 a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0002g0094
others(27): Show 
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0203
a0001c0001t0003g0031
a0001c0001t0003g0046
a0001c0001t0003g0197
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0274
a0001c0001t0004g0009
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0007g0302
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0009g0307
a0001c0001t0010g0208
a0001c0001t0012g0258
a0001c0001t0017g0287
a0001c0001t0022g0303
a0001c0001t0024g0169
a0001c0001t0035g0261
a0001c0001t0062g0257
a0001c0001t0073g0216
a0001c0001t0088g0120
a0001c0003t0020g0015
 30 HG00642.hp2
HG01891.hp1
HG01981.hp2
others(27): Show 
HG00642.hp2
HG01891.hp1
HG01981.hp2
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03831.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18954.hp2
NA18959.hp2
NA18962.hp1
NA18983.hp1
NA18984.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-21509_970-2150
others(5): Show 
c.970-21509_970-21508insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281469
chr1:2281469 G
G
 GAGATGCC
others(81): Show 
GAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-21509_970-2150
others(92): Show 
c.970-21509_970-21508insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281469
chr1:2281469 G
G
 GGACACCT
others(59): Show 
GGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-21506_970-2150
others(70): Show 
c.970-21506_970-21505insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281469
chr1:2281469 GGACGCCC
others(78): Show 
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGA
 G
G
 1 a0001c0001t0010g0092
a0001c0001t0010g0092
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.970-21507_970-2142
others(89): Show 
c.970-21507_970-21423delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CATAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281469
chr1:2281469 GGACGCCC
others(121): Show 
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 3 a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0025g0122
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0025g0122
 3 HG00673.hp1
NA18906.hp1
NA18964.hp2
HG00673.hp1
NA18906.hp1
NA18964.hp2
 intron_variant MODIFIER c.970-21507_970-2138
others(4): Show 
c.970-21507_970-21380del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281469
chr1:2281469 GGACGCCC
others(164): Show 
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGA
 G
G
 3 a0001c0001t0001g0304
a0002c0002t0002g0180
a0002c0002t0011g0179
a0001c0001t0001g0304
a0002c0002t0002g0180
a0002c0002t0011g0179
 3 HG01891.hp2
NA18522.hp2
NA20300.hp2
HG01891.hp2
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-21507_970-2133
others(4): Show 
c.970-21507_970-21337del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281469
chr1:2281472 C
C
 A
A
 3 a0001c0001t0004g0134
a0001c0001t0005g0066
a0001c0001t0013g0177
a0001c0001t0004g0134
a0001c0001t0005g0066
a0001c0001t0013g0177
 3 HG01261.hp1
HG01346.hp2
HG02735.hp2
HG01261.hp1
HG01346.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-21506C>A
c.970-21506C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281472
chr1:2281472 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0003g0213
a0001c0001t0003g0213
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.970-21498_970-2149
others(48): Show 
c.970-21498_970-21497insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281472
chr1:2281472 C
C
 T
T
 51 a0001c0001t0001g0078
a0001c0001t0001g0195
a0001c0001t0001g0205
others(48): Show 
a0001c0001t0001g0078
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0203
a0001c0001t0003g0031
a0001c0001t0003g0046
a0001c0001t0003g0197
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0251
a0001c0001t0003g0274
a0001c0001t0004g0009
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0007g0302
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0008g0202
a0001c0001t0009g0307
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0012g0258
a0001c0001t0017g0287
a0001c0001t0022g0303
a0001c0001t0024g0169
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0001t0066g0282
a0001c0001t0073g0216
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0003t0020g0015
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
 51 HG00642.hp2
HG00741.hp2
HG01243.hp1
others(48): Show 
HG00642.hp2
HG00741.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03704.hp2
HG03831.hp1
HG04199.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp2
NA18954.hp2
NA18959.hp2
NA18962.hp1
NA18971.hp1
NA18983.hp1
NA18984.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21506C>T
c.970-21506C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281472
chr1:2281472 CGCCCGAG
others(165): Show 
CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA
GAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGAT
 C
C
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-21497_970-2132
others(4): Show 
c.970-21497_970-21326del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281472
chr1:2281473 G
G
 A
A
 17 a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
others(14): Show 
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0062
a0001c0001t0005g0207
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0012g0194
a0001c0001t0016g0298
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0030g0054
a0001c0001t0056g0315
a0001c0003t0001g0170
a0001c0014t0001g0174
 17 HG00738.hp1
HG00741.hp1
HG01169.hp1
others(14): Show 
HG00738.hp1
HG00741.hp1
HG01169.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03041.hp1
HG03225.hp1
HG03654.hp1
NA18977.hp2
NA18979.hp1
NA18995.hp1
NA19043.hp1
NA19081.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21505G>A
c.970-21505G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281473
chr1:2281475 C
C
 G
G
 13 a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
others(10): Show 
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0062
a0001c0001t0007g0108
a0001c0001t0008g0041
a0001c0001t0012g0194
a0001c0001t0016g0298
a0001c0001t0019g0233
a0001c0001t0056g0315
a0001c0014t0001g0174
 13 HG00738.hp1
HG00741.hp1
HG02717.hp2
others(10): Show 
HG00738.hp1
HG00741.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03225.hp1
HG03654.hp1
NA18977.hp2
NA18979.hp1
NA18995.hp1
NA19081.hp2
 intron_variant MODIFIER c.970-21503C>G
c.970-21503C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281475
chr1:2281476 C
C
 T
T
 30 a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0313
others(27): Show 
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0084
a0001c0001t0002g0106
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0062
a0001c0001t0003g0158
a0001c0001t0004g0218
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0207
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0030g0054
a0001c0001t0056g0315
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0014t0001g0174
 30 HG00738.hp1
HG00741.hp1
HG01169.hp1
others(27): Show 
HG00738.hp1
HG00741.hp1
HG01169.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02074.hp1
HG02273.hp2
HG02300.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03654.hp1
HG04184.hp1
NA18977.hp2
NA18979.hp1
NA18982.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp1
NA19081.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-21502C>T
c.970-21502C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281476
chr1:2281476 CGAGAGGA
others(466): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-21497_970-2102
others(4): Show 
c.970-21497_970-21025del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281476
chr1:2281476 CGAGAGGA
others(552): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCC
 C
C
 1 a0001c0001t0003g0251
a0001c0001t0003g0251
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.970-21497_970-2093
others(4): Show 
c.970-21497_970-20939del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281476
chr1:2281477 G
G
 A
A
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-21501G>A
c.970-21501G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281477
chr1:2281481 G
G
 A
A
 216 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(213): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0048
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
 218 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(215): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21497G>A
c.970-21497G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281481
chr1:2281486 G
G
 T
T
 5 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0005g0089
others(2): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0005g0089
a0001c0001t0007g0086
a0001c0001t0014g0144
 5 HG00735.hp1
HG01361.hp1
HG03017.hp1
others(2): Show 
HG00735.hp1
HG01361.hp1
HG03017.hp1
HG04115.hp1
NA18956.hp1
 intron_variant MODIFIER c.970-21492G>T
c.970-21492G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281486
chr1:2281488 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-21490_970-2148
others(27): Show 
c.970-21490_970-21489insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281488
chr1:2281488 C
C
 CGGTGGCG
others(81): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-21485_970-2148
others(92): Show 
c.970-21485_970-21484insCGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAA
GACAGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281488
chr1:2281488 C
C
 T
T
 6 a0001c0001t0001g0148
a0001c0001t0002g0301
a0001c0001t0003g0130
others(3): Show 
a0001c0001t0001g0148
a0001c0001t0002g0301
a0001c0001t0003g0130
a0001c0001t0007g0108
a0001c0001t0012g0155
a0001c0001t0012g0194
 6 HG03654.hp1
HG04184.hp2
NA18967.hp2
others(3): Show 
HG03654.hp1
HG04184.hp2
NA18967.hp2
NA18991.hp2
NA19070.hp2
NA19081.hp2
 intron_variant MODIFIER c.970-21490C>T
c.970-21490C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281488
chr1:2281489 G
G
 A
A
 2 a0001c0001t0002g0094
a0001c0003t0001g0170
a0001c0001t0002g0094
a0001c0003t0001g0170
 2 HG03041.hp1
HG03041.hp2
HG03041.hp1
HG03041.hp2
 intron_variant MODIFIER c.970-21489G>A
c.970-21489G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281489
chr1:2281489 G
G
 GGCGGCGG
others(124): Show 
GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCG
GAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCA
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-21488_970-2148
others(135): Show 
c.970-21488_970-21487insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
GGCAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281489
chr1:2281491 T
T
 C
C
 45 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
others(42): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0322
a0001c0001t0003g0046
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0008g0196
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0002c0004t0001g0188
a0002c0015t0002g0185
 45 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(42): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp1
HG01891.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02300.hp1
HG02735.hp2
HG02896.hp2
HG03017.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG04115.hp1
NA18956.hp1
NA18959.hp1
NA18980.hp1
NA18983.hp2
NA19012.hp1
NA19030.hp1
NA19063.hp2
NA19065.hp1
NA19068.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21487T>C
c.970-21487T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281491
chr1:2281494 T
T
 C
C
 231 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(228): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0003t0001g0170
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 233 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(230): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21484T>C
c.970-21484T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281494
chr1:2281494 TGGAGATC
others(79): Show 
TGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGC
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21454_970-2136
others(90): Show 
c.970-21454_970-21369delGGACAGGCGGTGGTGGAGATCTTCAT
AGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281494
chr1:2281497 A
A
 C
C
 25 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
others(22): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0322
a0001c0001t0003g0204
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0047g0293
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
 25 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(22): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00735.hp1
HG01099.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02735.hp2
HG03017.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp2
HG03579.hp1
HG04115.hp1
NA18956.hp1
NA19030.hp1
NA19068.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21481A>C
c.970-21481A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281497
chr1:2281497 A
A
 T
T
 5 a0001c0001t0002g0123
a0001c0001t0006g0142
a0001c0001t0017g0068
others(2): Show 
a0001c0001t0002g0123
a0001c0001t0006g0142
a0001c0001t0017g0068
a0001c0001t0068g0145
a0001c0001t0075g0023
 5 HG00423.hp2
HG00438.hp1
HG02145.hp2
others(2): Show 
HG00423.hp2
HG00438.hp1
HG02145.hp2
HG02896.hp2
HG03669.hp2
 intron_variant MODIFIER c.970-21481A>T
c.970-21481A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281497
chr1:2281504 C
C
 CAG
CAG
 11 a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0003g0127
others(8): Show 
a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0003g0127
a0001c0001t0004g0013
a0001c0001t0005g0157
a0001c0001t0010g0164
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0052g0007
 11 HG00609.hp1
HG02273.hp2
HG03927.hp1
others(8): Show 
HG00609.hp1
HG02273.hp2
HG03927.hp1
HG04204.hp1
NA18944.hp2
NA18954.hp1
NA18990.hp2
NA19000.hp2
NA19011.hp2
NA19064.hp1
NA19080.hp2
 intron_variant MODIFIER c.970-21467_970-2146
others(6): Show 
c.970-21467_970-21466dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281504
chr1:2281506 G
G
 T
T
 1 a0001c0003t0001g0170
a0001c0003t0001g0170
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.970-21472G>T
c.970-21472G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281506
chr1:2281506 GAGAGAGG
others(36): Show 
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT
 G
G
 3 a0001c0001t0001g0146
a0001c0001t0013g0177
a0001c0001t0042g0319
a0001c0001t0001g0146
a0001c0001t0013g0177
a0001c0001t0042g0319
 3 HG01261.hp1
HG03942.hp1
NA19002.hp2
HG01261.hp1
HG03942.hp1
NA19002.hp2
 intron_variant MODIFIER c.970-21441_970-2139
others(47): Show 
c.970-21441_970-21399delTGGAGATCTTCATAGAGAGGACGCCC
GAGAGGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281506
chr1:2281506 GAGAGAGG
others(206): Show 
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAG
GACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
TGGTGGAGATCTTC
 G
G
 1 a0001c0001t0005g0161
a0001c0001t0005g0161
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.970-21465_970-2125
others(4): Show 
c.970-21465_970-21253del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281506
chr1:2281511 A
A
 AGAGATGC
others(123): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACATGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0007g0133
a0001c0001t0007g0133
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.970-21466_970-2146
others(134): Show 
c.970-21466_970-21465insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAG
AGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281511 A
A
 C
C
 15 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0255
others(12): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0255
a0001c0001t0002g0123
a0001c0001t0002g0277
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0014g0144
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0053g0082
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0081g0083
a0002c0004t0001g0187
 15 HG00423.hp2
HG00438.hp1
HG00735.hp1
others(12): Show 
HG00423.hp2
HG00438.hp1
HG00735.hp1
HG01993.hp1
HG02071.hp1
HG02145.hp2
HG02896.hp2
HG03017.hp1
HG03516.hp2
HG03669.hp2
HG04115.hp1
HG04115.hp2
NA18956.hp1
NA18982.hp1
NA18983.hp2
 intron_variant MODIFIER c.970-21467A>C
c.970-21467A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281511
chr1:2281511 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 5 a0001c0001t0001g0205
a0001c0001t0008g0202
a0001c0001t0022g0303
others(2): Show 
a0001c0001t0001g0205
a0001c0001t0008g0202
a0001c0001t0022g0303
a0001c0001t0035g0261
a0001c0001t0041g0306
 5 HG02818.hp1
HG03486.hp2
NA18906.hp2
others(2): Show 
HG02818.hp1
HG03486.hp2
NA18906.hp2
NA18991.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21464_970-2144
others(24): Show 
c.970-21464_970-21445delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281511 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC
CCGAGAGGACAGGC
 A
A
 1 a0001c0001t0003g0158
a0001c0001t0003g0158
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.970-21464_970-2140
others(67): Show 
c.970-21464_970-21402delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281511 AGGACGCC
others(142): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0001g0195
a0001c0001t0008g0193
a0001c0001t0001g0195
a0001c0001t0008g0193
 2 NA18942.hp2
NA18945.hp2
NA18942.hp2
NA18945.hp2
 intron_variant MODIFIER c.970-21464_970-2131
others(4): Show 
c.970-21464_970-21316del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281511 AGGACGCC
others(185): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0003t0001g0170
a0001c0003t0001g0170
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.970-21464_970-2127
others(4): Show 
c.970-21464_970-21273del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281511 AGGACGCC
others(400): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC
CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
GGACAGGC
 A
A
 1 a0001c0001t0007g0302
a0001c0001t0007g0302
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.970-21464_970-2105
others(4): Show 
c.970-21464_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281511
chr1:2281512 G
G
 A
A
 19 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
others(16): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
a0001c0001t0002g0320
a0001c0001t0003g0039
a0001c0001t0003g0062
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0005g0227
a0001c0001t0008g0239
a0001c0001t0021g0316
a0001c0001t0025g0238
a0001c0001t0030g0054
a0001c0001t0038g0212
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0080g0043
 19 HG00423.hp1
HG00544.hp2
HG00621.hp2
others(16): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG01928.hp1
HG01928.hp2
HG02155.hp2
HG02258.hp2
HG02717.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18995.hp1
NA18998.hp1
NA19043.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21466G>A
c.970-21466G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281512
chr1:2281512 G
G
 GA
GA
 18 a0001c0001t0001g0119
a0001c0001t0001g0240
a0001c0001t0002g0036
others(15): Show 
a0001c0001t0001g0119
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0222
a0001c0001t0003g0191
a0001c0001t0003g0214
a0001c0001t0003g0289
a0001c0001t0005g0199
a0001c0001t0005g0221
a0001c0001t0008g0107
a0001c0001t0019g0223
a0001c0001t0029g0056
a0001c0001t0061g0138
a0001c0001t0065g0312
a0001c0001t0086g0286
a0001c0003t0007g0171
a0001c0009t0004g0064
a0002c0002t0002g0002
 19 HG00280.hp1
HG01123.hp1
HG01256.hp1
others(16): Show 
HG00280.hp1
HG01123.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG02155.hp1
HG02630.hp1
HG03017.hp2
HG03516.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp2
NA18998.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21466_970-2146
others(5): Show 
c.970-21466_970-21465insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281512
chr1:2281512 G
G
 GGACACCT
others(59): Show 
GGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-21463_970-2146
others(70): Show 
c.970-21463_970-21462insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281512
chr1:2281515 C
C
 A
A
 5 a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0004g0009
a0001c0001t0014g0070
a0001c0001t0047g0293
 5 HG00099.hp2
HG00323.hp2
HG01257.hp2
others(2): Show 
HG00099.hp2
HG00323.hp2
HG01257.hp2
HG03579.hp1
NA19068.hp2
 intron_variant MODIFIER c.970-21463C>A
c.970-21463C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281515
chr1:2281515 C
C
 CGCCCGAG
others(123): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-21455_970-2145
others(134): Show 
c.970-21455_970-21454insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCC
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281515
chr1:2281515 C
C
 CGCCTGAG
others(446): Show 
CGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA
GAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACA
GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG
GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
GAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA
CAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGG
CGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA
GGAT
 1 a0001c0001t0002g0084
a0001c0001t0002g0084
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.970-21460_970-2145
others(457): Show 
c.970-21460_970-21459insTGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGAC
AGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC
GGCGGAGATCTTCAGAGAGAGGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281515
chr1:2281515 C
C
 T
T
 41 a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0001g0240
others(38): Show 
a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0001g0240
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0003g0046
a0001c0001t0003g0063
a0001c0001t0003g0191
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0243
a0001c0001t0003g0289
a0001c0001t0004g0248
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0199
a0001c0001t0005g0221
a0001c0001t0008g0107
a0001c0001t0010g0085
a0001c0001t0010g0208
a0001c0001t0012g0215
a0001c0001t0013g0176
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0029g0056
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0003t0007g0171
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0015t0002g0185
 43 HG00280.hp1
HG00642.hp2
HG00733.hp2
others(40): Show 
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp2
HG01123.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01981.hp2
HG02015.hp2
HG02109.hp2
HG02155.hp1
HG02273.hp1
HG02630.hp1
HG02738.hp1
HG03017.hp2
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp2
NA18954.hp2
NA18967.hp1
NA18980.hp1
NA18998.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21463C>T
c.970-21463C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281515
chr1:2281515 CGCCCGAG
others(122): Show 
CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGA
GAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 C
C
 1 a0003c0013t0032g0178
a0003c0013t0032g0178
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.970-21454_970-2132
others(4): Show 
c.970-21454_970-21326del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281515
chr1:2281516 G
G
 A
A
 17 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
others(14): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
a0001c0001t0002g0320
a0001c0001t0003g0039
a0001c0001t0003g0062
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0008g0239
a0001c0001t0021g0316
a0001c0001t0025g0238
a0001c0001t0038g0212
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0080g0043
a0001c0003t0009g0173
 17 HG00423.hp1
HG00544.hp2
HG00621.hp2
others(14): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG01928.hp2
HG02155.hp2
HG02258.hp2
HG02717.hp1
HG03486.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18995.hp1
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-21462G>A
c.970-21462G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281516
chr1:2281518 C
C
 G
G
 16 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
others(13): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
a0001c0001t0002g0320
a0001c0001t0003g0039
a0001c0001t0003g0062
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0008g0239
a0001c0001t0021g0316
a0001c0001t0025g0238
a0001c0001t0038g0212
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0080g0043
 16 HG00423.hp1
HG00544.hp2
HG00621.hp2
others(13): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG01928.hp2
HG02155.hp2
HG02258.hp2
HG02717.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18995.hp1
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-21460C>G
c.970-21460C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281518
chr1:2281519 C
C
 CGAGAAGA
others(317): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
TGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.970-21455_970-2145
others(328): Show 
c.970-21455_970-21454insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCG
AGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGAC
AGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGT
GGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281519
chr1:2281519 C
C
 T
T
 29 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
others(26): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0002g0038
a0001c0001t0002g0320
a0001c0001t0003g0039
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0234
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0325
a0001c0001t0008g0042
a0001c0001t0008g0239
a0001c0001t0012g0160
a0001c0001t0013g0069
a0001c0001t0021g0316
a0001c0001t0025g0238
a0001c0001t0038g0212
a0001c0001t0049g0087
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0080g0043
a0001c0003t0009g0173
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0004t0002g0186
 29 HG00423.hp1
HG00544.hp2
HG00621.hp2
others(26): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp2
HG00741.hp2
HG01070.hp2
HG01243.hp1
HG01928.hp2
HG01952.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp2
HG02717.hp1
HG03486.hp1
HG03540.hp1
HG04199.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18967.hp2
NA18971.hp1
NA18995.hp1
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-21459C>T
c.970-21459C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281519
chr1:2281524 G
G
 A
A
 208 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(205): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0188
a0002c0004t0002g0186
 208 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(205): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21454G>A
c.970-21454G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281524
chr1:2281529 G
G
 T
T
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-21449G>T
c.970-21449G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281529
chr1:2281531 C
C
 CGGCGGCG
others(79): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0003g0046
a0001c0001t0003g0046
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-21445_970-2144
others(90): Show 
c.970-21445_970-21444insCGGCGGCGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGA
AGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281531
chr1:2281531 C
C
 CGGCGGCG
others(231): Show 
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-21445_970-2144
others(242): Show 
c.970-21445_970-21444insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281531
chr1:2281531 C
C
 CGGTGGCG
others(36): Show 
CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-21442_970-2144
others(47): Show 
c.970-21442_970-21441insCGGAGATCTTCAGAGAGAAGACACGT
GAGAAGACAGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281531
chr1:2281531 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 2 a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0003g0191
a0001c0001t0008g0107
 2 NA19084.hp1
NA19084.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21442_970-2144
others(70): Show 
c.970-21442_970-21441insCGGAGATCTTCAGAGAGAGGTGGCGG
AGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281531
chr1:2281531 C
C
 T
T
 17 a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0001g0313
others(14): Show 
a0001c0001t0001g0016
a0001c0001t0001g0125
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0003g0127
a0001c0001t0004g0013
a0001c0001t0008g0239
a0001c0001t0009g0307
a0001c0001t0010g0164
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0149
a0001c0001t0025g0238
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0062g0257
a0001c0001t0074g0192
 17 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(14): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01928.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG04204.hp1
NA18944.hp2
NA18954.hp1
NA18990.hp2
NA19000.hp2
NA19011.hp2
NA19064.hp1
NA19080.hp2
 intron_variant MODIFIER c.970-21447C>T
c.970-21447C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281531
chr1:2281532 G
G
 A
A
 14 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(11): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0013g0176
a0001c0003t0009g0173
 14 HG00735.hp2
HG01361.hp2
HG01975.hp1
others(11): Show 
HG00735.hp2
HG01361.hp2
HG01975.hp1
HG02004.hp2
HG03486.hp1
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18984.hp2
NA18990.hp1
NA19007.hp1
NA19011.hp1
NA19062.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21446G>A
c.970-21446G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281532
chr1:2281534 T
T
 C
C
 41 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
others(38): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0093
a0001c0001t0002g0123
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0002g0322
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0142
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0024g0005
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0012t0011g0266
a0002c0004t0001g0187
 42 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(39): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01257.hp2
HG01361.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02896.hp2
HG02976.hp2
HG03017.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
NA18956.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA19043.hp2
NA19068.hp2
NA20129.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21444T>C
c.970-21444T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281534
chr1:2281537 T
T
 C
C
 236 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(233): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 238 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(235): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21441T>C
c.970-21441T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281537
chr1:2281537 T
T
 TGGAGATC
others(231): Show 
TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC
AGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGC
GGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAG
ATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGC
 1 a0002c0015t0002g0185
a0002c0015t0002g0185
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.970-21430_970-2142
others(242): Show 
c.970-21430_970-21429insGAGAGAGGACGCCTGAGAAGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281537
chr1:2281540 A
A
 C
C
 22 a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0075
others(19): Show 
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0093
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0004g0009
a0001c0001t0004g0134
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0010g0096
a0001c0001t0011g0265
a0001c0001t0014g0229
a0001c0001t0024g0005
a0001c0001t0075g0023
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
 22 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(19): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00438.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02630.hp2
HG02735.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
NA19068.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21438A>C
c.970-21438A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281540
chr1:2281540 A
A
 T
T
 4 a0001c0001t0001g0132
a0001c0001t0007g0086
a0001c0001t0007g0133
others(1): Show 
a0001c0001t0001g0132
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0014g0144
 4 HG00735.hp1
HG03017.hp1
HG04115.hp1
others(1): Show 
HG00735.hp1
HG03017.hp1
HG04115.hp1
NA18979.hp2
 intron_variant MODIFIER c.970-21438A>T
c.970-21438A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281540
chr1:2281547 C
C
 CAG
CAG
 6 a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0323
others(3): Show 
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0323
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0088g0120
 6 HG01081.hp1
HG02735.hp2
NA19065.hp2
others(3): Show 
HG01081.hp1
HG02735.hp2
NA19065.hp2
NA19070.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21430_970-2142
others(6): Show 
c.970-21430_970-21429insGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281547
chr1:2281549 T
T
 G
G
 223 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(220): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 225 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(222): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21429T>G
c.970-21429T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281549
chr1:2281549 T
T
 TAGAGAGG
others(16): Show 
TAGAGAGGTGGCGGAGATCTTCAG
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-21422_970-2142
others(27): Show 
c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281549
chr1:2281549 T
T
 TAGAGAGG
others(59): Show 
TAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTG
GTGGCGGAGATCTTCAG
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-21422_970-2142
others(70): Show 
c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281549
chr1:2281549 T
T
 TAGAGAGG
others(59): Show 
TAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAG
 1 a0001c0001t0007g0098
a0001c0001t0007g0098
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.970-21422_970-2142
others(70): Show 
c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAAGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281549
chr1:2281554 A
A
 C
C
 9 a0001c0001t0002g0093
a0001c0001t0004g0248
a0001c0001t0007g0086
others(6): Show 
a0001c0001t0002g0093
a0001c0001t0004g0248
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0014g0144
a0001c0001t0024g0005
a0001c0001t0047g0293
a0001c0001t0075g0023
a0002c0002t0002g0002
 10 HG00438.hp1
HG00735.hp1
HG01256.hp1
others(7): Show 
HG00438.hp1
HG00735.hp1
HG01256.hp1
HG01258.hp1
HG02273.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG04115.hp1
NA18979.hp2
 intron_variant MODIFIER c.970-21424A>C
c.970-21424A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281554
chr1:2281554 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 8 a0001c0001t0002g0301
a0001c0001t0004g0037
a0001c0001t0004g0325
others(5): Show 
a0001c0001t0002g0301
a0001c0001t0004g0037
a0001c0001t0004g0325
a0001c0001t0009g0103
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0003t0009g0173
a0001c0012t0011g0266
 9 HG02145.hp1
HG02280.hp2
HG02723.hp2
others(6): Show 
HG02145.hp1
HG02280.hp2
HG02723.hp2
HG02976.hp2
HG03486.hp1
HG04184.hp2
NA19011.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-21421_970-2140
others(24): Show 
c.970-21421_970-21402delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281554 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 4 a0001c0001t0065g0312
a0002c0002t0002g0184
a0002c0002t0022g0181
others(1): Show 
a0001c0001t0065g0312
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 4 HG01243.hp1
HG02647.hp2
HG03540.hp1
others(1): Show 
HG01243.hp1
HG02647.hp2
HG03540.hp1
HG03942.hp2
 intron_variant MODIFIER c.970-21421_970-2135
others(67): Show 
c.970-21421_970-21359delACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281554 AGGACGCC
others(99): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGC
 A
A
 1 a0001c0001t0005g0199
a0001c0001t0005g0199
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.970-21421_970-2131
others(4): Show 
c.970-21421_970-21316del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281554 AGGACGCC
others(142): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0058g0297
a0001c0001t0058g0297
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-21421_970-2127
others(4): Show 
c.970-21421_970-21273del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281554 AGGACGCC
others(185): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0006g0131
a0001c0001t0006g0131
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.970-21421_970-2123
others(4): Show 
c.970-21421_970-21230del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281554 AGGACGCC
others(357): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.970-21421_970-2105
others(4): Show 
c.970-21421_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281554
chr1:2281555 G
G
 A
A
 13 a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0003g0031
others(10): Show 
a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0209
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0008g0202
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0022g0303
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0050g0309
 13 HG01261.hp2
HG01978.hp1
HG02258.hp1
others(10): Show 
HG01261.hp2
HG01978.hp1
HG02258.hp1
HG02572.hp1
HG02818.hp1
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18959.hp2
NA18991.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21423G>A
c.970-21423G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281555
chr1:2281555 G
G
 GA
GA
 37 a0001c0001t0001g0018
a0001c0001t0001g0078
a0001c0001t0001g0121
others(34): Show 
a0001c0001t0001g0018
a0001c0001t0001g0078
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0003g0116
a0001c0001t0003g0270
a0001c0001t0004g0008
a0001c0001t0004g0230
a0001c0001t0005g0207
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0284
a0001c0001t0007g0108
a0001c0001t0012g0155
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0018g0028
a0001c0001t0024g0169
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0073g0216
a0001c0001t0083g0231
a0001c0005t0003g0137
a0001c0007t0078g0269
a0002c0002t0055g0183
 37 HG00099.hp1
HG00609.hp2
HG00642.hp1
others(34): Show 
HG00099.hp1
HG00609.hp2
HG00642.hp1
HG01099.hp2
HG01169.hp1
HG01243.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02109.hp1
HG02165.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02896.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
NA18747.hp1
NA18946.hp1
NA18982.hp2
NA18991.hp2
NA18995.hp2
NA19000.hp1
NA19030.hp1
NA19062.hp2
NA19064.hp1
NA19067.hp1
NA19080.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21423_970-2142
others(5): Show 
c.970-21423_970-21422insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281555
chr1:2281555 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 16 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
others(13): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0019
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0008g0042
a0001c0001t0009g0100
a0001c0001t0069g0104
 16 HG01361.hp2
HG01884.hp1
HG01975.hp1
others(13): Show 
HG01361.hp2
HG01884.hp1
HG01975.hp1
HG02004.hp2
HG02615.hp2
HG02647.hp1
HG02809.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp1
NA18984.hp2
NA18990.hp1
NA19007.hp1
NA19062.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21422_970-2142
others(27): Show 
c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281555
chr1:2281558 C
C
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-21420C>A
c.970-21420C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281558
chr1:2281558 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0008g0140
a0001c0001t0008g0140
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.970-21412_970-2141
others(48): Show 
c.970-21412_970-21411insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281558
chr1:2281558 C
C
 T
T
 52 a0001c0001t0001g0018
a0001c0001t0001g0078
a0001c0001t0001g0121
others(49): Show 
a0001c0001t0001g0018
a0001c0001t0001g0078
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0003g0116
a0001c0001t0003g0270
a0001c0001t0004g0008
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0153
a0001c0001t0005g0207
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0007g0108
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0024g0169
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0068g0145
a0001c0001t0073g0216
a0001c0001t0083g0231
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0009t0004g0064
a0002c0002t0055g0183
a0002c0004t0001g0187
 52 HG00099.hp1
HG00423.hp2
HG00609.hp2
others(49): Show 
HG00099.hp1
HG00423.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG01099.hp2
HG01169.hp1
HG01243.hp2
HG01257.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp1
HG02572.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02896.hp2
HG03017.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG04115.hp2
NA18747.hp1
NA18946.hp1
NA18980.hp1
NA18982.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19030.hp1
NA19062.hp2
NA19064.hp1
NA19067.hp1
NA19080.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21420C>T
c.970-21420C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281558
chr1:2281559 G
G
 A
A
 14 a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0002g0326
others(11): Show 
a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0002g0326
a0001c0001t0003g0031
a0001c0001t0003g0209
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0202
a0001c0001t0009g0308
a0001c0001t0022g0303
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0050g0309
 14 HG01261.hp2
HG01978.hp1
HG02258.hp1
others(11): Show 
HG01261.hp2
HG01978.hp1
HG02258.hp1
HG02818.hp1
HG03130.hp1
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18959.hp2
NA18971.hp1
NA18991.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21419G>A
c.970-21419G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281559
chr1:2281561 C
C
 G
G
 13 a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0003g0031
others(10): Show 
a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0003g0031
a0001c0001t0003g0209
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0202
a0001c0001t0009g0308
a0001c0001t0022g0303
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0050g0309
 13 HG01261.hp2
HG01978.hp1
HG02258.hp1
others(10): Show 
HG01261.hp2
HG01978.hp1
HG02258.hp1
HG02818.hp1
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18959.hp2
NA18971.hp1
NA18991.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21417C>G
c.970-21417C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281561
chr1:2281562 C
C
 T
T
 28 a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0002g0027
others(25): Show 
a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0326
a0001c0001t0003g0031
a0001c0001t0003g0063
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0005g0066
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0202
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0013g0176
a0001c0001t0022g0303
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0050g0309
a0001c0001t0054g0159
a0002c0004t0001g0188
 29 HG00621.hp1
HG00735.hp2
HG01081.hp2
others(26): Show 
HG00621.hp1
HG00735.hp2
HG01081.hp2
HG01109.hp1
HG01261.hp2
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG02258.hp1
HG02300.hp1
HG02818.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18959.hp2
NA18967.hp1
NA18971.hp1
NA18991.hp1
NA19011.hp2
NA19065.hp1
NA19082.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21416C>T
c.970-21416C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281562
chr1:2281567 G
G
 A
A
 227 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(224): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0055g0183
a0002c0004t0001g0188
a0002c0004t0002g0186
 228 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(225): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21411G>A
c.970-21411G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281567
chr1:2281567 G
G
 GGACAGGC
others(145): Show 
GGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAA
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-21402_970-2140
others(156): Show 
c.970-21402_970-21401insCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281567
chr1:2281572 G
G
 T
T
 2 a0001c0001t0004g0009
a0001c0001t0013g0177
a0001c0001t0004g0009
a0001c0001t0013g0177
 2 HG01261.hp1
NA19068.hp2
HG01261.hp1
NA19068.hp2
 intron_variant MODIFIER c.970-21406G>T
c.970-21406G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281572
chr1:2281574 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 3 a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0008g0041
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0008g0041
 3 HG03130.hp1
NA18977.hp2
NA18979.hp1
HG03130.hp1
NA18977.hp2
NA18979.hp1
 intron_variant MODIFIER c.970-21404_970-2140
others(27): Show 
c.970-21404_970-21403insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281574
chr1:2281574 C
C
 CGGTGGCG
others(37): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGT
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-21380_970-2137
others(48): Show 
c.970-21380_970-21379insAGATGCCCGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281574
chr1:2281574 C
C
 T
T
 11 a0001c0001t0001g0148
a0001c0001t0001g0323
a0001c0001t0003g0032
others(8): Show 
a0001c0001t0001g0148
a0001c0001t0001g0323
a0001c0001t0003g0032
a0001c0001t0004g0114
a0001c0001t0006g0300
a0001c0001t0008g0202
a0001c0001t0014g0051
a0001c0001t0021g0316
a0001c0001t0038g0212
a0001c0001t0054g0159
a0001c0001t0088g0120
 11 HG01074.hp1
HG01884.hp2
HG01928.hp2
others(8): Show 
HG01074.hp1
HG01884.hp2
HG01928.hp2
HG02155.hp2
HG02717.hp1
NA18991.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21404C>T
c.970-21404C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281574
chr1:2281575 G
G
 A
A
 5 a0001c0001t0001g0132
a0001c0001t0002g0123
a0001c0001t0006g0142
others(2): Show 
a0001c0001t0001g0132
a0001c0001t0002g0123
a0001c0001t0006g0142
a0001c0001t0010g0092
a0001c0001t0068g0145
 5 HG00423.hp2
HG02145.hp2
HG02572.hp1
others(2): Show 
HG00423.hp2
HG02145.hp2
HG02572.hp1
HG03017.hp1
HG03669.hp2
 intron_variant MODIFIER c.970-21403G>A
c.970-21403G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281575
chr1:2281577 T
T
 C
C
 40 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0235
others(37): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0197
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0008g0196
a0001c0001t0009g0095
a0001c0001t0010g0096
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0075g0023
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0010t0048g0052
a0002c0002t0002g0189
 40 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(37): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01261.hp1
HG01361.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02572.hp2
HG02698.hp1
HG02818.hp2
HG02896.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
HG04199.hp2
NA18959.hp1
NA18971.hp2
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19002.hp1
NA19012.hp1
NA19030.hp1
NA19063.hp2
NA19064.hp1
NA19068.hp2
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21401T>C
c.970-21401T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281577
chr1:2281580 C
C
 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGT
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.970-21356_970-2135
others(47): Show 
c.970-21356_970-21355insTGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281580
chr1:2281580 C
C
 T
T
 11 a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
others(8): Show 
a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0005g0153
a0001c0001t0006g0142
a0001c0001t0010g0208
a0001c0001t0014g0070
a0001c0001t0068g0145
a0002c0004t0001g0187
a0002c0015t0002g0185
 11 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(8): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00642.hp2
HG00733.hp2
HG01257.hp2
HG01515.hp1
HG02145.hp2
HG03017.hp1
HG03669.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-21398C>T
c.970-21398C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281580
chr1:2281583 A
A
 AGATCTTC
others(252): Show 
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGA
AGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGC
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-21378_970-2137
others(263): Show 
c.970-21378_970-21377insTGCCCGAGAGGACAGGCGGCGGCGGA
GATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC
CCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281583
chr1:2281583 A
A
 C
C
 28 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0235
others(25): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0222
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0009g0095
a0001c0001t0010g0096
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0083g0231
a0001c0003t0020g0015
a0001c0010t0048g0052
 28 HG00099.hp1
HG00280.hp1
HG01099.hp2
others(25): Show 
HG00099.hp1
HG00280.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02572.hp2
HG02698.hp1
HG02818.hp2
HG02896.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA18982.hp2
NA18995.hp2
NA19030.hp1
NA19063.hp2
NA19064.hp1
NA19068.hp2
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21395A>C
c.970-21395A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281583
chr1:2281583 A
A
 T
T
 1 a0001c0001t0013g0177
a0001c0001t0013g0177
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.970-21395A>T
c.970-21395A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281583
chr1:2281590 C
C
 CAG
CAG
 5 a0001c0001t0002g0027
a0001c0001t0003g0117
a0001c0001t0004g0025
others(2): Show 
a0001c0001t0002g0027
a0001c0001t0003g0117
a0001c0001t0004g0025
a0001c0001t0004g0134
a0001c0001t0054g0159
 5 HG01928.hp2
HG02735.hp2
NA19063.hp1
others(2): Show 
HG01928.hp2
HG02735.hp2
NA19063.hp1
NA19065.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-21381_970-2138
others(6): Show 
c.970-21381_970-21380dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281590
chr1:2281592 G
G
 T
T
 4 a0001c0001t0003g0063
a0001c0001t0013g0176
a0001c0001t0085g0263
others(1): Show 
a0001c0001t0003g0063
a0001c0001t0013g0176
a0001c0001t0085g0263
a0002c0015t0002g0185
 4 HG00280.hp2
HG00735.hp2
HG01515.hp1
others(1): Show 
HG00280.hp2
HG00735.hp2
HG01515.hp1
NA18967.hp1
 intron_variant MODIFIER c.970-21386G>T
c.970-21386G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281592
chr1:2281597 A
A
 C
C
 8 a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0004g0248
others(5): Show 
a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0004g0248
a0001c0001t0009g0095
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0047g0293
a0001c0001t0051g0276
 8 HG01257.hp2
HG01261.hp1
HG02273.hp1
others(5): Show 
HG01257.hp2
HG01261.hp1
HG02273.hp1
HG02818.hp2
HG03471.hp2
HG03579.hp1
HG03927.hp2
NA19068.hp2
 intron_variant MODIFIER c.970-21381A>C
c.970-21381A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281597
chr1:2281597 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0002g0105
a0001c0001t0002g0105
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.970-21378_970-2135
others(24): Show 
c.970-21378_970-21359delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281597
chr1:2281597 AGGACGCC
others(99): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGC
 A
A
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.970-21378_970-2127
others(4): Show 
c.970-21378_970-21273del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281597
chr1:2281597 AGGACGCC
others(142): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0013g0176
a0001c0001t0013g0176
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.970-21378_970-2123
others(4): Show 
c.970-21378_970-21230del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281597
chr1:2281598 G
G
 A
A
 21 a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
others(18): Show 
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0158
a0001c0001t0003g0246
a0001c0001t0004g0037
a0001c0001t0004g0325
a0001c0001t0007g0061
a0001c0001t0008g0041
a0001c0001t0009g0103
a0001c0001t0011g0003
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0016g0317
a0001c0001t0025g0122
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0012t0011g0266
 22 HG00673.hp1
HG01952.hp2
HG01978.hp1
others(19): Show 
HG00673.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02145.hp1
HG02280.hp2
HG02723.hp2
HG02886.hp1
HG02976.hp2
HG03130.hp1
HG03471.hp1
HG03486.hp1
HG04184.hp2
NA18906.hp1
NA18947.hp1
NA18964.hp2
NA18977.hp2
NA18979.hp1
NA19011.hp1
NA19043.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.970-21380G>A
c.970-21380G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281598
chr1:2281598 G
G
 GA
GA
 35 a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0152
others(32): Show 
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0254
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0256
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0127
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0004g0090
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0005g0227
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0012g0194
a0001c0001t0014g0051
a0001c0001t0018g0147
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0026g0295
a0001c0001t0042g0319
a0001c0001t0049g0087
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0085g0263
a0001c0001t0086g0286
a0002c0002t0002g0002
a0002c0002t0055g0183
 36 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(33): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01256.hp1
HG01258.hp1
HG01884.hp2
HG01928.hp1
HG01978.hp2
HG01981.hp1
HG02258.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03209.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04199.hp1
NA18940.hp1
NA18940.hp2
NA18954.hp1
NA18954.hp2
NA18983.hp1
NA19002.hp1
NA19002.hp2
NA19057.hp2
NA19066.hp1
NA19081.hp2
 intron_variant MODIFIER c.970-21380_970-2137
others(5): Show 
c.970-21380_970-21379insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281598
chr1:2281598 G
G
 GGACGCCC
others(59): Show 
GGACGCCCGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.970-21361_970-2136
others(70): Show 
c.970-21361_970-21360insAGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281598
chr1:2281598 G
G
 GGTGGCGG
others(233): Show 
GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0005g0253
a0001c0001t0005g0253
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.970-21379_970-2137
others(244): Show 
c.970-21379_970-21378insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281598
chr1:2281601 C
C
 A
A
 6 a0001c0001t0003g0116
a0001c0001t0003g0280
a0001c0001t0004g0008
others(3): Show 
a0001c0001t0003g0116
a0001c0001t0003g0280
a0001c0001t0004g0008
a0001c0001t0005g0089
a0001c0001t0017g0068
a0001c0001t0052g0007
 6 HG01361.hp1
HG02896.hp2
NA18964.hp1
others(3): Show 
HG01361.hp1
HG02896.hp2
NA18964.hp1
NA18982.hp2
NA18995.hp2
NA19064.hp1
 intron_variant MODIFIER c.970-21377C>A
c.970-21377C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281601
chr1:2281601 C
C
 T
T
 46 a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
others(43): Show 
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0256
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0127
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0273
a0001c0001t0004g0090
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0012g0194
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0042g0319
a0001c0001t0049g0087
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0075g0023
a0001c0001t0085g0263
a0001c0001t0086g0286
a0002c0002t0002g0002
a0002c0002t0055g0183
 47 HG00280.hp2
HG00438.hp1
HG00621.hp1
others(44): Show 
HG00280.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01256.hp1
HG01258.hp1
HG01884.hp2
HG01928.hp1
HG01978.hp2
HG01981.hp1
HG02258.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03209.hp1
HG03239.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp1
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18954.hp1
NA18954.hp2
NA18964.hp2
NA18983.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19081.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-21377C>T
c.970-21377C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281601
chr1:2281602 G
G
 A
A
 12 a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
others(9): Show 
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0158
a0001c0001t0003g0246
a0001c0001t0004g0325
a0001c0001t0007g0061
a0001c0001t0011g0003
a0001c0001t0012g0258
a0001c0001t0016g0267
a0001c0003t0007g0171
a0001c0012t0011g0266
 13 HG01952.hp2
HG01978.hp1
HG02015.hp2
others(10): Show 
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02280.hp2
HG02630.hp1
HG02723.hp2
HG02976.hp2
HG03209.hp2
HG04184.hp2
NA18947.hp1
NA19043.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.970-21376G>A
c.970-21376G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281602
chr1:2281604 C
C
 G
G
 10 a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
others(7): Show 
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0158
a0001c0001t0003g0246
a0001c0001t0004g0325
a0001c0001t0007g0061
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
 11 HG01952.hp2
HG01978.hp1
HG02015.hp2
others(8): Show 
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02280.hp2
HG02723.hp2
HG02976.hp2
HG04184.hp2
NA18947.hp1
NA19043.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.970-21374C>G
c.970-21374C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281604
chr1:2281605 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-21362_970-2136
others(70): Show 
c.970-21362_970-21361insTGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281605
chr1:2281605 C
C
 T
T
 26 a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
others(23): Show 
a0001c0001t0001g0132
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0046
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0246
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0006g0142
a0001c0001t0007g0061
a0001c0001t0010g0048
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0012g0258
a0001c0001t0016g0267
a0001c0001t0068g0145
a0001c0003t0007g0171
a0001c0012t0011g0266
a0002c0004t0001g0187
 27 HG00099.hp2
HG00323.hp2
HG00423.hp2
others(24): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00642.hp2
HG00733.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02027.hp1
HG02145.hp2
HG02273.hp2
HG02280.hp2
HG02630.hp1
HG02723.hp2
HG02976.hp2
HG03017.hp1
HG03209.hp2
HG03669.hp2
HG04115.hp2
HG04184.hp2
NA18947.hp1
NA19011.hp2
NA19043.hp2
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.970-21373C>T
c.970-21373C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281605
chr1:2281606 G
G
 A
A
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21372G>A
c.970-21372G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281606
chr1:2281610 A
A
 G
G
 10 a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0004g0248
others(7): Show 
a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0004g0248
a0001c0001t0009g0095
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0075g0023
 10 HG00438.hp1
HG01257.hp2
HG01261.hp1
others(7): Show 
HG00438.hp1
HG01257.hp2
HG01261.hp1
HG02273.hp1
HG02818.hp2
HG03471.hp2
HG03579.hp1
HG03927.hp2
HG04115.hp1
NA19068.hp2
 intron_variant MODIFIER c.970-21368A>G
c.970-21368A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281610
chr1:2281615 G
G
 T
T
 2 a0001c0001t0029g0056
a0001c0010t0048g0052
a0001c0001t0029g0056
a0001c0010t0048g0052
 2 HG02572.hp2
HG03516.hp1
HG02572.hp2
HG03516.hp1
 intron_variant MODIFIER c.970-21363G>T
c.970-21363G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281615
chr1:2281617 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 7 a0001c0001t0001g0035
a0001c0001t0003g0039
a0001c0001t0004g0034
others(4): Show 
a0001c0001t0001g0035
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0012g0258
a0001c0001t0071g0024
a0001c0003t0007g0171
 7 HG02630.hp1
HG03209.hp2
NA18942.hp1
others(4): Show 
HG02630.hp1
HG03209.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19057.hp1
NA19079.hp1
 intron_variant MODIFIER c.970-21361_970-2136
others(27): Show 
c.970-21361_970-21360insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281617
chr1:2281617 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0072g0200
a0001c0001t0072g0200
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-21337_970-2133
others(114): Show 
c.970-21337_970-21336insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281617
chr1:2281617 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0002g0075
a0001c0001t0002g0075
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.970-21344_970-2134
others(27): Show 
c.970-21344_970-21343insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281617
chr1:2281617 C
C
 T
T
 6 a0001c0001t0001g0119
a0001c0001t0002g0084
a0001c0001t0004g0025
others(3): Show 
a0001c0001t0001g0119
a0001c0001t0002g0084
a0001c0001t0004g0025
a0001c0001t0004g0134
a0001c0001t0010g0085
a0002c0015t0002g0185
 6 HG01515.hp1
HG02074.hp1
HG02735.hp2
others(3): Show 
HG01515.hp1
HG02074.hp1
HG02735.hp2
HG03710.hp2
NA18980.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-21361C>T
c.970-21361C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281617
chr1:2281618 G
G
 A
A
 2 a0001c0001t0014g0144
a0001c0001t0080g0043
a0001c0001t0014g0144
a0001c0001t0080g0043
 2 HG04115.hp1
NA19090.hp2
HG04115.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-21360G>A
c.970-21360G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281618
chr1:2281620 T
T
 C
C
 46 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0152
others(43): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0037
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0012g0194
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0075g0023
a0001c0001t0083g0231
a0001c0003t0020g0015
a0001c0010t0048g0052
a0001c0012t0011g0266
 47 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(44): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00735.hp1
HG01081.hp1
HG01099.hp2
HG01123.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02572.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp2
HG02976.hp2
HG03209.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03927.hp2
NA18940.hp1
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA19002.hp1
NA19011.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp2
NA19081.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21358T>C
c.970-21358T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281620
chr1:2281623 C
C
 T
T
 4 a0001c0001t0012g0215
a0001c0001t0014g0144
a0001c0001t0073g0216
others(1): Show 
a0001c0001t0012g0215
a0001c0001t0014g0144
a0001c0001t0073g0216
a0002c0004t0001g0187
 4 HG04115.hp1
HG04115.hp2
NA19000.hp1
others(1): Show 
HG04115.hp1
HG04115.hp2
NA19000.hp1
NA19080.hp1
 intron_variant MODIFIER c.970-21355C>T
c.970-21355C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281623
chr1:2281623 CGGAGATC
others(79): Show 
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
 C
C
 3 a0001c0001t0001g0285
a0001c0001t0025g0238
a0001c0007t0078g0269
a0001c0001t0001g0285
a0001c0001t0025g0238
a0001c0007t0078g0269
 3 HG00621.hp2
HG03453.hp1
NA18946.hp1
HG00621.hp2
HG03453.hp1
NA18946.hp1
 intron_variant MODIFIER c.970-21334_970-2124
others(90): Show 
c.970-21334_970-21249delTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281623
chr1:2281626 A
A
 C
C
 37 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0152
others(34): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0037
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0052g0007
a0001c0001t0083g0231
a0001c0010t0048g0052
a0001c0012t0011g0266
 38 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(35): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01257.hp2
HG01361.hp1
HG01884.hp2
HG01928.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02572.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02896.hp2
HG02976.hp2
HG03209.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
NA18940.hp1
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA19011.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21352A>C
c.970-21352A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281626
chr1:2281626 A
A
 T
T
 2 a0001c0001t0004g0009
a0001c0001t0075g0023
a0001c0001t0004g0009
a0001c0001t0075g0023
 2 HG00438.hp1
NA19068.hp2
HG00438.hp1
NA19068.hp2
 intron_variant MODIFIER c.970-21352A>T
c.970-21352A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281626
chr1:2281633 C
C
 CAG
CAG
 7 a0001c0001t0001g0110
a0001c0001t0001g0166
a0001c0001t0001g0323
others(4): Show 
a0001c0001t0001g0110
a0001c0001t0001g0166
a0001c0001t0001g0323
a0001c0001t0002g0124
a0001c0001t0005g0157
a0001c0001t0010g0164
a0001c0001t0015g0126
 7 HG00609.hp1
HG01975.hp2
HG02165.hp2
others(4): Show 
HG00609.hp1
HG01975.hp2
HG02165.hp2
HG02273.hp2
HG03831.hp2
NA19011.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-21338_970-2133
others(6): Show 
c.970-21338_970-21337dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281633
chr1:2281635 G
G
 T
T
 6 a0001c0001t0001g0132
a0001c0001t0002g0076
a0001c0001t0002g0123
others(3): Show 
a0001c0001t0001g0132
a0001c0001t0002g0076
a0001c0001t0002g0123
a0001c0001t0003g0143
a0001c0001t0006g0142
a0001c0001t0068g0145
 6 HG00323.hp2
HG00423.hp2
HG02027.hp1
others(3): Show 
HG00323.hp2
HG00423.hp2
HG02027.hp1
HG02145.hp2
HG03017.hp1
HG03669.hp2
 intron_variant MODIFIER c.970-21343G>T
c.970-21343G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281635
chr1:2281640 A
A
 C
C
 7 a0001c0001t0004g0009
a0001c0001t0009g0095
a0001c0001t0011g0003
others(4): Show 
a0001c0001t0004g0009
a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0014g0070
a0001c0001t0016g0267
a0001c0010t0048g0052
a0001c0012t0011g0266
 8 HG01257.hp2
HG02572.hp2
HG02723.hp2
others(5): Show 
HG01257.hp2
HG02572.hp2
HG02723.hp2
HG02818.hp2
HG02976.hp2
NA19043.hp2
NA19068.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-21338A>C
c.970-21338A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281640
chr1:2281640 AGGATGCC
others(13): Show 
AGGATGCCCGAGAAGACAGGC
 A
A
 4 a0001c0001t0001g0205
a0001c0001t0002g0076
a0001c0001t0002g0101
others(1): Show 
a0001c0001t0001g0205
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0015g0201
 4 HG00323.hp2
HG00673.hp1
NA20300.hp1
others(1): Show 
HG00323.hp2
HG00673.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21335_970-2131
others(24): Show 
c.970-21335_970-21316delATGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281640
chr1:2281640 AGGATGCC
others(99): Show 
AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGC
 A
A
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.970-21335_970-2123
others(4): Show 
c.970-21335_970-21230del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281640
chr1:2281640 AGGATGCC
others(271): Show 
AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 3 a0001c0001t0001g0132
a0001c0001t0006g0142
a0001c0001t0068g0145
a0001c0001t0001g0132
a0001c0001t0006g0142
a0001c0001t0068g0145
 3 HG02145.hp2
HG03017.hp1
HG03669.hp2
HG02145.hp2
HG03017.hp1
HG03669.hp2
 intron_variant MODIFIER c.970-21335_970-2105
others(4): Show 
c.970-21335_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281640
chr1:2281641 G
G
 A
A
 23 a0001c0001t0001g0035
a0001c0001t0001g0304
a0001c0001t0002g0075
others(20): Show 
a0001c0001t0001g0035
a0001c0001t0001g0304
a0001c0001t0002g0075
a0001c0001t0002g0105
a0001c0001t0003g0039
a0001c0001t0003g0209
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0005g0207
a0001c0001t0012g0258
a0001c0001t0019g0223
a0001c0001t0021g0250
a0001c0001t0028g0055
a0001c0001t0065g0312
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0003t0007g0171
a0001c0008t0021g0252
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 23 HG00099.hp2
HG00733.hp1
HG01070.hp1
others(20): Show 
HG00099.hp2
HG00733.hp1
HG01070.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01891.hp2
HG02630.hp1
HG02647.hp2
HG03209.hp2
HG03540.hp1
HG03942.hp2
NA18522.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21337G>A
c.970-21337G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281641
chr1:2281641 G
G
 GA
GA
 66 a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
others(63): Show 
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0146
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0072
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0270
a0001c0001t0004g0006
a0001c0001t0004g0017
a0001c0001t0004g0114
a0001c0001t0004g0260
a0001c0001t0005g0198
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0210
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0316
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0027g0245
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0057g0288
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0077g0011
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0020g0015
a0001c0005t0003g0137
 66 HG00280.hp1
HG00280.hp2
HG00609.hp2
others(63): Show 
HG00280.hp1
HG00280.hp2
HG00609.hp2
HG01081.hp2
HG01123.hp1
HG01243.hp2
HG01257.hp1
HG01361.hp2
HG01891.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02074.hp2
HG02109.hp2
HG02155.hp2
HG02258.hp1
HG02572.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03942.hp1
NA18522.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18956.hp2
NA18961.hp2
NA18979.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19066.hp2
NA19067.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21337_970-2133
others(5): Show 
c.970-21337_970-21336insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281641
chr1:2281641 G
G
 GAGATGCC
others(38): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-21337_970-2133
others(49): Show 
c.970-21337_970-21336insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281641
chr1:2281641 G
G
 GAGATGCC
others(124): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0003g0214
a0001c0001t0003g0214
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.970-21337_970-2133
others(135): Show 
c.970-21337_970-21336insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281641
chr1:2281641 G
G
 GGACGCCC
others(37): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-21335_970-2133
others(48): Show 
c.970-21335_970-21334insCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281641
chr1:2281641 G
G
 GGTGGTGG
others(16): Show 
GGTGGTGGAGATCTTCAGAGAGAA
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.970-21336_970-2133
others(27): Show 
c.970-21336_970-21335insTGGTGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281641
chr1:2281641 GGATGCCC
others(78): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0022g0303
a0001c0001t0022g0303
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.970-21335_970-2125
others(89): Show 
c.970-21335_970-21251delATGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281641
chr1:2281644 T
T
 A
A
 13 a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
others(10): Show 
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0083g0231
 13 HG00099.hp1
HG00735.hp1
HG01099.hp2
others(10): Show 
HG00099.hp1
HG00735.hp1
HG01099.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02735.hp2
HG03669.hp1
NA18940.hp1
NA18964.hp2
NA19066.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21334T>A
c.970-21334T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281644
chr1:2281644 T
T
 C
C
 171 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0030
others(168): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0116
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0227
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0031g0321
a0001c0001t0049g0087
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 173 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(170): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21334T>C
c.970-21334T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281644
chr1:2281644 T
T
 TGCCCGAG
others(80): Show 
TGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGGTGGCGGAGATCTTCATAGAGAGGAC
 1 a0001c0001t0018g0147
a0001c0001t0018g0147
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.970-21326_970-2132
others(91): Show 
c.970-21326_970-21325insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGGTGGCGGAGATCTTCATAGAGAG
GACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281644
chr1:2281644 TGCCCGAG
others(79): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
 T
T
 1 a0001c0001t0009g0308
a0001c0001t0009g0308
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.970-21282_970-2119
others(90): Show 
c.970-21282_970-21197delGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281644
chr1:2281645 G
G
 A
A
 13 a0001c0001t0001g0271
a0001c0001t0002g0075
a0001c0001t0003g0209
others(10): Show 
a0001c0001t0001g0271
a0001c0001t0002g0075
a0001c0001t0003g0209
a0001c0001t0004g0219
a0001c0001t0005g0207
a0001c0001t0005g0227
a0001c0001t0019g0223
a0001c0001t0021g0250
a0001c0001t0065g0312
a0001c0008t0021g0252
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 13 HG00099.hp2
HG00733.hp1
HG01070.hp1
others(10): Show 
HG00099.hp2
HG00733.hp1
HG01070.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01928.hp1
HG02647.hp2
HG03130.hp2
HG03540.hp1
HG03831.hp1
HG03942.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21333G>A
c.970-21333G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281645
chr1:2281647 C
C
 G
G
 11 a0001c0001t0002g0075
a0001c0001t0003g0209
a0001c0001t0004g0219
others(8): Show 
a0001c0001t0002g0075
a0001c0001t0003g0209
a0001c0001t0004g0219
a0001c0001t0005g0207
a0001c0001t0019g0223
a0001c0001t0021g0250
a0001c0001t0065g0312
a0001c0008t0021g0252
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 11 HG00099.hp2
HG00733.hp1
HG01070.hp1
others(8): Show 
HG00099.hp2
HG00733.hp1
HG01070.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG02647.hp2
HG03540.hp1
HG03831.hp1
HG03942.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21331C>G
c.970-21331C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281647
chr1:2281648 C
C
 CGAGAAGA
others(188): Show 
CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-21321_970-2132
others(199): Show 
c.970-21321_970-21320insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281648
chr1:2281648 C
C
 T
T
 22 a0001c0001t0001g0271
a0001c0001t0002g0075
a0001c0001t0002g0081
others(19): Show 
a0001c0001t0001g0271
a0001c0001t0002g0075
a0001c0001t0002g0081
a0001c0001t0002g0129
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0209
a0001c0001t0004g0219
a0001c0001t0005g0207
a0001c0001t0007g0162
a0001c0001t0013g0069
a0001c0001t0014g0144
a0001c0001t0019g0223
a0001c0001t0021g0250
a0001c0001t0031g0321
a0001c0001t0065g0312
a0001c0001t0075g0023
a0001c0008t0021g0252
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0022g0181
a0002c0002t0043g0182
 22 HG00099.hp2
HG00438.hp1
HG00733.hp1
others(19): Show 
HG00099.hp2
HG00438.hp1
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01952.hp2
HG02300.hp2
HG02647.hp2
HG03130.hp2
HG03540.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
NA18967.hp2
NA18971.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21330C>T
c.970-21330C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281648
chr1:2281653 A
A
 AGACAGGC
others(294): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AG
 2 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0026
a0001c0001t0001g0029
 2 HG02004.hp2
NA18984.hp2
HG02004.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-21316_970-2131
others(305): Show 
c.970-21316_970-21315insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGC
GGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281653
chr1:2281653 A
A
 AGACAGGC
others(165): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0083g0231
a0001c0001t0083g0231
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21316_970-2131
others(176): Show 
c.970-21316_970-21315insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281653
chr1:2281653 A
A
 G
G
 10 a0001c0001t0001g0001
a0001c0001t0004g0009
a0001c0001t0004g0248
others(7): Show 
a0001c0001t0001g0001
a0001c0001t0004g0009
a0001c0001t0004g0248
a0001c0001t0006g0080
a0001c0001t0009g0095
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0010t0048g0052
 11 HG01257.hp2
HG01261.hp1
HG01515.hp2
others(8): Show 
HG01257.hp2
HG01261.hp1
HG01515.hp2
HG01517.hp2
HG02273.hp1
HG02572.hp2
HG02818.hp2
HG03579.hp1
HG03927.hp2
NA19068.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21325A>G
c.970-21325A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281653
chr1:2281658 G
G
 T
T
 5 a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0037
others(2): Show 
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0037
a0001c0001t0005g0089
a0001c0001t0008g0041
 5 HG01361.hp1
NA18979.hp1
NA18982.hp2
others(2): Show 
HG01361.hp1
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA19011.hp1
 intron_variant MODIFIER c.970-21320G>T
c.970-21320G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281658
chr1:2281660 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0002g0038
a0001c0001t0002g0038
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.970-21318_970-2131
others(27): Show 
c.970-21318_970-21317insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281660
chr1:2281660 C
C
 CGGCGGCG
others(274): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-21316_970-2131
others(285): Show 
c.970-21316_970-21315insCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281660
chr1:2281660 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0001g0314
a0001c0001t0001g0314
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.970-21315_970-2129
others(27): Show 
c.970-21315_970-21293dupTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281660
chr1:2281660 C
C
 CGGTGGCG
others(36): Show 
CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-21295_970-2129
others(47): Show 
c.970-21295_970-21294insAGACACGTGAGAAGACAGGTGGTGGC
GGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281660
chr1:2281660 C
C
 T
T
 12 a0001c0001t0001g0110
a0001c0001t0001g0166
a0001c0001t0002g0124
others(9): Show 
a0001c0001t0001g0110
a0001c0001t0001g0166
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0209
a0001c0001t0003g0246
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0018g0147
a0001c0001t0056g0315
a0001c0001t0065g0312
 12 HG01261.hp2
HG01975.hp2
HG02165.hp2
others(9): Show 
HG01261.hp2
HG01975.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02717.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
NA18947.hp1
NA19002.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-21318C>T
c.970-21318C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281660
chr1:2281661 G
G
 A
A
 4 a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0010g0092
others(1): Show 
a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0010g0092
a0001c0001t0013g0177
 4 HG01261.hp1
HG02572.hp1
HG03130.hp2
others(1): Show 
HG01261.hp1
HG02572.hp1
HG03130.hp2
NA18959.hp2
 intron_variant MODIFIER c.970-21317G>A
c.970-21317G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281661
chr1:2281663 T
T
 C
C
 58 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(55): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0080
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0015
a0001c0009t0004g0064
a0001c0010t0048g0052
a0002c0002t0002g0002
 59 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(56): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01891.hp1
HG01928.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02572.hp2
HG02698.hp1
HG02735.hp2
HG02818.hp2
HG02896.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03927.hp2
HG03942.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18984.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21315T>C
c.970-21315T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281663
chr1:2281663 T
T
 TGGCGGAG
others(295): Show 
TGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC
GGC
 1 a0001c0001t0003g0022
a0001c0001t0003g0022
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.970-21294_970-2129
others(306): Show 
c.970-21294_970-21293insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281663
chr1:2281666 C
C
 T
T
 7 a0001c0001t0001g0001
a0001c0001t0003g0143
a0001c0001t0004g0248
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0003g0143
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0207
a0001c0001t0013g0177
a0001c0001t0014g0070
 8 HG00733.hp2
HG01169.hp1
HG01257.hp2
others(5): Show 
HG00733.hp2
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01515.hp2
HG01517.hp2
HG02027.hp1
HG02273.hp1
 intron_variant MODIFIER c.970-21312C>T
c.970-21312C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281666
chr1:2281669 A
A
 AGATCTTC
others(37): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0003t0020g0014
a0001c0003t0020g0014
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.970-21294_970-2129
others(48): Show 
c.970-21294_970-21293insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281669
chr1:2281669 A
A
 C
C
 48 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(45): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0003t0020g0015
a0001c0010t0048g0052
a0002c0002t0002g0002
 49 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(46): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02572.hp2
HG02698.hp1
HG02735.hp2
HG02896.hp2
HG03209.hp1
HG03516.hp1
HG03669.hp1
HG03942.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21309A>C
c.970-21309A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281669
chr1:2281676 C
C
 CAG
CAG
 6 a0001c0001t0001g0166
a0001c0001t0003g0158
a0001c0001t0004g0025
others(3): Show 
a0001c0001t0001g0166
a0001c0001t0003g0158
a0001c0001t0004g0025
a0001c0001t0005g0153
a0001c0001t0007g0162
a0001c0001t0012g0155
 6 HG00733.hp2
HG01952.hp2
HG02300.hp2
others(3): Show 
HG00733.hp2
HG01952.hp2
HG02300.hp2
HG03831.hp2
NA18991.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21295_970-2129
others(6): Show 
c.970-21295_970-21294dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281676
chr1:2281678 G
G
 T
T
 4 a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0007g0061
others(1): Show 
a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0007g0061
a0001c0001t0014g0144
 4 HG01978.hp1
HG03130.hp2
HG04115.hp1
others(1): Show 
HG01978.hp1
HG03130.hp2
HG04115.hp1
NA18959.hp2
 intron_variant MODIFIER c.970-21300G>T
c.970-21300G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281678
chr1:2281678 GAGAGAGG
others(34): Show 
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
 G
G
 1 a0001c0001t0003g0032
a0001c0001t0003g0032
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.970-21293_970-2125
others(45): Show 
c.970-21293_970-21253delGACGCCCGAGAGGACAGGCGGTGGTG
GAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281678
chr1:2281683 A
A
 AGGACGCC
others(337): Show 
AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA
GACATGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGA
GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(348): Show 
c.970-21283_970-21282insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCG
AGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGAC
AGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGC
GGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTG
ATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCA
GAGAGCGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 A
A
 AGGACGCC
others(36): Show 
AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0004g0230
a0001c0001t0004g0230
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(47): Show 
c.970-21283_970-21282insAGACATGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 A
A
 C
C
 10 a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0004g0008
others(7): Show 
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0004g0008
a0001c0001t0004g0037
a0001c0001t0005g0089
a0001c0001t0008g0041
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0010t0048g0052
a0002c0002t0002g0002
 11 HG01256.hp1
HG01258.hp1
HG01361.hp1
others(8): Show 
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG02027.hp1
HG02572.hp2
HG03516.hp1
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA19011.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-21295A>C
c.970-21295A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281683
chr1:2281683 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 5 a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0007g0061
others(2): Show 
a0001c0001t0001g0271
a0001c0001t0003g0031
a0001c0001t0007g0061
a0001c0001t0050g0309
a0001c0001t0062g0257
 5 HG01978.hp1
HG02258.hp1
HG02622.hp2
others(2): Show 
HG01978.hp1
HG02258.hp1
HG02622.hp2
HG03130.hp2
NA18959.hp2
 intron_variant MODIFIER c.970-21292_970-2127
others(24): Show 
c.970-21292_970-21273delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 1 a0001c0001t0002g0203
a0001c0001t0002g0203
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.970-21292_970-2123
others(67): Show 
c.970-21292_970-21230delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 AGGACGCC
others(99): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGC
 A
A
 1 a0001c0001t0038g0212
a0001c0001t0038g0212
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.970-21292_970-2118
others(4): Show 
c.970-21292_970-21187del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 AGGACGCC
others(142): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 2 a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0005g0198
a0001c0001t0006g0065
 2 HG01257.hp1
HG02074.hp2
HG01257.hp1
HG02074.hp2
 intron_variant MODIFIER c.970-21292_970-2114
others(4): Show 
c.970-21292_970-21144del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281683 AGGACGCC
others(228): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
GGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 1 a0001c0001t0014g0144
a0001c0001t0014g0144
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.970-21292_970-2105
others(4): Show 
c.970-21292_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281683
chr1:2281684 G
G
 A
A
 13 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0314
others(10): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0314
a0001c0001t0002g0038
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0003g0209
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0084g0112
 13 HG00323.hp2
HG00673.hp1
HG01258.hp2
others(10): Show 
HG00323.hp2
HG00673.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG02896.hp1
HG03490.hp1
HG04204.hp2
NA18612.hp2
NA18942.hp2
NA18945.hp2
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21294G>A
c.970-21294G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281684
chr1:2281684 G
G
 GA
GA
 38 a0001c0001t0001g0030
a0001c0001t0001g0078
a0001c0001t0001g0148
others(35): Show 
a0001c0001t0001g0030
a0001c0001t0001g0078
a0001c0001t0001g0148
a0001c0001t0001g0299
a0001c0001t0002g0093
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0318
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0243
a0001c0001t0005g0206
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0008g0202
a0001c0001t0009g0100
a0001c0001t0009g0307
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0013g0069
a0001c0001t0016g0298
a0001c0001t0021g0316
a0001c0001t0026g0050
a0001c0001t0044g0292
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0069g0104
a0001c0001t0074g0192
a0001c0001t0079g0128
a0001c0001t0087g0168
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0011g0179
 38 HG00423.hp1
HG00642.hp2
HG01070.hp2
others(35): Show 
HG00423.hp1
HG00642.hp2
HG01070.hp2
HG01074.hp1
HG01169.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG02015.hp1
HG02055.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03688.hp2
HG03834.hp1
NA18522.hp2
NA18747.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18991.hp1
NA19030.hp2
NA19070.hp2
NA19081.hp1
NA19088.hp2
 intron_variant MODIFIER c.970-21294_970-2129
others(5): Show 
c.970-21294_970-21293insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281684
chr1:2281684 G
G
 GAGGATGC
others(1208): Show 
GAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGGTGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGATGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAG
ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGA
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-21294_970-2129
others(1219): Show 
c.970-21294_970-21293insAGGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGAGATCTTCAGAGAGAGAGATGCC
CGAGAAGACAGGCGGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGAGGATGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281684
chr1:2281684 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0001g0313
a0001c0001t0001g0313
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.970-21293_970-2129
others(27): Show 
c.970-21293_970-21292insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281684
chr1:2281687 C
C
 A
A
 6 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0146
others(3): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0002g0049
a0001c0001t0037g0012
a0001c0001t0077g0011
 6 HG02165.hp1
HG02698.hp1
HG03942.hp1
others(3): Show 
HG02165.hp1
HG02698.hp1
HG03942.hp1
NA19079.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-21291C>A
c.970-21291C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281687
chr1:2281687 C
C
 CGCCCGAG
others(79): Show 
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA
GAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(90): Show 
c.970-21283_970-21282insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281687
chr1:2281687 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0004g0114
a0001c0001t0004g0114
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-21283_970-2128
others(48): Show 
c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281687
chr1:2281687 C
C
 CGCCCGAG
others(35): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAT
 1 a0001c0001t0013g0079
a0001c0001t0013g0079
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(46): Show 
c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281687
chr1:2281687 C
C
 CGCCTGAG
others(79): Show 
CGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA
GAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-21288_970-2128
others(90): Show 
c.970-21288_970-21287insTGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281687
chr1:2281687 C
C
 T
T
 68 a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0029
others(65): Show 
a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0078
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0299
a0001c0001t0002g0093
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0003g0022
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0214
a0001c0001t0003g0243
a0001c0001t0004g0009
a0001c0001t0005g0206
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0305
a0001c0001t0008g0202
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0307
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0013g0069
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0017g0068
a0001c0001t0018g0149
a0001c0001t0021g0316
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0069g0104
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0079g0128
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0011g0179
 68 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(65): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01169.hp2
HG01243.hp2
HG01256.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18977.hp2
NA18984.hp2
NA18991.hp1
NA19030.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21291C>T
c.970-21291C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281687
chr1:2281688 G
G
 A
A
 15 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0313
others(12): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0076
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0209
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0084g0112
 15 HG00323.hp2
HG00673.hp1
HG00738.hp1
others(12): Show 
HG00323.hp2
HG00673.hp1
HG00738.hp1
HG00741.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03490.hp1
HG03516.hp2
NA18942.hp2
NA18945.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-21290G>A
c.970-21290G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281688
chr1:2281690 C
C
 G
G
 11 a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0313
others(8): Show 
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0076
a0001c0001t0003g0209
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0084g0112
 11 HG00323.hp2
HG00673.hp1
HG01258.hp2
others(8): Show 
HG00323.hp2
HG00673.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG02896.hp1
HG02897.hp2
HG03490.hp1
NA18942.hp2
NA18945.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-21288C>G
c.970-21288C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281690
chr1:2281691 C
C
 CGAGAAGA
others(446): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTT
CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAG
CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGT
 1 a0001c0001t0003g0044
a0001c0001t0003g0044
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(457): Show 
c.970-21283_970-21282insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAAGCCCG
AGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGAC
ATGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC
GGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCG
ATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCA
GAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGG
AGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281691
chr1:2281691 C
C
 CGAGAAGA
others(274): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0010g0047
a0001c0001t0010g0047
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.970-21283_970-2128
others(285): Show 
c.970-21283_970-21282insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGA
GGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC
TGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281691
chr1:2281691 C
C
 CGAGAAGA
others(320): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-21283_970-2128
others(331): Show 
c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCG
GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG
A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281691
chr1:2281691 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 3 a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0044g0292
a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0044g0292
 3 HG01243.hp2
NA19084.hp1
NA19084.hp2
HG01243.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21283_970-2128
others(70): Show 
c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281691
chr1:2281691 C
C
 T
T
 27 a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
others(24): Show 
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0209
a0001c0001t0004g0248
a0001c0001t0005g0199
a0001c0001t0008g0042
a0001c0001t0008g0193
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0015g0201
a0001c0001t0019g0233
a0001c0001t0024g0005
a0001c0001t0028g0055
a0001c0001t0054g0159
a0001c0001t0070g0074
a0001c0001t0084g0112
 27 HG00323.hp2
HG00673.hp1
HG00738.hp1
others(24): Show 
HG00323.hp2
HG00673.hp1
HG00738.hp1
HG00741.hp1
HG01081.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG01928.hp2
HG02074.hp1
HG02273.hp1
HG02559.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03139.hp2
HG03490.hp1
HG03516.hp2
NA18942.hp2
NA18945.hp2
NA18971.hp1
NA18980.hp1
NA19011.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21287C>T
c.970-21287C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281691
chr1:2281691 CGAGAGGA
others(251): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCT
 C
C
 1 a0001c0001t0002g0320
a0001c0001t0002g0320
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.970-21282_970-2102
others(4): Show 
c.970-21282_970-21025del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281691
chr1:2281696 G
G
 A
A
 237 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(234): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0015t0002g0185
a0003c0013t0032g0178
 238 HG00280.hp1
HG00323.hp2
HG00423.hp1
others(235): Show 
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21282G>A
c.970-21282G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281696
chr1:2281696 G
G
 GGACAGGC
others(59): Show 
GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAA
 1 a0001c0001t0004g0248
a0001c0001t0004g0248
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.970-21270_970-2126
others(70): Show 
c.970-21270_970-21269insCGGAGATCTTCATAGAGAGGTGGCGG
AGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281696
chr1:2281701 G
G
 T
T
 16 a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
others(13): Show 
a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0322
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0071g0024
 16 HG01099.hp2
HG02055.hp2
HG02109.hp1
others(13): Show 
HG01099.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02735.hp2
HG03209.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18998.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21277G>T
c.970-21277G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281701
chr1:2281703 C
C
 CGGCGGCG
others(403): Show 
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG
AGAGCGGACACCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGT
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.970-21273_970-2127
others(414): Show 
c.970-21273_970-21272insCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACA
GGTGGTGGCGGAGATCTTCAGAGAGCGGACACCCGAGAGGACAGGCGGCG
GCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGA
TCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281703
chr1:2281703 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.970-21270_970-2126
others(27): Show 
c.970-21270_970-21269insCGGAGATCTTCAGAGAGAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281703
chr1:2281703 C
C
 CGGTGGCG
others(38): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.970-21270_970-2126
others(49): Show 
c.970-21270_970-21269insCGGAGATCTTCAGAGAGAGAGGACGC
CCGAGAAGACAGGTGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281703
chr1:2281703 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-21270_970-2126
others(27): Show 
c.970-21270_970-21269insCGGAGATCTTCATAGAGAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281703
chr1:2281703 C
C
 T
T
 16 a0001c0001t0001g0195
a0001c0001t0001g0313
a0001c0001t0001g0314
others(13): Show 
a0001c0001t0001g0195
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0084
a0001c0001t0004g0025
a0001c0001t0005g0153
a0001c0001t0005g0199
a0001c0001t0007g0162
a0001c0001t0008g0193
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0015g0201
a0001c0001t0021g0250
a0001c0008t0021g0252
 16 HG00673.hp1
HG00733.hp1
HG00733.hp2
others(13): Show 
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01258.hp2
HG02074.hp1
HG02300.hp2
HG02896.hp1
HG02897.hp2
NA18942.hp2
NA18945.hp2
NA18980.hp1
NA18991.hp2
NA19011.hp2
NA19063.hp1
NA19065.hp2
 intron_variant MODIFIER c.970-21275C>T
c.970-21275C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281703
chr1:2281704 G
G
 A
A
 3 a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0024g0005
a0001c0001t0002g0093
a0001c0001t0004g0009
a0001c0001t0024g0005
 3 HG03471.hp2
HG03516.hp2
NA19068.hp2
HG03471.hp2
HG03516.hp2
NA19068.hp2
 intron_variant MODIFIER c.970-21274G>A
c.970-21274G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281704
chr1:2281706 T
T
 C
C
 66 a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0020
others(63): Show 
a0001c0001t0001g0001
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0003g0197
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0008g0041
a0001c0001t0008g0202
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0014g0229
a0001c0001t0018g0147
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0004t0002g0186
 67 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(64): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18991.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21272T>C
c.970-21272T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281706
chr1:2281709 T
T
 C
C
 259 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(256): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0002g0186
a0002c0015t0002g0185
 261 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(258): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21269T>C
c.970-21269T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281709
chr1:2281709 T
T
 TGGAGATC
others(59): Show 
TGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGCGGTGGC
 1 a0001c0001t0002g0075
a0001c0001t0002g0075
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.970-21258_970-2125
others(70): Show 
c.970-21258_970-21257insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281709
chr1:2281712 A
A
 AGATCTTC
others(166): Show 
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACA
CCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0088g0120
a0001c0001t0088g0120
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-21208_970-2120
others(177): Show 
c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281712
chr1:2281712 A
A
 AGATCTTC
others(533): Show 
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGA
GAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACA
GGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG
GCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.970-21258_970-2125
others(544): Show 
c.970-21258_970-21257insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA
GAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGAC
AGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGC
GGCGGCGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281712
chr1:2281712 A
A
 C
C
 51 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(48): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0014g0229
a0001c0001t0018g0147
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
 51 HG00280.hp1
HG00735.hp1
HG01099.hp2
others(48): Show 
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02165.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02886.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18998.hp1
NA19002.hp1
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21266A>C
c.970-21266A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281712
chr1:2281712 A
A
 T
T
 8 a0001c0001t0002g0036
a0001c0001t0003g0116
a0001c0001t0004g0008
others(5): Show 
a0001c0001t0002g0036
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0037
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0008g0041
a0001c0001t0035g0261
 8 HG00099.hp1
HG01361.hp1
HG02155.hp1
others(5): Show 
HG00099.hp1
HG01361.hp1
HG02155.hp1
HG02818.hp1
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA19011.hp1
 intron_variant MODIFIER c.970-21266A>T
c.970-21266A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281712
chr1:2281713 G
G
 A
A
 1 a0001c0001t0004g0017
a0001c0001t0004g0017
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.970-21265G>A
c.970-21265G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281713
chr1:2281719 C
C
 CAG
CAG
 4 a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0004g0134
others(1): Show 
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0004g0134
a0001c0001t0005g0157
 4 HG01081.hp1
HG01978.hp2
HG02273.hp2
others(1): Show 
HG01081.hp1
HG01978.hp2
HG02273.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-21252_970-2125
others(6): Show 
c.970-21252_970-21251dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281719
chr1:2281721 G
G
 T
T
 3 a0001c0001t0005g0066
a0001c0001t0010g0047
a0001c0001t0013g0177
a0001c0001t0005g0066
a0001c0001t0010g0047
a0001c0001t0013g0177
 3 HG00621.hp1
HG01261.hp1
HG01346.hp2
HG00621.hp1
HG01261.hp1
HG01346.hp2
 intron_variant MODIFIER c.970-21257G>T
c.970-21257G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281721
chr1:2281726 A
A
 C
C
 23 a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
others(20): Show 
a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0035g0261
a0001c0001t0042g0319
a0001c0001t0071g0024
 23 HG00099.hp1
HG01361.hp1
HG02055.hp2
others(20): Show 
HG00099.hp1
HG01361.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02818.hp1
HG02818.hp2
HG03516.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA18998.hp1
NA19002.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21252A>C
c.970-21252A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281726
chr1:2281726 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0009g0296
a0001c0001t0013g0177
a0001c0001t0009g0296
a0001c0001t0013g0177
 2 HG01099.hp1
HG01261.hp1
HG01099.hp1
HG01261.hp1
 intron_variant MODIFIER c.970-21249_970-2123
others(24): Show 
c.970-21249_970-21230delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281726
chr1:2281726 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 2 a0001c0001t0064g0311
a0001c0001t0074g0192
a0001c0001t0064g0311
a0001c0001t0074g0192
 2 HG00423.hp1
HG03704.hp1
HG00423.hp1
HG03704.hp1
 intron_variant MODIFIER c.970-21249_970-2118
others(67): Show 
c.970-21249_970-21187delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281726
chr1:2281727 G
G
 A
A
 17 a0001c0001t0001g0078
a0001c0001t0001g0271
a0001c0001t0002g0301
others(14): Show 
a0001c0001t0001g0078
a0001c0001t0001g0271
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0031
a0001c0001t0003g0063
a0001c0001t0004g0218
a0001c0001t0006g0150
a0001c0001t0007g0061
a0001c0001t0008g0111
a0001c0001t0012g0067
a0001c0001t0014g0070
a0001c0001t0022g0303
a0001c0001t0050g0309
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0003t0001g0170
 17 HG00438.hp2
HG00738.hp2
HG01257.hp2
others(14): Show 
HG00438.hp2
HG00738.hp2
HG01257.hp2
HG01978.hp1
HG02258.hp1
HG02559.hp1
HG02622.hp2
HG02723.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03834.hp2
HG04184.hp1
HG04184.hp2
NA18906.hp2
NA18959.hp2
NA18967.hp1
 intron_variant MODIFIER c.970-21251G>A
c.970-21251G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281727
chr1:2281727 G
G
 GA
GA
 32 a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0242
others(29): Show 
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0204
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0246
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0253
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0136
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0030g0054
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0080g0043
a0001c0003t0007g0171
a0001c0006t0040g0053
a0001c0011t0039g0071
 32 HG00544.hp2
HG00738.hp1
HG00741.hp1
others(29): Show 
HG00544.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01109.hp1
HG01346.hp1
HG01346.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG04204.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18962.hp2
NA18971.hp1
NA18983.hp1
NA19000.hp1
NA19043.hp1
NA19066.hp2
NA19080.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21251_970-2125
others(5): Show 
c.970-21251_970-21250insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281727
chr1:2281730 C
C
 A
A
 4 a0001c0001t0002g0222
a0001c0001t0005g0221
a0001c0001t0005g0227
others(1): Show 
a0001c0001t0002g0222
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0007g0086
 4 HG00280.hp1
HG00735.hp1
HG01123.hp1
others(1): Show 
HG00280.hp1
HG00735.hp1
HG01123.hp1
HG01928.hp1
 intron_variant MODIFIER c.970-21248C>A
c.970-21248C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281730
chr1:2281730 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-21245_970-2124
others(48): Show 
c.970-21245_970-21244insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281730
chr1:2281730 C
C
 T
T
 53 a0001c0001t0001g0001
a0001c0001t0001g0110
a0001c0001t0001g0148
others(50): Show 
a0001c0001t0001g0001
a0001c0001t0001g0110
a0001c0001t0001g0148
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0318
a0001c0001t0003g0045
a0001c0001t0003g0204
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0218
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0140
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0030g0054
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0003t0007g0171
a0001c0006t0040g0053
a0001c0009t0004g0064
a0001c0011t0039g0071
 54 HG00438.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00438.hp1
HG00544.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01109.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18962.hp2
NA18971.hp1
NA18983.hp1
NA18991.hp1
NA18998.hp2
NA19000.hp1
NA19043.hp1
NA19062.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19080.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20752.hp2
 intron_variant MODIFIER c.970-21248C>T
c.970-21248C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281730
chr1:2281731 G
G
 A
A
 10 a0001c0001t0001g0078
a0001c0001t0002g0301
a0001c0001t0003g0063
others(7): Show 
a0001c0001t0001g0078
a0001c0001t0002g0301
a0001c0001t0003g0063
a0001c0001t0007g0061
a0001c0001t0008g0111
a0001c0001t0012g0067
a0001c0001t0014g0070
a0001c0001t0050g0309
a0001c0001t0058g0297
a0001c0001t0062g0257
 10 HG00438.hp2
HG00738.hp2
HG01257.hp2
others(7): Show 
HG00438.hp2
HG00738.hp2
HG01257.hp2
HG01978.hp1
HG02258.hp1
HG02559.hp1
HG02622.hp2
HG02723.hp1
HG04184.hp2
NA18967.hp1
 intron_variant MODIFIER c.970-21247G>A
c.970-21247G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281731
chr1:2281733 C
C
 G
G
 10 a0001c0001t0001g0078
a0001c0001t0002g0301
a0001c0001t0003g0063
others(7): Show 
a0001c0001t0001g0078
a0001c0001t0002g0301
a0001c0001t0003g0063
a0001c0001t0007g0061
a0001c0001t0008g0111
a0001c0001t0012g0067
a0001c0001t0014g0070
a0001c0001t0050g0309
a0001c0001t0058g0297
a0001c0001t0062g0257
 10 HG00438.hp2
HG00738.hp2
HG01257.hp2
others(7): Show 
HG00438.hp2
HG00738.hp2
HG01257.hp2
HG01978.hp1
HG02258.hp1
HG02559.hp1
HG02622.hp2
HG02723.hp1
HG04184.hp2
NA18967.hp1
 intron_variant MODIFIER c.970-21245C>G
c.970-21245C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281733
chr1:2281734 C
C
 CGAGAAGA
others(361): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGT
 1 a0001c0001t0007g0098
a0001c0001t0007g0098
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.970-21230_970-2122
others(372): Show 
c.970-21230_970-21229insCGGCGGCGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281734
chr1:2281734 C
C
 T
T
 26 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0078
others(23): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0078
a0001c0001t0002g0084
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0063
a0001c0001t0003g0130
a0001c0001t0004g0009
a0001c0001t0006g0080
a0001c0001t0007g0061
a0001c0001t0008g0111
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0012g0067
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0001t0083g0231
a0001c0001t0085g0263
a0002c0004t0001g0188
a0003c0013t0032g0178
 26 HG00280.hp2
HG00438.hp2
HG00738.hp2
others(23): Show 
HG00280.hp2
HG00438.hp2
HG00738.hp2
HG01257.hp2
HG01978.hp1
HG02004.hp2
HG02074.hp1
HG02258.hp1
HG02300.hp1
HG02559.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp2
HG03654.hp2
HG03927.hp2
HG04184.hp2
NA18967.hp1
NA18967.hp2
NA18977.hp2
NA18980.hp1
NA18984.hp2
NA19002.hp1
NA19011.hp2
NA19068.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21244C>T
c.970-21244C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281734
chr1:2281739 A
A
 AGACAGGC
others(102): Show 
AGACAGGCGGCGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA
GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
AGCCCGAGAG
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.970-21230_970-2122
others(113): Show 
c.970-21230_970-21229insCGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGAAGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281739
chr1:2281739 A
A
 AGACAGGC
others(360): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG
GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG
AGAGCGGACGCCCGAGAG
 1 a0001c0001t0010g0048
a0001c0001t0010g0048
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-21230_970-2122
others(371): Show 
c.970-21230_970-21229insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTG
GCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281739
chr1:2281739 A
A
 G
G
 33 a0001c0001t0001g0001
a0001c0001t0001g0035
a0001c0001t0001g0152
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0143
a0001c0001t0004g0008
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0005g0089
a0001c0001t0005g0228
a0001c0001t0006g0211
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0042g0319
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0010t0048g0052
a0001c0012t0011g0266
 35 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(32): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG02027.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02572.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp2
HG02976.hp2
HG03516.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA18998.hp1
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19079.hp1
NA20129.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21239A>G
c.970-21239A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281739
chr1:2281744 G
G
 T
T
 9 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0004g0260
a0001c0001t0037g0012
a0001c0001t0077g0011
a0001c0003t0020g0015
 9 HG01891.hp1
HG02165.hp1
HG02698.hp1
others(6): Show 
HG01891.hp1
HG02165.hp1
HG02698.hp1
HG03942.hp1
NA18612.hp2
NA19079.hp2
NA19088.hp1
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21234G>T
c.970-21234G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281744
chr1:2281746 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0005g0207
a0001c0001t0005g0207
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.970-21232_970-2123
others(27): Show 
c.970-21232_970-21231insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281746
chr1:2281746 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-21229_970-2120
others(27): Show 
c.970-21229_970-21207dupTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281746
chr1:2281746 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0001t0008g0196
a0001c0001t0008g0196
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.970-21208_970-2120
others(114): Show 
c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281746
chr1:2281746 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0017g0068
a0001c0001t0083g0231
a0001c0001t0017g0068
a0001c0001t0083g0231
 2 HG02896.hp2
homoSapiens_chm13v2.hp1
HG02896.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21215_970-2121
others(27): Show 
c.970-21215_970-21214insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281746
chr1:2281746 C
C
 T
T
 6 a0001c0001t0001g0141
a0001c0001t0004g0248
a0001c0001t0008g0111
others(3): Show 
a0001c0001t0001g0141
a0001c0001t0004g0248
a0001c0001t0008g0111
a0001c0001t0010g0047
a0001c0001t0014g0070
a0001c0001t0054g0159
 6 HG00438.hp2
HG00621.hp1
HG01257.hp2
others(3): Show 
HG00438.hp2
HG00621.hp1
HG01257.hp2
HG01928.hp2
HG01978.hp2
HG02273.hp1
 intron_variant MODIFIER c.970-21232C>T
c.970-21232C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281746
chr1:2281747 G
G
 A
A
 2 a0001c0001t0003g0127
a0001c0001t0004g0114
a0001c0001t0003g0127
a0001c0001t0004g0114
 2 NA18954.hp1
NA19091.hp2
NA18954.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-21231G>A
c.970-21231G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281747
chr1:2281747 G
G
 GGTGGCGG
others(37): Show 
GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCA
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-21208_970-2120
others(48): Show 
c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCAGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281747
chr1:2281749 T
T
 C
C
 61 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(58): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0048
a0001c0001t0012g0194
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0012t0011g0266
 61 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(58): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18995.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21229T>C
c.970-21229T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281749
chr1:2281752 C
C
 T
T
 7 a0001c0001t0001g0001
a0001c0001t0001g0110
a0001c0001t0002g0075
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0001g0110
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0124
a0001c0001t0003g0045
a0001c0001t0075g0023
 8 HG00099.hp2
HG00323.hp2
HG00438.hp1
others(5): Show 
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG01515.hp2
HG01517.hp2
HG01975.hp2
HG02165.hp2
NA19062.hp1
 intron_variant MODIFIER c.970-21226C>T
c.970-21226C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281752
chr1:2281752 CGGAGATC
others(79): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
 C
C
 5 a0001c0001t0001g0283
a0001c0001t0002g0081
a0001c0001t0006g0300
others(2): Show 
a0001c0001t0001g0283
a0001c0001t0002g0081
a0001c0001t0006g0300
a0001c0001t0008g0202
a0001c0001t0087g0168
 5 HG01074.hp1
HG02976.hp1
NA18961.hp1
others(2): Show 
HG01074.hp1
HG02976.hp1
NA18961.hp1
NA18991.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-21140_970-2105
others(90): Show 
c.970-21140_970-21055delTGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGA
CAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281752
chr1:2281755 A
A
 AGATCTTC
others(102): Show 
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGCGGCGGC
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-21215_970-2121
others(113): Show 
c.970-21215_970-21214insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281755
chr1:2281755 A
A
 C
C
 39 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
others(36): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0004g0037
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0232
a0001c0001t0007g0086
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0069g0104
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0003t0020g0015
 39 HG00099.hp1
HG00280.hp1
HG00735.hp1
others(36): Show 
HG00099.hp1
HG00280.hp1
HG00735.hp1
HG01099.hp2
HG01123.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp2
HG03041.hp2
HG03209.hp1
HG03453.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18979.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21223A>C
c.970-21223A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281755
chr1:2281755 A
A
 T
T
 12 a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
others(9): Show 
a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0005g0228
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0071g0024
 12 HG02055.hp2
HG02109.hp1
HG03669.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18998.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21223A>T
c.970-21223A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281755
chr1:2281762 C
C
 CAG
CAG
 6 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0165
others(3): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0165
a0001c0001t0003g0022
a0001c0001t0004g0025
a0001c0001t0004g0134
 6 HG01081.hp1
HG02004.hp2
HG02735.hp2
others(3): Show 
HG01081.hp1
HG02004.hp2
HG02735.hp2
NA18977.hp2
NA18984.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21209_970-2120
others(6): Show 
c.970-21209_970-21208dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281762
chr1:2281764 G
G
 GAGAGAGG
others(36): Show 
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAT
 1 a0001c0001t0003g0046
a0001c0001t0003g0046
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-21202_970-2120
others(47): Show 
c.970-21202_970-21201insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281764
chr1:2281764 G
G
 T
T
 8 a0001c0001t0002g0076
a0001c0001t0003g0130
a0001c0001t0004g0009
others(5): Show 
a0001c0001t0002g0076
a0001c0001t0003g0130
a0001c0001t0004g0009
a0001c0001t0006g0080
a0001c0001t0016g0267
a0001c0001t0018g0147
a0001c0001t0051g0276
a0001c0012t0011g0266
 8 HG00323.hp2
HG02723.hp2
HG02976.hp2
others(5): Show 
HG00323.hp2
HG02723.hp2
HG02976.hp2
HG03927.hp2
NA18967.hp2
NA19002.hp1
NA19068.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21214G>T
c.970-21214G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281764
chr1:2281764 GAGAGAGG
others(120): Show 
GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTC
 G
G
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.970-21207_970-2108
others(4): Show 
c.970-21207_970-21081del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281764
chr1:2281769 A
A
 C
C
 30 a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
others(27): Show 
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0322
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0010g0047
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0071g0024
a0001c0001t0077g0011
 30 HG00099.hp1
HG00621.hp1
HG01123.hp1
others(27): Show 
HG00099.hp1
HG00621.hp1
HG01123.hp1
HG01928.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02698.hp1
HG02818.hp2
HG03209.hp1
HG03669.hp1
HG03942.hp1
NA18612.hp2
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18979.hp1
NA18998.hp1
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21209A>C
c.970-21209A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281769
chr1:2281769 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 5 a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0003g0246
others(2): Show 
a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0003g0246
a0001c0001t0004g0009
a0001c0001t0008g0239
 5 HG00323.hp2
HG00544.hp2
NA18947.hp1
others(2): Show 
HG00323.hp2
HG00544.hp2
NA18947.hp1
NA19068.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21206_970-2118
others(24): Show 
c.970-21206_970-21187delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281769
chr1:2281769 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGC
 A
A
 1 a0001c0001t0006g0080
a0001c0001t0006g0080
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.970-21206_970-2114
others(67): Show 
c.970-21206_970-21144delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281769
chr1:2281769 AGGACGCC
others(99): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGC
 A
A
 1 a0001c0001t0003g0204
a0001c0001t0003g0204
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.970-21206_970-2110
others(4): Show 
c.970-21206_970-21101del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281769
chr1:2281769 AGGACGCC
others(142): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
 A
A
 2 a0001c0001t0016g0267
a0001c0012t0011g0266
a0001c0001t0016g0267
a0001c0012t0011g0266
 2 HG02723.hp2
HG02976.hp2
HG02723.hp2
HG02976.hp2
 intron_variant MODIFIER c.970-21206_970-2105
others(4): Show 
c.970-21206_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281769
chr1:2281769 AGGACGCC
others(573): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-21206_970-2062
others(4): Show 
c.970-21206_970-20627del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281769
chr1:2281770 G
G
 A
A
 12 a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
others(9): Show 
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0003g0063
a0001c0001t0005g0207
a0001c0001t0007g0061
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0019g0249
a0001c0001t0082g0156
a0001c0001t0083g0231
 12 HG00423.hp2
HG00735.hp2
HG01169.hp1
others(9): Show 
HG00423.hp2
HG00735.hp2
HG01169.hp1
HG01261.hp1
HG01884.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
NA18612.hp1
NA18967.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21208G>A
c.970-21208G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281770
chr1:2281770 G
G
 GA
GA
 33 a0001c0001t0001g0110
a0001c0001t0001g0304
a0001c0001t0002g0093
others(30): Show 
a0001c0001t0001g0110
a0001c0001t0001g0304
a0001c0001t0002g0093
a0001c0001t0002g0124
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0234
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0006g0211
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0012g0160
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0019g0223
a0001c0001t0027g0245
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0056g0315
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0009t0004g0064
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 33 HG00609.hp1
HG00741.hp2
HG01243.hp1
others(30): Show 
HG00609.hp1
HG00741.hp2
HG01243.hp1
HG01243.hp2
HG01361.hp1
HG01952.hp1
HG01975.hp2
HG02145.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG03098.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03654.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18962.hp2
NA18998.hp2
NA19007.hp2
NA19067.hp2
NA19074.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-21208_970-2120
others(5): Show 
c.970-21208_970-21207insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281770
chr1:2281770 G
G
 GAGATGCC
others(38): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0002c0002t0055g0183
a0002c0002t0055g0183
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.970-21208_970-2120
others(49): Show 
c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281770
chr1:2281770 G
G
 GGACGCCC
others(37): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.970-21165_970-2116
others(48): Show 
c.970-21165_970-21164insAGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281770
chr1:2281770 GGACGCCC
others(78): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.970-21206_970-2112
others(89): Show 
c.970-21206_970-21122delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT
CAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281770
chr1:2281773 C
C
 A
A
 8 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
others(5): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0005g0232
a0001c0001t0014g0070
a0001c0001t0028g0055
 8 HG01099.hp2
HG01257.hp2
NA18946.hp2
others(5): Show 
HG01099.hp2
HG01257.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA19007.hp1
NA19082.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21205C>A
c.970-21205C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281773
chr1:2281773 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0018g0028
a0001c0001t0018g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.970-21165_970-2116
others(48): Show 
c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281773
chr1:2281773 C
C
 CGCCCGAG
others(212): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGTGGTGGCGG
AGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-21165_970-2116
others(223): Show 
c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGAGATGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGA
GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281773
chr1:2281773 C
C
 T
T
 56 a0001c0001t0001g0110
a0001c0001t0001g0254
a0001c0001t0001g0304
others(53): Show 
a0001c0001t0001g0110
a0001c0001t0001g0254
a0001c0001t0001g0304
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0124
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0234
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0008
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0268
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0019g0223
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0056g0315
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0001t0075g0023
a0001c0008t0021g0252
a0001c0009t0004g0064
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
 56 HG00438.hp1
HG00609.hp1
HG00642.hp1
others(53): Show 
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01243.hp1
HG01243.hp2
HG01361.hp1
HG01517.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG02074.hp1
HG02145.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG03098.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18948.hp1
NA18962.hp2
NA18980.hp1
NA18982.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp2
NA19007.hp2
NA19067.hp2
NA19074.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-21205C>T
c.970-21205C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281773
chr1:2281774 G
G
 A
A
 10 a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
others(7): Show 
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0003g0063
a0001c0001t0007g0061
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0082g0156
a0001c0001t0083g0231
 10 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(7): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG01884.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
NA18612.hp1
NA18967.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21204G>A
c.970-21204G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281774
chr1:2281776 C
C
 G
G
 10 a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
others(7): Show 
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0003g0063
a0001c0001t0007g0061
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0082g0156
a0001c0001t0083g0231
 10 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(7): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG01884.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
NA18612.hp1
NA18967.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21202C>G
c.970-21202C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281776
chr1:2281777 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0012g0160
a0001c0001t0012g0160
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.970-21164_970-2116
others(70): Show 
c.970-21164_970-21163insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281777
chr1:2281777 C
C
 CGAGAGGA
others(188): Show 
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-21197_970-2119
others(199): Show 
c.970-21197_970-21196insGGACAGGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG
AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281777
chr1:2281777 C
C
 T
T
 22 a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0002g0123
others(19): Show 
a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0005g0157
a0001c0001t0006g0131
a0001c0001t0007g0061
a0001c0001t0010g0164
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0023g0139
a0001c0001t0031g0321
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0002c0004t0001g0188
 23 HG00423.hp2
HG00735.hp2
HG01074.hp2
others(20): Show 
HG00423.hp2
HG00735.hp2
HG01074.hp2
HG01261.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp2
HG02273.hp2
HG02300.hp1
HG03710.hp2
HG03927.hp1
NA18612.hp1
NA18967.hp1
NA18982.hp1
NA19011.hp2
NA19062.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21201C>T
c.970-21201C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281777
chr1:2281777 CGAGAAGA
others(165): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0016g0298
a0001c0001t0016g0298
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.970-21153_970-2098
others(4): Show 
c.970-21153_970-20982del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281777
chr1:2281782 A
A
 AGACATGC
others(36): Show 
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0002g0222
a0001c0001t0002g0222
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.970-21192_970-2119
others(47): Show 
c.970-21192_970-21191insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281782
chr1:2281782 A
A
 G
G
 35 a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
others(32): Show 
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0265
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0077g0011
 35 HG00099.hp1
HG00438.hp1
HG00621.hp1
others(32): Show 
HG00099.hp1
HG00438.hp1
HG00621.hp1
HG01123.hp1
HG01928.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02630.hp2
HG02698.hp1
HG02818.hp2
HG03516.hp1
HG03669.hp1
HG03942.hp1
NA18612.hp2
NA18940.hp1
NA18942.hp1
NA18948.hp2
NA18964.hp2
NA18979.hp1
NA18982.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp1
NA19088.hp1
NA19091.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-21196A>G
c.970-21196A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281782
chr1:2281782 AGACAGGC
others(122): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG
CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAG
 A
A
 2 a0001c0001t0011g0003
a0001c0001t0085g0263
a0001c0001t0011g0003
a0001c0001t0085g0263
 3 HG00280.hp2
NA19043.hp2
NA20129.hp1
HG00280.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-21158_970-2103
others(4): Show 
c.970-21158_970-21030del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281782
chr1:2281787 G
G
 GGTGGTGG
others(16): Show 
GGTGGTGGCGGAGATCTTCATAGA
 3 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0003g0022
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0003g0022
 3 HG02004.hp2
NA18977.hp2
NA18984.hp2
HG02004.hp2
NA18977.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-21190_970-2118
others(27): Show 
c.970-21190_970-21189insTGGTGGCGGAGATCTTCATAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281787
chr1:2281787 G
G
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.970-21191G>T
c.970-21191G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281787
chr1:2281789 C
C
 A
A
 3 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0003g0022
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0003g0022
 3 HG02004.hp2
NA18977.hp2
NA18984.hp2
HG02004.hp2
NA18977.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-21189C>A
c.970-21189C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281789
chr1:2281789 C
C
 CGGCGGCG
others(145): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGA
 1 a0001c0001t0007g0086
a0001c0001t0007g0086
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.970-21187_970-2118
others(156): Show 
c.970-21187_970-21186insCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281789
chr1:2281789 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-21172_970-2117
others(27): Show 
c.970-21172_970-21171insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281789
chr1:2281789 C
C
 T
T
 8 a0001c0001t0002g0203
a0001c0001t0003g0046
a0001c0001t0003g0130
others(5): Show 
a0001c0001t0002g0203
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0004g0025
a0001c0001t0004g0134
a0001c0001t0010g0048
a0001c0001t0018g0147
a0001c0001t0082g0156
 8 HG01981.hp2
HG02735.hp2
NA18612.hp1
others(5): Show 
HG01981.hp2
HG02735.hp2
NA18612.hp1
NA18967.hp2
NA19002.hp1
NA19063.hp1
NA19063.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-21189C>T
c.970-21189C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281789
chr1:2281790 G
G
 A
A
 3 a0001c0001t0002g0093
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0002g0093
a0001c0001t0003g0116
a0001c0001t0004g0008
 3 HG03471.hp2
NA18982.hp2
NA18995.hp2
HG03471.hp2
NA18982.hp2
NA18995.hp2
 intron_variant MODIFIER c.970-21188G>A
c.970-21188G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281790
chr1:2281792 T
T
 C
C
 61 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(58): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0001g0271
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0310
a0001c0001t0008g0041
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0011g0265
a0001c0001t0013g0060
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0047g0293
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0009t0004g0064
a0002c0002t0002g0189
 61 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(58): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00621.hp1
HG01099.hp2
HG01123.hp1
HG01257.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp2
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18979.hp1
NA18980.hp1
NA18998.hp1
NA18998.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21186T>C
c.970-21186T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281792
chr1:2281795 C
C
 T
T
 7 a0001c0001t0001g0254
a0001c0001t0003g0116
a0001c0001t0004g0008
others(4): Show 
a0001c0001t0001g0254
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0008g0111
a0001c0001t0015g0236
a0001c0001t0029g0056
a0001c0001t0034g0190
 7 HG00438.hp2
HG01981.hp1
HG03516.hp1
others(4): Show 
HG00438.hp2
HG01981.hp1
HG03516.hp1
HG04204.hp2
HG06807.hp1
NA18982.hp2
NA18995.hp2
 intron_variant MODIFIER c.970-21183C>T
c.970-21183C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281795
chr1:2281795 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT
 C
C
 10 a0001c0001t0002g0154
a0001c0001t0003g0062
a0001c0001t0008g0210
others(7): Show 
a0001c0001t0002g0154
a0001c0001t0003g0062
a0001c0001t0008g0210
a0001c0001t0010g0208
a0001c0001t0016g0317
a0001c0001t0027g0245
a0001c0001t0057g0288
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
 10 HG00544.hp1
HG00642.hp2
HG01243.hp1
others(7): Show 
HG00544.hp1
HG00642.hp2
HG01243.hp1
HG02647.hp2
HG03540.hp1
NA18906.hp1
NA18950.hp1
NA18995.hp1
NA19066.hp2
NA19074.hp2
 intron_variant MODIFIER c.970-21153_970-2111
others(47): Show 
c.970-21153_970-21111delGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281795
chr1:2281798 A
A
 AGATCTTC
others(102): Show 
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
AGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG
CGGCGGCGGC
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-21172_970-2117
others(113): Show 
c.970-21172_970-21171insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281798
chr1:2281798 A
A
 C
C
 30 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
others(27): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0235
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0011g0265
a0001c0001t0013g0060
a0001c0001t0014g0229
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0003t0020g0015
 30 HG00280.hp1
HG01361.hp1
HG01361.hp2
others(27): Show 
HG00280.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG03710.hp1
NA18747.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19057.hp1
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21180A>C
c.970-21180A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281798
chr1:2281798 A
A
 T
T
 8 a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0205
others(5): Show 
a0001c0001t0001g0018
a0001c0001t0001g0135
a0001c0001t0001g0205
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0232
 8 HG01099.hp2
HG01123.hp1
HG01928.hp1
others(5): Show 
HG01099.hp2
HG01123.hp1
HG01928.hp1
HG02165.hp1
HG02698.hp1
NA18612.hp2
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21180A>T
c.970-21180A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281798
chr1:2281805 C
C
 CAG
CAG
 5 a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0013
others(2): Show 
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0013
a0001c0001t0008g0111
a0001c0001t0010g0164
 5 HG00438.hp2
HG01952.hp2
HG02027.hp2
others(2): Show 
HG00438.hp2
HG01952.hp2
HG02027.hp2
NA18990.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-21166_970-2116
others(6): Show 
c.970-21166_970-21165dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281805
chr1:2281807 G
G
 T
T
 4 a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0002g0101
others(1): Show 
a0001c0001t0001g0001
a0001c0001t0001g0119
a0001c0001t0002g0101
a0001c0001t0006g0131
 5 HG01515.hp2
HG01517.hp2
HG02071.hp2
others(2): Show 
HG01515.hp2
HG01517.hp2
HG02071.hp2
HG03710.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-21171G>T
c.970-21171G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281807
chr1:2281807 GAGAGAGG
others(34): Show 
GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC
 G
G
 1 a0001c0001t0003g0032
a0001c0001t0003g0032
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.970-21164_970-2112
others(45): Show 
c.970-21164_970-21124delGACGCCCGAGAGGACAGGCGGTGGTG
GAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281807
chr1:2281812 A
A
 AGAGATGC
others(166): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGTGATCTTCAGAGAGC
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.970-21165_970-2116
others(177): Show 
c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 AGAGATGC
others(166): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGTGATCTTCAGAGAGC
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.970-21165_970-2116
others(177): Show 
c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 AGGACGCC
others(208): Show 
AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGC
GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GTGATCTTCAGAGAGC
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.970-21154_970-2115
others(219): Show 
c.970-21154_970-21153insAGACATGCGGCGGCGGCGATCTTCAG
AGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG
AAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCG
AGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGAC
AGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 AGGACGCC
others(79): Show 
AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGC
 1 a0001c0001t0004g0017
a0001c0001t0004g0017
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.970-21154_970-2115
others(90): Show 
c.970-21154_970-21153insAGACATGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGG
ACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 AGGACGCC
others(122): Show 
AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGC
CCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0005g0232
a0001c0001t0005g0232
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.970-21154_970-2115
others(133): Show 
c.970-21154_970-21153insAGACATGCGGCGGCGGCGATCTTCAG
AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGG
ACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCG
AGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 AGGACGCC
others(36): Show 
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGC
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-21159_970-2115
others(47): Show 
c.970-21159_970-21158insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGCGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 A
A
 C
C
 24 a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
others(21): Show 
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0009g0095
a0001c0001t0014g0229
a0001c0001t0018g0147
a0001c0001t0042g0319
a0001c0001t0071g0024
a0001c0003t0020g0015
 24 HG00280.hp1
HG01123.hp1
HG01891.hp1
others(21): Show 
HG00280.hp1
HG01123.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02055.hp2
HG02109.hp1
HG02165.hp1
HG02698.hp1
HG02735.hp2
HG02818.hp2
NA18612.hp2
NA18942.hp1
NA18948.hp2
NA18967.hp2
NA18998.hp1
NA19002.hp1
NA19002.hp2
NA19057.hp1
NA19063.hp2
NA19079.hp1
NA19091.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21166A>C
c.970-21166A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281812
chr1:2281812 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 3 a0001c0001t0001g0119
a0001c0001t0002g0101
a0001c0001t0065g0312
a0001c0001t0001g0119
a0001c0001t0002g0101
a0001c0001t0065g0312
 3 HG03710.hp2
HG03942.hp2
NA20300.hp1
HG03710.hp2
HG03942.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-21163_970-2114
others(24): Show 
c.970-21163_970-21144delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 1 a0001c0001t0009g0307
a0001c0001t0009g0307
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-21163_970-2110
others(67): Show 
c.970-21163_970-21101delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 AGGACGCC
others(99): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGC
 A
A
 1 a0001c0001t0006g0131
a0001c0001t0006g0131
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.970-21163_970-2105
others(4): Show 
c.970-21163_970-21058del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281812 AGGACGCC
others(142): Show 
AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
 A
A
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.970-21163_970-2101
others(4): Show 
c.970-21163_970-21015del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281812
chr1:2281813 G
G
 A
A
 16 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
others(13): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0246
a0001c0001t0004g0009
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0019g0233
a0001c0001t0038g0212
a0001c0001t0074g0192
 16 HG00323.hp2
HG00423.hp1
HG00544.hp2
others(13): Show 
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01978.hp1
HG02004.hp2
HG02155.hp2
HG02922.hp1
NA18947.hp1
NA18977.hp2
NA18984.hp2
NA19062.hp1
NA19068.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21165G>A
c.970-21165G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281813
chr1:2281813 G
G
 GA
GA
 47 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0195
others(44): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0003g0031
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0199
a0001c0001t0006g0226
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0009g0100
a0001c0001t0015g0201
a0001c0001t0018g0149
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0030g0054
a0001c0001t0035g0261
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0084g0112
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0005t0003g0137
 47 HG00621.hp2
HG00673.hp1
HG01081.hp2
others(44): Show 
HG00621.hp2
HG00673.hp1
HG01081.hp2
HG01109.hp2
HG01256.hp2
HG01258.hp2
HG01884.hp1
HG01993.hp1
HG02258.hp1
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18954.hp2
NA18959.hp2
NA18983.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21165_970-2116
others(5): Show 
c.970-21165_970-21164insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281813
chr1:2281813 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 2 a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0056g0315
a0001c0001t0072g0200
 2 HG02717.hp2
NA18962.hp2
HG02717.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-21164_970-2116
others(27): Show 
c.970-21164_970-21163insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281813
chr1:2281813 GGACGCCC
others(35): Show 
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA
 G
G
 3 a0001c0001t0001g0304
a0001c0001t0007g0281
a0001c0001t0059g0244
a0001c0001t0001g0304
a0001c0001t0007g0281
a0001c0001t0059g0244
 3 NA18947.hp2
NA19088.hp2
NA20300.hp2
NA18947.hp2
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-21163_970-2112
others(46): Show 
c.970-21163_970-21122delACGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281813
chr1:2281813 GGACGCCC
others(207): Show 
GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0006g0324
a0001c0001t0006g0324
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.970-21163_970-2095
others(4): Show 
c.970-21163_970-20950del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281813
chr1:2281816 C
C
 A
A
 5 a0001c0001t0001g0030
a0001c0001t0005g0089
a0001c0001t0005g0153
others(2): Show 
a0001c0001t0001g0030
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0225
a0001c0001t0028g0055
 5 HG00733.hp2
HG01361.hp1
HG01361.hp2
others(2): Show 
HG00733.hp2
HG01361.hp1
HG01361.hp2
NA18747.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-21162C>A
c.970-21162C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281816
chr1:2281816 C
C
 CGCCCGAG
others(36): Show 
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAT
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-21154_970-2115
others(47): Show 
c.970-21154_970-21153insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281816
chr1:2281816 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 4 a0001c0001t0004g0248
a0001c0001t0008g0196
a0001c0001t0012g0155
others(1): Show 
a0001c0001t0004g0248
a0001c0001t0008g0196
a0001c0001t0012g0155
a0001c0001t0026g0295
 4 HG02273.hp1
HG02622.hp1
NA18959.hp1
others(1): Show 
HG02273.hp1
HG02622.hp1
NA18959.hp1
NA18991.hp2
 intron_variant MODIFIER c.970-21154_970-2115
others(48): Show 
c.970-21154_970-21153insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281816
chr1:2281816 C
C
 T
T
 81 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0141
others(78): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0003g0031
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0037
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0199
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0006g0310
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0009g0100
a0001c0001t0010g0047
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0017g0068
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0069g0104
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0084g0112
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0009t0004g0064
 81 HG00099.hp1
HG00323.hp1
HG00423.hp2
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01884.hp1
HG01978.hp2
HG01993.hp1
HG02109.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04204.hp1
NA18522.hp1
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18979.hp1
NA18983.hp1
NA18990.hp1
NA18998.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21162C>T
c.970-21162C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281816
chr1:2281817 G
G
 A
A
 21 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
others(18): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0246
a0001c0001t0004g0009
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0017g0272
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0038g0212
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0074g0192
 21 HG00323.hp2
HG00423.hp1
HG00544.hp2
others(18): Show 
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01978.hp1
HG02004.hp2
HG02155.hp2
HG02717.hp2
HG02922.hp1
HG03516.hp2
NA18947.hp1
NA18962.hp2
NA18977.hp1
NA18977.hp2
NA18984.hp2
NA19062.hp1
NA19068.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21161G>A
c.970-21161G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281817
chr1:2281819 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 1 a0001c0001t0004g0008
a0001c0001t0004g0008
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.970-21159_970-2115
others(70): Show 
c.970-21159_970-21158insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281819
chr1:2281819 C
C
 G
G
 18 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
others(15): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0246
a0001c0001t0004g0009
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0019g0233
a0001c0001t0038g0212
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0074g0192
 18 HG00323.hp2
HG00423.hp1
HG00544.hp2
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01978.hp1
HG02004.hp2
HG02155.hp2
HG02717.hp2
HG02922.hp1
NA18947.hp1
NA18962.hp2
NA18977.hp2
NA18984.hp2
NA19062.hp1
NA19068.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21159C>G
c.970-21159C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281819
chr1:2281820 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-21154_970-2115
others(70): Show 
c.970-21154_970-21153insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281820
chr1:2281820 C
C
 T
T
 31 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
others(28): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0076
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0246
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0005g0161
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0012g0160
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0064g0311
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0010t0048g0052
a0003c0013t0032g0178
 31 HG00323.hp2
HG00423.hp1
HG00544.hp2
others(28): Show 
HG00323.hp2
HG00423.hp1
HG00544.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02155.hp2
HG02572.hp2
HG02717.hp2
HG02922.hp1
HG03139.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03704.hp1
HG06807.hp1
NA18947.hp1
NA18962.hp2
NA18977.hp2
NA18982.hp2
NA18984.hp2
NA18995.hp2
NA19062.hp1
NA19068.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-21158C>T
c.970-21158C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281820
chr1:2281820 CGAGAGGA
others(122): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0002g0318
a0001c0001t0002g0318
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.970-21153_970-2102
others(4): Show 
c.970-21153_970-21025del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281820
chr1:2281825 G
G
 A
A
 213 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0020
others(210): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0199
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0055g0183
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 214 HG00099.hp2
HG00323.hp2
HG00423.hp1
others(211): Show 
HG00099.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21153G>A
c.970-21153G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281825
chr1:2281827 A
A
 G
G
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.970-21151A>G
c.970-21151A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281827
chr1:2281830 G
G
 T
T
 3 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
 3 NA18946.hp2
NA19007.hp1
NA19082.hp2
NA18946.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21148G>T
c.970-21148G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281830
chr1:2281832 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0003g0044
a0001c0001t0029g0056
a0001c0001t0003g0044
a0001c0001t0029g0056
 2 HG03516.hp1
NA18990.hp1
HG03516.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-21141_970-2114
others(27): Show 
c.970-21141_970-21140insCGGAGATCTTCATAGAGAGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281832
chr1:2281832 C
C
 T
T
 13 a0001c0001t0002g0242
a0001c0001t0003g0158
a0001c0001t0003g0163
others(10): Show 
a0001c0001t0002g0242
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0246
a0001c0001t0004g0219
a0001c0001t0007g0086
a0001c0001t0008g0239
a0001c0001t0010g0047
a0001c0001t0014g0051
a0001c0001t0038g0212
a0001c0001t0064g0311
a0001c0001t0074g0192
a0001c0008t0021g0252
 13 HG00423.hp1
HG00544.hp2
HG00621.hp1
others(10): Show 
HG00423.hp1
HG00544.hp2
HG00621.hp1
HG00735.hp1
HG01070.hp1
HG01884.hp2
HG01952.hp2
HG02027.hp2
HG02155.hp2
HG03704.hp1
HG03831.hp1
NA18947.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-21146C>T
c.970-21146C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281832
chr1:2281833 G
G
 A
A
 9 a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0151
others(6): Show 
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0151
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0077g0011
 9 HG01261.hp1
HG03516.hp2
HG03669.hp1
others(6): Show 
HG01261.hp1
HG03516.hp2
HG03669.hp1
HG03942.hp1
NA18940.hp1
NA18964.hp2
NA19066.hp1
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-21145G>A
c.970-21145G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281833
chr1:2281835 T
T
 C
C
 61 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(58): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0195
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0005g0089
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0008g0193
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0018g0147
a0001c0001t0024g0169
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0002g0186
 61 HG00280.hp1
HG00673.hp1
HG01099.hp2
others(58): Show 
HG00280.hp1
HG00673.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03831.hp1
HG04115.hp2
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18971.hp2
NA18982.hp1
NA18998.hp1
NA19002.hp1
NA19007.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp2
NA19079.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21143T>C
c.970-21143T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281835
chr1:2281838 T
T
 C
C
 247 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
others(244): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 248 HG00099.hp2
HG00280.hp1
HG00323.hp2
others(245): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21140T>C
c.970-21140T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281838
chr1:2281841 A
A
 AGATCTTC
others(37): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-21122_970-2112
others(48): Show 
c.970-21122_970-21121insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281841
chr1:2281841 A
A
 AGATCTTC
others(166): Show 
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACA
CCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0015g0136
a0001c0001t0015g0136
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.970-21079_970-2107
others(177): Show 
c.970-21079_970-21078insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281841
chr1:2281841 A
A
 C
C
 35 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0135
others(32): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0003g0031
a0001c0001t0004g0017
a0001c0001t0004g0219
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0069g0104
a0001c0001t0080g0043
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0004t0002g0186
 35 HG00280.hp1
HG01099.hp1
HG01109.hp2
others(32): Show 
HG00280.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03831.hp1
NA18612.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18971.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21137A>C
c.970-21137A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281841
chr1:2281841 A
A
 T
T
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-21137A>T
c.970-21137A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281841
chr1:2281848 C
C
 CAG
CAG
 5 a0001c0001t0005g0161
a0001c0001t0008g0111
a0001c0001t0012g0160
others(2): Show 
a0001c0001t0005g0161
a0001c0001t0008g0111
a0001c0001t0012g0160
a0001c0001t0015g0126
a0001c0001t0026g0050
 5 HG00438.hp2
HG00609.hp1
HG01952.hp1
others(2): Show 
HG00438.hp2
HG00609.hp1
HG01952.hp1
HG01993.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-21123_970-2112
others(6): Show 
c.970-21123_970-21122dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281848
chr1:2281848 C
C
 CAGAGAGA
others(38): Show 
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.970-21116_970-2111
others(49): Show 
c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281848
chr1:2281850 G
G
 T
T
 4 a0001c0001t0003g0116
a0001c0001t0011g0265
a0001c0001t0034g0190
others(1): Show 
a0001c0001t0003g0116
a0001c0001t0011g0265
a0001c0001t0034g0190
a0002c0004t0001g0188
 4 HG02300.hp1
HG02630.hp2
HG06807.hp1
others(1): Show 
HG02300.hp1
HG02630.hp2
HG06807.hp1
NA18995.hp2
 intron_variant MODIFIER c.970-21128G>T
c.970-21128G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281850
chr1:2281855 A
A
 AGAGATGC
others(339): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGA
GAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGC
 1 a0001c0001t0005g0207
a0001c0001t0005g0207
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.970-21122_970-2112
others(350): Show 
c.970-21122_970-21121insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA
TGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCG
GCGGTGATCTTCAGAGAGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281855
chr1:2281855 A
A
 AGGACACC
others(231): Show 
AGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGCGGTGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-21119_970-2111
others(242): Show 
c.970-21119_970-21118insACCTGAGAAGACAGGCAGTGGCGGAG
ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAG
ACAGGCGGCGGTGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGG
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT
CAGAGAGCGGAC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281855
chr1:2281855 A
A
 C
C
 22 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(19): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0254
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0024g0005
a0001c0003t0020g0015
a0002c0002t0002g0002
a0002c0004t0002g0186
 23 HG00280.hp1
HG01123.hp1
HG01256.hp1
others(20): Show 
HG00280.hp1
HG01123.hp1
HG01256.hp1
HG01258.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG02165.hp1
HG02486.hp2
HG02572.hp1
HG02698.hp1
HG02735.hp2
HG02818.hp2
HG03516.hp2
NA18612.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp2
NA19007.hp1
NA19082.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-21123A>C
c.970-21123A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281855
chr1:2281855 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 3 a0001c0001t0003g0116
a0001c0001t0011g0265
a0001c0001t0034g0190
a0001c0001t0003g0116
a0001c0001t0011g0265
a0001c0001t0034g0190
 3 HG02630.hp2
HG06807.hp1
NA18995.hp2
HG02630.hp2
HG06807.hp1
NA18995.hp2
 intron_variant MODIFIER c.970-21120_970-2110
others(24): Show 
c.970-21120_970-21101delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281855
chr1:2281856 G
G
 A
A
 11 a0001c0001t0001g0119
a0001c0001t0001g0304
a0001c0001t0002g0101
others(8): Show 
a0001c0001t0001g0119
a0001c0001t0001g0304
a0001c0001t0002g0101
a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0007g0281
a0001c0001t0021g0316
a0001c0001t0059g0244
a0001c0001t0065g0312
a0001c0001t0084g0112
 11 HG01257.hp1
HG02074.hp2
HG02717.hp1
others(8): Show 
HG01257.hp1
HG02074.hp2
HG02717.hp1
HG03490.hp1
HG03710.hp2
HG03942.hp2
NA18947.hp2
NA19088.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21122G>A
c.970-21122G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281856
chr1:2281856 G
G
 GA
GA
 34 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0148
others(31): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0002g0027
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0301
a0001c0001t0003g0127
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0253
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0009g0308
a0001c0001t0012g0067
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0024g0169
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0006t0040g0053
a0002c0002t0002g0180
a0002c0002t0011g0179
a0002c0004t0001g0188
a0003c0013t0032g0178
 34 HG00733.hp1
HG00738.hp2
HG01884.hp2
others(31): Show 
HG00733.hp1
HG00738.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02630.hp1
HG03017.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp2
HG04184.hp2
NA18522.hp2
NA18906.hp2
NA18954.hp1
NA18971.hp1
NA18979.hp2
NA19012.hp1
NA19030.hp1
NA19065.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21122_970-2112
others(5): Show 
c.970-21122_970-21121insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281856
chr1:2281856 GGACGCCC
others(294): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GA
 G
G
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-21120_970-2082
others(4): Show 
c.970-21120_970-20820del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281856
chr1:2281859 C
C
 A
A
 1 a0001c0001t0005g0089
a0001c0001t0005g0089
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.970-21119C>A
c.970-21119C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281859
chr1:2281859 C
C
 CACCTGAG
others(37): Show 
CACCTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0019g0223
a0001c0001t0019g0223
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-21119_970-2111
others(48): Show 
c.970-21119_970-21118insACCTGAGAAGACAGGCGGTGGTGGAG
ATCTTCAGAGAGAGAGAT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281859
chr1:2281859 C
C
 CGCCCGAG
others(619): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA
TCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA
GGATGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC
CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGAGAT
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-21073_970-2107
others(630): Show 
c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG
GCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG
CGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC
AGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCTGAGAAGACAGGCGGT
GGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCA
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAG
AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281859
chr1:2281859 C
C
 CGCCCGAG
others(361): Show 
CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAA
GACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCC
GAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGA
CAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGG
TGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGAGAT
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.970-21111_970-2111
others(372): Show 
c.970-21111_970-21110insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTC
AGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC
CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281859
chr1:2281859 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-21116_970-2111
others(48): Show 
c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281859
chr1:2281859 C
C
 T
T
 81 a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0301
a0001c0001t0003g0039
a0001c0001t0003g0127
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0199
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0150
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0210
a0001c0001t0009g0308
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0050g0309
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0071g0024
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0006t0040g0053
a0002c0002t0002g0180
a0002c0002t0011g0179
a0002c0004t0001g0188
a0003c0013t0032g0178
 81 HG00621.hp2
HG00673.hp1
HG00733.hp1
others(78): Show 
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01081.hp2
HG01099.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03831.hp1
HG03834.hp2
HG04184.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18971.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18991.hp2
NA18998.hp1
NA19002.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-21119C>T
c.970-21119C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281859
chr1:2281860 G
G
 A
A
 7 a0001c0001t0001g0119
a0001c0001t0005g0198
a0001c0001t0006g0065
others(4): Show 
a0001c0001t0001g0119
a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0019g0249
a0001c0001t0065g0312
a0001c0001t0084g0112
 7 HG01257.hp1
HG02074.hp2
HG03490.hp1
others(4): Show 
HG01257.hp1
HG02074.hp2
HG03490.hp1
HG03710.hp2
HG03942.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-21118G>A
c.970-21118G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281860
chr1:2281862 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 1 a0001c0001t0008g0041
a0001c0001t0008g0041
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.970-21116_970-2111
others(70): Show 
c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281862
chr1:2281862 C
C
 G
G
 6 a0001c0001t0001g0119
a0001c0001t0005g0198
a0001c0001t0006g0065
others(3): Show 
a0001c0001t0001g0119
a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0065g0312
a0001c0001t0084g0112
 6 HG01257.hp1
HG02074.hp2
HG03490.hp1
others(3): Show 
HG01257.hp1
HG02074.hp2
HG03490.hp1
HG03710.hp2
HG03942.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21116C>G
c.970-21116C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281862
chr1:2281863 C
C
 CGAGAAGA
others(618): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGG
CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT
CAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG
AGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGC
CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA
GACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC
GGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGA
GAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.970-21101_970-2110
others(629): Show 
c.970-21101_970-21100insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATG
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAC
GCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA
GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281863
chr1:2281863 C
C
 CGAGAAGA
others(317): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACATGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC
GGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-21101_970-2110
others(328): Show 
c.970-21101_970-21100insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281863
chr1:2281863 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0014g0229
a0001c0001t0014g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.970-21111_970-2111
others(113): Show 
c.970-21111_970-21110insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281863
chr1:2281863 C
C
 T
T
 33 a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0001g0152
others(30): Show 
a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0002g0036
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0003g0044
a0001c0001t0003g0143
a0001c0001t0004g0037
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0310
a0001c0001t0008g0041
a0001c0001t0010g0048
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0017g0068
a0001c0001t0019g0249
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0037g0012
a0001c0001t0063g0259
a0001c0001t0065g0312
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0084g0112
 33 HG00099.hp1
HG00323.hp1
HG00438.hp1
others(30): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp1
HG01081.hp1
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG02027.hp1
HG02074.hp2
HG02109.hp2
HG02155.hp1
HG02559.hp2
HG02896.hp2
HG03490.hp1
HG03516.hp1
HG03669.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
NA18940.hp1
NA18944.hp1
NA18964.hp2
NA18979.hp1
NA18990.hp1
NA19011.hp1
NA19066.hp1
NA19079.hp2
NA19082.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21115C>T
c.970-21115C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281863
chr1:2281868 A
A
 G
G
 42 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(39): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0076
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0003g0039
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0134
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0310
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0012g0258
a0001c0001t0013g0060
a0001c0001t0024g0005
a0001c0001t0071g0024
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0015
a0002c0002t0002g0189
 42 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(39): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01361.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG02055.hp2
HG02165.hp1
HG02572.hp1
HG02698.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03710.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp2
NA18982.hp2
NA18998.hp1
NA19007.hp1
NA19057.hp1
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19091.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21110A>G
c.970-21110A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281868
chr1:2281875 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.970-21078_970-2107
others(70): Show 
c.970-21078_970-21077insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281875
chr1:2281875 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 7 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
others(4): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
a0001c0001t0003g0022
a0001c0001t0004g0230
a0001c0001t0014g0070
a0001c0001t0017g0068
 7 HG00099.hp1
HG01257.hp2
HG02004.hp2
others(4): Show 
HG00099.hp1
HG01257.hp2
HG02004.hp2
HG02155.hp1
HG02896.hp2
NA18977.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-21086_970-2108
others(27): Show 
c.970-21086_970-21085insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281875
chr1:2281875 C
C
 T
T
 9 a0001c0001t0002g0109
a0001c0001t0002g0322
a0001c0001t0004g0025
others(6): Show 
a0001c0001t0002g0109
a0001c0001t0002g0322
a0001c0001t0004g0025
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0006g0065
a0001c0001t0007g0162
a0001c0001t0008g0111
a0001c0001t0065g0312
 9 HG00438.hp2
HG01257.hp1
HG01993.hp2
others(6): Show 
HG00438.hp2
HG01257.hp1
HG01993.hp2
HG02015.hp1
HG02074.hp2
HG02300.hp2
HG03209.hp1
HG03942.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-21103C>T
c.970-21103C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281875
chr1:2281876 G
G
 A
A
 3 a0001c0001t0001g0121
a0001c0001t0002g0094
a0001c0001t0063g0259
a0001c0001t0001g0121
a0001c0001t0002g0094
a0001c0001t0063g0259
 3 HG02109.hp2
HG03041.hp2
NA18747.hp1
HG02109.hp2
HG03041.hp2
NA18747.hp1
 intron_variant MODIFIER c.970-21102G>A
c.970-21102G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281876
chr1:2281878 T
T
 C
C
 47 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(44): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0007g0133
a0001c0001t0009g0095
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0047g0293
a0001c0001t0060g0058
a0001c0001t0069g0104
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0002t0002g0002
a0002c0002t0002g0189
 48 HG00280.hp1
HG01109.hp2
HG01123.hp1
others(45): Show 
HG00280.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG02145.hp1
HG02165.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp2
NA18979.hp2
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19082.hp2
NA19091.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21100T>C
c.970-21100T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281878
chr1:2281881 C
C
 T
T
 12 a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0235
others(9): Show 
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0235
a0001c0001t0002g0076
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0071g0024
 12 HG00323.hp2
HG01099.hp2
HG02055.hp2
others(9): Show 
HG00323.hp2
HG01099.hp2
HG02055.hp2
HG03831.hp1
HG04184.hp1
NA18747.hp1
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21097C>T
c.970-21097C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281881
chr1:2281884 A
A
 C
C
 25 a0001c0001t0001g0030
a0001c0001t0001g0254
a0001c0001t0001g0271
others(22): Show 
a0001c0001t0001g0030
a0001c0001t0001g0254
a0001c0001t0001g0271
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0247
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0007g0133
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0013g0059
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0060g0058
a0001c0001t0069g0104
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
 25 HG01109.hp2
HG01169.hp1
HG01361.hp1
others(22): Show 
HG01109.hp2
HG01169.hp1
HG01361.hp1
HG01884.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp2
NA18747.hp2
NA18979.hp2
NA19030.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21094A>C
c.970-21094A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281884
chr1:2281884 A
A
 T
T
 4 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
others(1): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
a0001c0001t0005g0225
 4 HG01361.hp2
NA18946.hp2
NA19007.hp1
others(1): Show 
HG01361.hp2
NA18946.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21094A>T
c.970-21094A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281884
chr1:2281893 G
G
 T
T
 14 a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0037
others(11): Show 
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0037
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0260
a0001c0001t0006g0310
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0075g0023
a0001c0001t0077g0011
 14 HG00323.hp1
HG00438.hp1
HG01261.hp1
others(11): Show 
HG00323.hp1
HG00438.hp1
HG01261.hp1
HG03669.hp1
HG03942.hp1
NA18940.hp1
NA18944.hp1
NA18964.hp2
NA19011.hp1
NA19066.hp1
NA19079.hp2
NA19088.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21085G>T
c.970-21085G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281893
chr1:2281898 A
A
 C
C
 7 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
others(4): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0019
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0009g0103
a0001c0001t0010g0092
 7 HG01169.hp1
HG01361.hp2
HG02145.hp1
others(4): Show 
HG01169.hp1
HG01361.hp2
HG02145.hp1
HG02572.hp1
NA18946.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21080A>C
c.970-21080A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281898
chr1:2281898 AGGACGCC
others(13): Show 
AGGACGCCCGAGAGGACAGGC
 A
A
 15 a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0037
others(12): Show 
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0004g0037
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0006g0310
a0001c0001t0009g0308
a0001c0001t0013g0177
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0075g0023
a0001c0001t0077g0011
 15 HG00323.hp1
HG00438.hp1
HG01261.hp1
others(12): Show 
HG00323.hp1
HG00438.hp1
HG01261.hp1
HG03540.hp2
HG03669.hp1
HG03942.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18964.hp2
NA19011.hp1
NA19066.hp1
NA19079.hp2
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21077_970-2105
others(24): Show 
c.970-21077_970-21058delACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281898
chr1:2281898 AGGACGCC
others(56): Show 
AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CTGAGAAGACAGGC
 A
A
 2 a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0004g0260
a0001c0001t0004g0325
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-21077_970-2101
others(67): Show 
c.970-21077_970-21015delACGCCCGAGAGGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281898
chr1:2281899 G
G
 A
A
 12 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
others(9): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
a0001c0001t0003g0022
a0001c0001t0003g0116
a0001c0001t0003g0204
a0001c0001t0004g0230
a0001c0001t0006g0080
a0001c0001t0009g0307
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0076g0113
 12 HG00099.hp1
HG00673.hp2
HG01257.hp2
others(9): Show 
HG00099.hp1
HG00673.hp2
HG01257.hp2
HG01346.hp1
HG02004.hp2
HG02155.hp1
HG02630.hp2
HG03098.hp1
NA18977.hp2
NA18984.hp2
NA18995.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21079G>A
c.970-21079G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281899
chr1:2281899 G
G
 GA
GA
 24 a0001c0001t0002g0077
a0001c0001t0002g0301
a0001c0001t0003g0209
others(21): Show 
a0001c0001t0002g0077
a0001c0001t0002g0301
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0010g0208
a0001c0001t0012g0215
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0044g0292
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0073g0216
 24 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(21): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01243.hp2
HG01261.hp2
HG02559.hp2
HG02717.hp2
HG02738.hp2
HG03239.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp2
NA18962.hp2
NA18990.hp2
NA19000.hp1
NA19030.hp2
NA19074.hp2
NA19080.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-21079_970-2107
others(5): Show 
c.970-21079_970-21078insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281899
chr1:2281899 G
G
 GAGATGCC
others(81): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGA
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.970-21079_970-2107
others(92): Show 
c.970-21079_970-21078insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281899
chr1:2281899 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-21078_970-2107
others(27): Show 
c.970-21078_970-21077insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281899
chr1:2281902 C
C
 A
A
 2 a0001c0001t0007g0133
a0001c0001t0080g0043
a0001c0001t0007g0133
a0001c0001t0080g0043
 2 NA18979.hp2
NA19090.hp2
NA18979.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-21076C>A
c.970-21076C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281902
chr1:2281902 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 3 a0001c0001t0003g0273
a0001c0001t0008g0042
a0001c0001t0018g0028
a0001c0001t0003g0273
a0001c0001t0008g0042
a0001c0001t0018g0028
 3 HG03688.hp1
NA18971.hp1
NA19057.hp2
HG03688.hp1
NA18971.hp1
NA19057.hp2
 intron_variant MODIFIER c.970-21068_970-2106
others(48): Show 
c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281902
chr1:2281902 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-21068_970-2106
others(91): Show 
c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281902
chr1:2281902 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0070g0074
a0001c0001t0070g0074
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-21073_970-2107
others(48): Show 
c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281902
chr1:2281902 C
C
 T
T
 55 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0119
others(52): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0119
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0077
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0301
a0001c0001t0003g0209
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0090
a0001c0001t0004g0134
a0001c0001t0005g0066
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0010g0208
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0056g0315
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0088g0120
a0001c0003t0020g0015
a0002c0002t0002g0002
 56 HG00099.hp2
HG00280.hp1
HG00642.hp2
others(53): Show 
HG00099.hp2
HG00280.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02165.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03209.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03654.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18956.hp2
NA18961.hp2
NA18962.hp2
NA18971.hp2
NA18990.hp2
NA19000.hp1
NA19030.hp2
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-21076C>T
c.970-21076C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281902
chr1:2281902 CGCCCGAG
others(209): Show 
CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGAGAT
 C
C
 2 a0001c0001t0001g0299
a0001c0014t0001g0174
a0001c0001t0001g0299
a0001c0014t0001g0174
 2 HG02897.hp1
HG03225.hp1
HG02897.hp1
HG03225.hp1
 intron_variant MODIFIER c.970-21067_970-2085
others(4): Show 
c.970-21067_970-20852del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281902
chr1:2281903 G
G
 A
A
 12 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
others(9): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
a0001c0001t0003g0022
a0001c0001t0003g0116
a0001c0001t0003g0204
a0001c0001t0004g0230
a0001c0001t0006g0080
a0001c0001t0009g0307
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0076g0113
 12 HG00099.hp1
HG00673.hp2
HG01257.hp2
others(9): Show 
HG00099.hp1
HG00673.hp2
HG01257.hp2
HG01346.hp1
HG02004.hp2
HG02155.hp1
HG02630.hp2
HG03098.hp1
NA18977.hp2
NA18984.hp2
NA18995.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21075G>A
c.970-21075G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281903
chr1:2281905 C
C
 G
G
 12 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
others(9): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0002g0036
a0001c0001t0003g0022
a0001c0001t0003g0116
a0001c0001t0003g0204
a0001c0001t0004g0230
a0001c0001t0006g0080
a0001c0001t0009g0307
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0076g0113
 12 HG00099.hp1
HG00673.hp2
HG01257.hp2
others(9): Show 
HG00099.hp1
HG00673.hp2
HG01257.hp2
HG01346.hp1
HG02004.hp2
HG02155.hp1
HG02630.hp2
HG03098.hp1
NA18977.hp2
NA18984.hp2
NA18995.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-21073C>G
c.970-21073C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281905
chr1:2281906 C
C
 CGAGAAGA
others(274): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAG
AGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0007g0133
a0001c0001t0007g0133
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.970-21068_970-2106
others(285): Show 
c.970-21068_970-21067insAGACAGGCGGCGGCGGCGATCTTCAG
AGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGG
ACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCG
AGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC
AGGCAGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGT
GGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
TGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281906
chr1:2281906 C
C
 CGAGAAGA
others(361): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGC
GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCG
GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.970-21068_970-2106
others(372): Show 
c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAG
GAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCC
GAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGA
CAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG
CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGGA
GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC
ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281906
chr1:2281906 C
C
 T
T
 28 a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
others(25): Show 
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0230
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0080
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0011g0265
a0001c0001t0013g0060
a0001c0001t0014g0070
a0001c0001t0071g0024
a0001c0001t0076g0113
a0001c0001t0083g0231
 28 HG00099.hp1
HG00621.hp1
HG00673.hp2
others(25): Show 
HG00099.hp1
HG00621.hp1
HG00673.hp2
HG01099.hp2
HG01257.hp2
HG01346.hp1
HG01952.hp2
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02074.hp1
HG02155.hp1
HG02630.hp2
HG03098.hp1
HG03710.hp1
NA18747.hp1
NA18942.hp1
NA18948.hp2
NA18977.hp2
NA18980.hp1
NA18984.hp2
NA18995.hp2
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21072C>T
c.970-21072C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281906
chr1:2281907 G
G
 A
A
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.970-21071G>A
c.970-21071G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281907
chr1:2281911 G
G
 A
A
 245 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0026
others(242): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0003c0013t0032g0178
 245 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(242): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21067G>A
c.970-21067G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281911
chr1:2281911 GGACAGGC
others(36): Show 
GGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAA
 G
G
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.970-21029_970-2098
others(47): Show 
c.970-21029_970-20987delTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281911
chr1:2281911 GGACAGGC
others(79): Show 
GGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
 G
G
 1 a0001c0001t0005g0199
a0001c0001t0005g0199
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.970-21029_970-2094
others(90): Show 
c.970-21029_970-20944delTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281911
chr1:2281916 G
G
 T
T
 1 a0001c0003t0020g0014
a0001c0003t0020g0014
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.970-21062G>T
c.970-21062G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281916
chr1:2281918 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0002g0256
a0001c0001t0019g0233
a0001c0001t0002g0256
a0001c0001t0019g0233
 2 HG00738.hp1
HG00741.hp1
HG00738.hp1
HG00741.hp1
 intron_variant MODIFIER c.970-21060_970-2105
others(27): Show 
c.970-21060_970-21059insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281918
chr1:2281918 C
C
 CGGCGGCG
others(403): Show 
CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGG
TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGA
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.970-21058_970-2105
others(414): Show 
c.970-21058_970-21057insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281918
chr1:2281918 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCAGAGAGA
 2 a0001c0001t0003g0191
a0001c0001t0044g0292
a0001c0001t0003g0191
a0001c0001t0044g0292
 2 HG01243.hp2
NA19084.hp1
HG01243.hp2
NA19084.hp1
 intron_variant MODIFIER c.970-21057_970-2103
others(27): Show 
c.970-21057_970-21035dupTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281918
chr1:2281918 C
C
 CGGTGGCG
others(103): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG
AGAAGACAGGT
 1 a0001c0008t0021g0252
a0001c0008t0021g0252
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.970-21036_970-2103
others(114): Show 
c.970-21036_970-21035insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281918
chr1:2281918 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 9 a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0003g0039
others(6): Show 
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0004g0034
a0001c0001t0004g0040
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0071g0024
 9 HG01099.hp2
NA18747.hp1
NA18942.hp1
others(6): Show 
HG01099.hp2
NA18747.hp1
NA18942.hp1
NA18948.hp2
NA18990.hp1
NA18998.hp1
NA19057.hp1
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.970-21043_970-2104
others(27): Show 
c.970-21043_970-21042insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281918
chr1:2281918 C
C
 T
T
 6 a0001c0001t0002g0084
a0001c0001t0003g0163
a0001c0001t0003g0204
others(3): Show 
a0001c0001t0002g0084
a0001c0001t0003g0163
a0001c0001t0003g0204
a0001c0001t0010g0164
a0001c0001t0014g0070
a0001c0001t0034g0190
 6 HG01257.hp2
HG01346.hp1
HG02027.hp2
others(3): Show 
HG01257.hp2
HG01346.hp1
HG02027.hp2
HG02074.hp1
HG06807.hp1
NA19011.hp2
 intron_variant MODIFIER c.970-21060C>T
c.970-21060C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281918
chr1:2281919 G
G
 A
A
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-21059G>A
c.970-21059G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281919
chr1:2281921 T
T
 C
C
 30 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
others(27): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
a0001c0001t0002g0038
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0203
a0001c0001t0003g0019
a0001c0001t0005g0089
a0001c0001t0005g0225
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0024g0169
a0001c0001t0069g0104
a0001c0001t0080g0043
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0009t0004g0064
a0002c0015t0002g0185
 30 HG01109.hp2
HG01361.hp1
HG01361.hp2
others(27): Show 
HG01109.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18612.hp2
NA18946.hp2
NA18959.hp1
NA18991.hp1
NA18998.hp2
NA19007.hp1
NA19030.hp1
NA19082.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-21057T>C
c.970-21057T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281921
chr1:2281924 C
C
 CGGAGATC
others(232): Show 
CGGAGATCTTCATAGAGAGAGATGCCCGAGAAGACAGGTGGTGGCGGAGA
TCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGT
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-21043_970-2104
others(243): Show 
c.970-21043_970-21042insTAGAGAGAGATGCCCGAGAAGACAGG
TGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTG
GTGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281924
chr1:2281924 C
C
 T
T
 19 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0135
others(16): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0009g0095
a0001c0001t0012g0258
a0001c0001t0024g0005
a0001c0001t0029g0056
a0001c0001t0030g0054
a0002c0002t0002g0002
 20 HG00280.hp1
HG01123.hp1
HG01256.hp1
others(17): Show 
HG00280.hp1
HG01123.hp1
HG01256.hp1
HG01258.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp1
HG02165.hp1
HG02698.hp1
HG02735.hp2
HG02818.hp2
HG03209.hp2
HG03516.hp1
HG03516.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp2
NA19043.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-21054C>T
c.970-21054C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281924
chr1:2281927 A
A
 C
C
 21 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
others(18): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0003g0019
a0001c0001t0005g0225
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0024g0169
a0001c0001t0069g0104
a0001c0001t0080g0043
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
 21 HG01109.hp2
HG01361.hp2
HG01884.hp1
others(18): Show 
HG01109.hp2
HG01361.hp2
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18946.hp2
NA19007.hp1
NA19030.hp1
NA19082.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-21051A>C
c.970-21051A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281927
chr1:2281927 A
A
 T
T
 1 a0001c0001t0002g0038
a0001c0001t0002g0038
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.970-21051A>T
c.970-21051A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281927
chr1:2281936 G
G
 T
T
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.970-21042G>T
c.970-21042G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281936
chr1:2281936 GAGAGAGG
others(34): Show 
GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC
 G
G
 1 a0001c0001t0003g0270
a0001c0001t0003g0270
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.970-21035_970-2099
others(45): Show 
c.970-21035_970-20995delGACGCCTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281936
chr1:2281941 A
A
 C
C
 12 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0094
others(9): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0019
a0001c0001t0004g0017
a0001c0001t0005g0225
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0069g0104
 12 HG01361.hp2
HG01884.hp1
HG02145.hp1
others(9): Show 
HG01361.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03041.hp2
HG03209.hp2
NA18946.hp2
NA18956.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21037A>C
c.970-21037A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281941
chr1:2281941 AGGACGCC
others(13): Show 
AGGACGCCTGAGAAGACAGGC
 A
A
 4 a0001c0001t0001g0235
a0001c0001t0003g0209
a0001c0001t0021g0316
others(1): Show 
a0001c0001t0001g0235
a0001c0001t0003g0209
a0001c0001t0021g0316
a0001c0001t0073g0216
 4 HG01261.hp2
HG02055.hp2
HG02717.hp1
others(1): Show 
HG01261.hp2
HG02055.hp2
HG02717.hp1
NA19000.hp1
 intron_variant MODIFIER c.970-21034_970-2101
others(24): Show 
c.970-21034_970-21015delACGCCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281941
chr1:2281942 G
G
 A
A
 42 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
others(39): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0002g0256
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0310
a0001c0001t0007g0302
a0001c0001t0009g0308
a0001c0001t0011g0003
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0044g0292
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0012t0011g0266
 43 HG00323.hp1
HG00423.hp1
HG00438.hp1
others(40): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG02145.hp2
HG02615.hp1
HG02723.hp2
HG02976.hp2
HG03017.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18948.hp2
NA18956.hp1
NA18964.hp2
NA18980.hp2
NA18990.hp1
NA18998.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21036G>A
c.970-21036G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281942
chr1:2281942 G
G
 GA
GA
 39 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0141
others(36): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0105
a0001c0001t0002g0123
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0289
a0001c0001t0004g0006
a0001c0001t0007g0086
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0015g0126
a0001c0001t0017g0287
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0038g0212
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0083g0231
a0002c0002t0055g0183
a0002c0015t0002g0185
 39 HG00423.hp2
HG00609.hp1
HG00642.hp1
others(36): Show 
HG00423.hp2
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG01081.hp2
HG01109.hp2
HG01515.hp1
HG01978.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp1
HG02622.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp2
HG04199.hp1
NA18522.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18967.hp1
NA18983.hp1
NA19012.hp2
NA19064.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21036_970-2103
others(5): Show 
c.970-21036_970-21035insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281942
chr1:2281942 G
G
 GAGATGCC
others(60): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGC
GGAGATCTTCAGAGAGAA
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-21036_970-2103
others(71): Show 
c.970-21036_970-21035insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281942
chr1:2281942 G
G
 GGATGCCC
others(123): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACG
TGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGA
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-21034_970-2103
others(134): Show 
c.970-21034_970-21033insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281942
chr1:2281942 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 2 a0001c0001t0008g0107
a0001c0001t0012g0215
a0001c0001t0008g0107
a0001c0001t0012g0215
 2 NA19080.hp1
NA19084.hp2
NA19080.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-21035_970-2103
others(27): Show 
c.970-21035_970-21034insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281942
chr1:2281942 GGACGCCT
others(35): Show 
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0025g0238
a0001c0001t0025g0238
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.970-21034_970-2099
others(46): Show 
c.970-21034_970-20993delACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281942
chr1:2281945 C
C
 A
A
 1 a0001c0001t0001g0271
a0001c0001t0001g0271
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.970-21033C>A
c.970-21033C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281945
chr1:2281945 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-21030_970-2102
others(48): Show 
c.970-21030_970-21029insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281945
chr1:2281945 C
C
 T
T
 59 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0125
others(56): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0105
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0277
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0289
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0207
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0010g0092
a0001c0001t0010g0208
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0081g0083
a0001c0001t0083g0231
a0002c0002t0055g0183
a0002c0015t0002g0185
 59 HG00423.hp2
HG00609.hp1
HG00642.hp1
others(56): Show 
HG00423.hp2
HG00609.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01081.hp2
HG01109.hp2
HG01169.hp1
HG01361.hp1
HG01515.hp1
HG01978.hp2
HG01981.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp1
HG02572.hp1
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18967.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19012.hp2
NA19064.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21033C>T
c.970-21033C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281945
chr1:2281946 G
G
 A
A
 43 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
others(40): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0310
a0001c0001t0007g0302
a0001c0001t0008g0107
a0001c0001t0009g0308
a0001c0001t0011g0003
a0001c0001t0012g0215
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0044g0292
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0012t0011g0266
 44 HG00323.hp1
HG00423.hp1
HG00438.hp1
others(41): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG02145.hp2
HG02615.hp1
HG02723.hp2
HG02976.hp2
HG03017.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18948.hp2
NA18956.hp1
NA18964.hp2
NA18980.hp2
NA18990.hp1
NA18998.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21032G>A
c.970-21032G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281946
chr1:2281948 C
C
 CCGAGAAG
others(428): Show 
CCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC
GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG
GAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCT
TCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGT
GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA
TAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
 1 a0001c0001t0080g0043
a0001c0001t0080g0043
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-21030_970-2102
others(439): Show 
c.970-21030_970-21029insCGAGAAGACATGCGGCGGCGGAGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG
AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG
GCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGT
GGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281948
chr1:2281948 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 2 a0001c0001t0003g0031
a0001c0001t0005g0206
a0001c0001t0003g0031
a0001c0001t0005g0206
 2 HG01975.hp1
NA18959.hp2
HG01975.hp1
NA18959.hp2
 intron_variant MODIFIER c.970-21000_970-2099
others(70): Show 
c.970-21000_970-20999insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281948
chr1:2281948 C
C
 G
G
 43 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
others(40): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0191
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0310
a0001c0001t0007g0302
a0001c0001t0008g0107
a0001c0001t0009g0308
a0001c0001t0011g0003
a0001c0001t0012g0215
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0026g0050
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0044g0292
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0012t0011g0266
 44 HG00323.hp1
HG00423.hp1
HG00438.hp1
others(41): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG02145.hp2
HG02615.hp1
HG02723.hp2
HG02976.hp2
HG03017.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18948.hp2
NA18956.hp1
NA18964.hp2
NA18980.hp2
NA18990.hp1
NA18998.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-21030C>G
c.970-21030C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281948
chr1:2281949 T
T
 C
C
 217 a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0020
others(214): Show 
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0198
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0076g0113
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 217 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(214): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-21029T>C
c.970-21029T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281949
chr1:2281949 TGAGAAGA
others(79): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
 T
T
 2 a0001c0001t0003g0224
a0001c0001t0013g0060
a0001c0001t0003g0224
a0001c0001t0013g0060
 2 HG01109.hp1
HG03710.hp1
HG01109.hp1
HG03710.hp1
 intron_variant MODIFIER c.970-20949_970-2086
others(90): Show 
c.970-20949_970-20864delGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281949
chr1:2281954 A
A
 G
G
 22 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0254
others(19): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0254
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0116
a0001c0001t0004g0017
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0007g0133
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0060g0058
a0001c0001t0069g0104
a0001c0003t0007g0171
 22 HG01169.hp1
HG01361.hp1
HG01361.hp2
others(19): Show 
HG01169.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp1
HG01981.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG03041.hp2
HG03209.hp2
HG03490.hp2
HG03492.hp2
NA18946.hp2
NA18956.hp2
NA18979.hp2
NA18983.hp2
NA18995.hp2
NA19007.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21024A>G
c.970-21024A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281954
chr1:2281959 G
G
 T
T
 5 a0001c0001t0001g0271
a0001c0003t0001g0170
a0001c0003t0001g0172
others(2): Show 
a0001c0001t0001g0271
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
 5 HG02886.hp1
HG03041.hp1
HG03130.hp2
others(2): Show 
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.970-21019G>T
c.970-21019G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281959
chr1:2281961 C
C
 CGGTGGCG
others(169): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0012g0160
a0001c0001t0012g0160
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.970-20993_970-2099
others(180): Show 
c.970-20993_970-20992insAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281961
chr1:2281961 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 8 a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0002g0222
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0002g0222
a0001c0001t0004g0134
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0024g0005
a0001c0003t0020g0015
 8 HG00280.hp1
HG01123.hp1
HG01891.hp1
others(5): Show 
HG00280.hp1
HG01123.hp1
HG01891.hp1
HG01928.hp1
HG02698.hp1
HG02735.hp2
HG03516.hp2
NA18961.hp2
 intron_variant MODIFIER c.970-21000_970-2099
others(27): Show 
c.970-21000_970-20999insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281961
chr1:2281961 C
C
 T
T
 10 a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0002g0247
others(7): Show 
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0002g0247
a0001c0001t0003g0158
a0001c0001t0004g0025
a0001c0001t0011g0265
a0001c0001t0012g0215
a0001c0001t0026g0050
a0001c0001t0054g0159
a0001c0001t0074g0192
 10 HG00423.hp1
HG01081.hp1
HG01928.hp2
others(7): Show 
HG00423.hp1
HG01081.hp1
HG01928.hp2
HG01952.hp2
HG02015.hp2
HG02630.hp2
HG03831.hp2
NA19030.hp2
NA19063.hp1
NA19080.hp1
 intron_variant MODIFIER c.970-21017C>T
c.970-21017C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281961
chr1:2281964 T
T
 C
C
 28 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
others(25): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0004g0006
a0001c0001t0005g0225
a0001c0001t0008g0193
a0001c0001t0008g0210
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0015g0201
a0001c0001t0024g0169
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0069g0104
a0001c0001t0081g0083
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
 28 HG00673.hp1
HG01109.hp2
HG01361.hp2
others(25): Show 
HG00673.hp1
HG01109.hp2
HG01361.hp2
HG01884.hp1
HG02071.hp1
HG02145.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18982.hp1
NA19007.hp1
NA19030.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-21014T>C
c.970-21014T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281964
chr1:2281964 T
T
 TGGCGGAG
others(618): Show 
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCC
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGG
TGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGC
 1 a0002c0002t0002g0189
a0002c0002t0002g0189
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.970-20886_970-2088
others(629): Show 
c.970-20886_970-20885insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTG
GCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGG
ACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281964
chr1:2281964 T
T
 TGGCGGAG
others(36): Show 
TGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-20995_970-2099
others(47): Show 
c.970-20995_970-20994insCGGACGCCCGAGAGGACAGGCGGCGG
CGGAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281964
chr1:2281967 C
C
 T
T
 8 a0001c0001t0001g0255
a0001c0001t0002g0123
a0001c0001t0004g0218
others(5): Show 
a0001c0001t0001g0255
a0001c0001t0002g0123
a0001c0001t0004g0218
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0010g0092
a0001c0001t0014g0070
a0001c0001t0029g0056
 8 HG00423.hp2
HG01169.hp1
HG01257.hp2
others(5): Show 
HG00423.hp2
HG01169.hp1
HG01257.hp2
HG01361.hp1
HG01993.hp1
HG02572.hp1
HG03516.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-21011C>T
c.970-21011C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281967
chr1:2281970 A
A
 C
C
 12 a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
others(9): Show 
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0004g0006
a0001c0001t0009g0100
a0001c0001t0024g0169
a0001c0001t0053g0082
a0001c0001t0069g0104
a0001c0003t0007g0171
a0001c0003t0020g0014
 12 HG01109.hp2
HG01884.hp1
HG02071.hp1
others(9): Show 
HG01109.hp2
HG01884.hp1
HG02071.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG03041.hp2
HG03130.hp1
HG03453.hp2
NA18945.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-21008A>C
c.970-21008A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281970
chr1:2281977 C
C
 CAG
CAG
 5 a0001c0001t0001g0018
a0001c0001t0001g0165
a0001c0001t0001g0166
others(2): Show 
a0001c0001t0001g0018
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0008g0279
a0001c0001t0072g0200
 5 HG01081.hp1
HG03831.hp2
NA18962.hp2
others(2): Show 
HG01081.hp1
HG03831.hp2
NA18962.hp2
NA19064.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-20994_970-2099
others(6): Show 
c.970-20994_970-20993dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281977
chr1:2281979 G
G
 T
T
 5 a0001c0001t0001g0254
a0001c0001t0002g0038
a0001c0001t0002g0049
others(2): Show 
a0001c0001t0001g0254
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0009g0095
 5 HG01981.hp1
HG02165.hp1
HG02818.hp2
others(2): Show 
HG01981.hp1
HG02165.hp1
HG02818.hp2
NA18612.hp2
NA18971.hp2
 intron_variant MODIFIER c.970-20999G>T
c.970-20999G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281979
chr1:2281984 A
A
 AGAGATGC
others(296): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT
CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGA
GAGC
 1 a0001c0001t0002g0101
a0001c0001t0002g0101
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20993_970-2099
others(307): Show 
c.970-20993_970-20992insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACA
GGCGGCGGCGGCGATCTTCAGAGAGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281984
chr1:2281984 A
A
 C
C
 8 a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0102
others(5): Show 
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0009g0100
a0001c0001t0010g0092
a0001c0001t0069g0104
a0001c0003t0020g0014
 8 HG01884.hp1
HG02074.hp1
HG02572.hp1
others(5): Show 
HG01884.hp1
HG02074.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03041.hp2
HG03453.hp2
 intron_variant MODIFIER c.970-20994A>C
c.970-20994A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281984
chr1:2281984 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 6 a0001c0001t0001g0304
a0001c0001t0002g0049
a0001c0001t0002g0129
others(3): Show 
a0001c0001t0001g0304
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0007g0305
a0001c0001t0050g0309
a0001c0001t0062g0257
 6 HG02165.hp1
HG02258.hp1
HG02622.hp2
others(3): Show 
HG02165.hp1
HG02258.hp1
HG02622.hp2
NA18522.hp1
NA18971.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-20991_970-2097
others(24): Show 
c.970-20991_970-20972delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281984
chr1:2281984 AGGACGCC
others(56): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 1 a0001c0001t0001g0254
a0001c0001t0001g0254
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.970-20991_970-2092
others(67): Show 
c.970-20991_970-20929delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281984
chr1:2281984 AGGACGCC
others(272): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0009g0095
a0001c0001t0009g0095
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.970-20991_970-2071
others(4): Show 
c.970-20991_970-20713del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281984
chr1:2281985 G
G
 A
A
 20 a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0135
others(17): Show 
a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0004g0017
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0024g0005
a0001c0001t0025g0238
a0001c0001t0073g0216
a0001c0003t0020g0015
 21 HG00280.hp1
HG00621.hp2
HG01123.hp1
others(18): Show 
HG00280.hp1
HG00621.hp2
HG01123.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02280.hp2
HG02698.hp1
HG02735.hp2
HG03516.hp2
NA18612.hp2
NA18944.hp1
NA18956.hp2
NA18961.hp2
NA18980.hp2
NA18983.hp2
NA19000.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-20993G>A
c.970-20993G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281985
chr1:2281985 G
G
 GA
GA
 42 a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0148
others(39): Show 
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0002g0027
a0001c0001t0002g0075
a0001c0001t0002g0081
a0001c0001t0002g0109
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0197
a0001c0001t0003g0246
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0090
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0009g0307
a0001c0001t0013g0176
a0001c0001t0015g0136
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0006t0040g0053
 42 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(39): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00735.hp2
HG01257.hp1
HG01975.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp2
HG02258.hp2
HG02273.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03041.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp2
NA18971.hp1
NA18982.hp2
NA19012.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19090.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-20993_970-2099
others(5): Show 
c.970-20993_970-20992insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281985
chr1:2281985 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.970-20992_970-2099
others(27): Show 
c.970-20992_970-20991insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281985
chr1:2281985 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.970-20991_970-2095
others(46): Show 
c.970-20991_970-20950delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281985
chr1:2281988 C
C
 A
A
 3 a0001c0001t0003g0045
a0001c0001t0004g0006
a0001c0001t0053g0082
a0001c0001t0003g0045
a0001c0001t0004g0006
a0001c0001t0053g0082
 3 HG02071.hp1
NA18945.hp1
NA19062.hp1
HG02071.hp1
NA18945.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-20990C>A
c.970-20990C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281988
chr1:2281988 C
C
 CGCCCGAG
others(38): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGAT
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-20950_970-2094
others(49): Show 
c.970-20950_970-20949insAGGATGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281988
chr1:2281988 C
C
 T
T
 93 a0001c0001t0001g0010
a0001c0001t0001g0020
a0001c0001t0001g0021
others(90): Show 
a0001c0001t0001g0010
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0075
a0001c0001t0002g0081
a0001c0001t0002g0109
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0090
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0005g0066
a0001c0001t0005g0198
a0001c0001t0005g0225
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0007g0108
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0006t0040g0053
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01975.hp2
HG01993.hp1
HG02015.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02273.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18946.hp2
NA18948.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18964.hp2
NA18971.hp1
NA18982.hp2
NA18991.hp1
NA19007.hp1
NA19012.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp2
NA19080.hp2
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-20990C>T
c.970-20990C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281988
chr1:2281989 G
G
 A
A
 21 a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
others(18): Show 
a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0004g0017
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0073g0216
a0001c0003t0020g0015
 22 HG00280.hp1
HG00733.hp1
HG01123.hp1
others(19): Show 
HG00280.hp1
HG00733.hp1
HG01123.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02280.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG03516.hp2
NA18612.hp2
NA18944.hp1
NA18956.hp2
NA18961.hp2
NA18980.hp2
NA18983.hp2
NA19000.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-20989G>A
c.970-20989G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281989
chr1:2281991 C
C
 G
G
 20 a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
others(17): Show 
a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0004g0017
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0024g0005
a0001c0001t0073g0216
a0001c0003t0020g0015
 21 HG00280.hp1
HG01123.hp1
HG01261.hp2
others(18): Show 
HG00280.hp1
HG01123.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02280.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG03516.hp2
NA18612.hp2
NA18944.hp1
NA18956.hp2
NA18961.hp2
NA18980.hp2
NA18983.hp2
NA19000.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-20987C>G
c.970-20987C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281991
chr1:2281992 C
C
 CGAGAAGA
others(274): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG
ACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGGAGATCTT
CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAG
AGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0053g0082
a0001c0001t0053g0082
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.970-20972_970-2097
others(285): Show 
c.970-20972_970-20971insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGT
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA
GGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281992
chr1:2281992 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0072g0200
a0001c0001t0072g0200
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-20949_970-2094
others(70): Show 
c.970-20949_970-20948insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281992
chr1:2281992 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0029g0056
a0001c0001t0029g0056
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-20957_970-2095
others(70): Show 
c.970-20957_970-20956insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281992
chr1:2281992 C
C
 CGAGAAGA
others(145): Show 
CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAG
ACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-20975_970-2097
others(156): Show 
c.970-20975_970-20974insTGGTGGCGGAGATCTTCAGAGAGAGG
ATGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTC
AGAGAGAAGACACGTGAGAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281992
chr1:2281992 C
C
 CGAGAAGA
others(234): Show 
CGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0001g0018
a0001c0001t0001g0018
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.970-20975_970-2097
others(245): Show 
c.970-20975_970-20974insTGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC
ACGTGAGAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2281992
chr1:2281992 C
C
 T
T
 27 a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
others(24): Show 
a0001c0001t0001g0001
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0038
a0001c0001t0002g0222
a0001c0001t0002g0277
a0001c0001t0003g0022
a0001c0001t0003g0209
a0001c0001t0004g0017
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0008g0041
a0001c0001t0013g0059
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0060g0058
a0001c0001t0073g0216
a0001c0003t0020g0015
 28 HG00280.hp1
HG00733.hp1
HG01123.hp1
others(25): Show 
HG00280.hp1
HG00733.hp1
HG01123.hp1
HG01169.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG02055.hp2
HG02280.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp2
NA18612.hp2
NA18944.hp1
NA18956.hp2
NA18961.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA19000.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-20986C>T
c.970-20986C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281992
chr1:2281997 A
A
 G
G
 32 a0001c0001t0001g0010
a0001c0001t0001g0020
a0001c0001t0001g0021
others(29): Show 
a0001c0001t0001g0010
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0271
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0019
a0001c0001t0004g0151
a0001c0001t0005g0225
a0001c0001t0006g0142
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0012g0258
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0077g0011
a0001c0003t0020g0014
a0002c0015t0002g0185
 32 HG01261.hp1
HG01361.hp2
HG01515.hp1
others(29): Show 
HG01261.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG02074.hp1
HG02145.hp1
HG02145.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18940.hp1
NA18946.hp2
NA18956.hp1
NA18964.hp2
NA19007.hp1
NA19064.hp1
NA19066.hp1
NA19079.hp2
NA19082.hp2
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20981A>G
c.970-20981A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2281997
chr1:2282002 G
G
 T
T
 1 a0001c0003t0007g0171
a0001c0003t0007g0171
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.970-20976G>T
c.970-20976G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282002
chr1:2282004 C
C
 CGGTGGCG
others(59): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGTGGTGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGT
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.970-20949_970-2094
others(70): Show 
c.970-20949_970-20948insTGGTGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282004
chr1:2282004 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0089
a0001c0001t0005g0207
 2 HG01169.hp1
HG01361.hp1
HG01169.hp1
HG01361.hp1
 intron_variant MODIFIER c.970-20957_970-2095
others(27): Show 
c.970-20957_970-20956insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282004
chr1:2282004 C
C
 T
T
 8 a0001c0001t0001g0165
a0001c0001t0004g0325
a0001c0001t0007g0108
others(5): Show 
a0001c0001t0001g0165
a0001c0001t0004g0325
a0001c0001t0007g0108
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0001t0046g0057
a0001c0001t0073g0216
a0001c0012t0011g0266
 9 HG01081.hp1
HG02280.hp2
HG02723.hp2
others(6): Show 
HG01081.hp1
HG02280.hp2
HG02723.hp2
HG02976.hp2
HG03654.hp1
HG06807.hp2
NA19000.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-20974C>T
c.970-20974C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282004
chr1:2282005 G
G
 A
A
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-20973G>A
c.970-20973G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282005
chr1:2282007 T
T
 C
C
 21 a0001c0001t0001g0271
a0001c0001t0002g0084
a0001c0001t0002g0094
others(18): Show 
a0001c0001t0001g0271
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0003g0045
a0001c0001t0004g0006
a0001c0001t0005g0198
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0010g0092
a0001c0001t0024g0169
a0001c0001t0069g0104
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
 21 HG01109.hp2
HG01257.hp1
HG01884.hp1
others(18): Show 
HG01109.hp2
HG01257.hp1
HG01884.hp1
HG02074.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18945.hp1
NA19030.hp1
NA19062.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20971T>C
c.970-20971T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282007
chr1:2282010 C
C
 CGGAGATC
others(37): Show 
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.970-20950_970-2094
others(48): Show 
c.970-20950_970-20949insAGATGCCCGAGAAGACAGGCGGTGGT
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282010
chr1:2282010 C
C
 T
T
 13 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0119
others(10): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0119
a0001c0001t0001g0255
a0001c0001t0003g0019
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0218
a0001c0001t0005g0225
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0013g0176
a0001c0001t0052g0007
 13 HG00735.hp2
HG01361.hp2
HG01993.hp1
others(10): Show 
HG00735.hp2
HG01361.hp2
HG01993.hp1
HG02145.hp1
HG03209.hp2
HG03710.hp2
HG04184.hp1
NA18946.hp2
NA18982.hp2
NA19007.hp1
NA19064.hp1
NA19068.hp2
NA19082.hp2
 intron_variant MODIFIER c.970-20968C>T
c.970-20968C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282010
chr1:2282013 A
A
 AGATCTTC
others(37): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGC
 1 a0001c0001t0083g0231
a0001c0001t0083g0231
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20950_970-2094
others(48): Show 
c.970-20950_970-20949insAGATGCCCGAGAAGACAGGCGGTGGC
GGCGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282013
chr1:2282013 A
A
 C
C
 10 a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0004g0006
others(7): Show 
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0004g0006
a0001c0001t0010g0092
a0001c0001t0024g0169
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0001c0003t0020g0014
 10 HG01109.hp2
HG02572.hp1
HG02886.hp1
others(7): Show 
HG01109.hp2
HG02572.hp1
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18945.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-20965A>C
c.970-20965A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282013
chr1:2282013 A
A
 T
T
 1 a0001c0001t0001g0271
a0001c0001t0001g0271
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.970-20965A>T
c.970-20965A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282013
chr1:2282020 C
C
 CAG
CAG
 4 a0001c0001t0001g0166
a0001c0001t0005g0161
a0001c0001t0010g0164
others(1): Show 
a0001c0001t0001g0166
a0001c0001t0005g0161
a0001c0001t0010g0164
a0001c0001t0015g0126
 4 HG00609.hp1
HG01993.hp2
HG03831.hp2
others(1): Show 
HG00609.hp1
HG01993.hp2
HG03831.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-20951_970-2095
others(6): Show 
c.970-20951_970-20950dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282020
chr1:2282027 A
A
 C
C
 6 a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0105
others(3): Show 
a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0010g0092
a0001c0001t0024g0169
a0002c0002t0002g0002
 7 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(4): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG02572.hp1
HG03041.hp2
HG03130.hp2
NA19030.hp1
 intron_variant MODIFIER c.970-20951A>C
c.970-20951A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282027
chr1:2282028 G
G
 A
A
 13 a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
others(10): Show 
a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0002g0326
a0001c0001t0003g0045
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0305
a0001c0001t0050g0309
a0001c0001t0062g0257
 14 HG01169.hp1
HG01169.hp2
HG01361.hp1
others(11): Show 
HG01169.hp1
HG01169.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp1
HG02165.hp1
HG02258.hp1
HG02622.hp2
HG03130.hp1
NA18522.hp1
NA18971.hp2
NA19062.hp1
NA20300.hp2
 intron_variant MODIFIER c.970-20950G>A
c.970-20950G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282028
chr1:2282028 G
G
 GA
GA
 41 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0002g0124
others(38): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0204
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0006g0211
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0009g0308
a0001c0001t0010g0208
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0016g0317
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0056g0315
a0001c0001t0076g0113
a0001c0003t0007g0171
a0001c0007t0078g0269
a0001c0009t0004g0064
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 41 HG00642.hp2
HG00673.hp2
HG00733.hp1
others(38): Show 
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02165.hp2
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG03540.hp1
HG03540.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18954.hp1
NA18979.hp1
NA18990.hp2
NA18998.hp2
NA19002.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-20950_970-2094
others(5): Show 
c.970-20950_970-20949insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282028
chr1:2282028 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-20949_970-2094
others(27): Show 
c.970-20949_970-20948insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282028
chr1:2282031 C
C
 CACGTGAG
others(37): Show 
CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-20947_970-2094
others(48): Show 
c.970-20947_970-20946insACGTGAGAAGACAGGCGGTGGCGGAG
ATCTTCAGAGAGAGAGAT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282031
chr1:2282031 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-20944_970-2094
others(48): Show 
c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282031
chr1:2282031 C
C
 T
T
 78 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0255
others(75): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0255
a0001c0001t0002g0027
a0001c0001t0002g0076
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0191
a0001c0001t0003g0204
a0001c0001t0003g0214
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0198
a0001c0001t0006g0131
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0061
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0210
a0001c0001t0009g0100
a0001c0001t0009g0307
a0001c0001t0010g0208
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0015g0136
a0001c0001t0016g0317
a0001c0001t0019g0233
a0001c0001t0021g0250
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0076g0113
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0003t0007g0171
a0001c0003t0020g0014
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0009t0004g0064
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 78 HG00323.hp2
HG00438.hp2
HG00609.hp2
others(75): Show 
HG00323.hp2
HG00438.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02071.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG03098.hp1
HG03453.hp2
HG03490.hp1
HG03540.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18979.hp1
NA18980.hp2
NA18982.hp1
NA18990.hp2
NA18998.hp2
NA19002.hp2
NA19065.hp1
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-20947C>T
c.970-20947C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282031
chr1:2282031 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 C
C
 4 a0001c0001t0006g0080
a0001c0001t0009g0308
a0001c0001t0022g0303
others(1): Show 
a0001c0001t0006g0080
a0001c0001t0009g0308
a0001c0001t0022g0303
a0001c0001t0075g0023
 4 HG00438.hp1
HG03540.hp2
NA18906.hp2
others(1): Show 
HG00438.hp1
HG03540.hp2
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-20863_970-2077
others(91): Show 
c.970-20863_970-20777delAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282031
chr1:2282032 G
G
 A
A
 10 a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
others(7): Show 
a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0007g0305
a0001c0001t0041g0306
a0001c0001t0050g0309
a0001c0001t0062g0257
 11 HG01169.hp1
HG01361.hp1
HG01515.hp2
others(8): Show 
HG01169.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG02165.hp1
HG02258.hp1
HG02622.hp2
HG03486.hp2
NA18522.hp1
NA18971.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-20946G>A
c.970-20946G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282032
chr1:2282034 C
C
 CTGAGAAG
others(213): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAG
AAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACG
 2 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0020
a0001c0001t0001g0021
 2 NA18946.hp2
NA19007.hp1
NA18946.hp2
NA19007.hp1
 intron_variant MODIFIER c.970-20944_970-2094
others(224): Show 
c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282034
chr1:2282034 C
C
 CTGAGAAG
others(59): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC
TTCAGAGAGAAGACACG
 2 a0001c0001t0005g0225
a0001c0001t0052g0007
a0001c0001t0005g0225
a0001c0001t0052g0007
 2 HG01361.hp2
NA19064.hp1
HG01361.hp2
NA19064.hp1
 intron_variant MODIFIER c.970-20944_970-2094
others(70): Show 
c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282034
chr1:2282034 C
C
 G
G
 10 a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
others(7): Show 
a0001c0001t0001g0001
a0001c0001t0001g0304
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0007g0305
a0001c0001t0041g0306
a0001c0001t0050g0309
a0001c0001t0062g0257
 11 HG01169.hp1
HG01361.hp1
HG01515.hp2
others(8): Show 
HG01169.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG02165.hp1
HG02258.hp1
HG02622.hp2
HG03486.hp2
NA18522.hp1
NA18971.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-20944C>G
c.970-20944C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282034
chr1:2282035 C
C
 CGAGAAGA
others(188): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 2 a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0047
a0001c0001t0010g0048
 2 HG00621.hp1
NA19082.hp1
HG00621.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-20929_970-2092
others(199): Show 
c.970-20929_970-20928insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA
CACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282035
chr1:2282035 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0056g0315
a0001c0001t0056g0315
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.970-20906_970-2090
others(70): Show 
c.970-20906_970-20905insTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282035
chr1:2282035 C
C
 CGAGAAGA
others(59): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGT
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.970-20914_970-2091
others(70): Show 
c.970-20914_970-20913insTAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282035
chr1:2282035 C
C
 CGAGAAGA
others(231): Show 
CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCAGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0004g0006
a0001c0001t0004g0006
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.970-20934_970-2093
others(242): Show 
c.970-20934_970-20933insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCAGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282035
chr1:2282035 C
C
 T
T
 24 a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0304
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0075
a0001c0001t0002g0129
a0001c0001t0003g0019
a0001c0001t0005g0089
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0007g0305
a0001c0001t0009g0103
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0023g0139
a0001c0001t0041g0306
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0087g0168
 25 HG00099.hp2
HG01169.hp1
HG01361.hp1
others(22): Show 
HG00099.hp2
HG01169.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02622.hp2
HG02976.hp1
HG03209.hp2
HG03486.hp2
HG03927.hp1
NA18522.hp1
NA18946.hp2
NA18971.hp2
NA18984.hp2
NA19007.hp1
NA19064.hp1
NA19082.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-20943C>T
c.970-20943C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282035
chr1:2282035 CGAGAAGA
others(166): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0008g0193
a0001c0001t0008g0193
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.970-20863_970-2069
others(4): Show 
c.970-20863_970-20691del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282035
chr1:2282040 A
A
 G
G
 17 a0001c0001t0001g0271
a0001c0001t0002g0027
a0001c0001t0002g0094
others(14): Show 
a0001c0001t0001g0271
a0001c0001t0002g0027
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0004g0008
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0009g0100
a0001c0001t0010g0092
a0001c0001t0024g0169
a0001c0001t0053g0082
a0001c0001t0061g0138
a0001c0001t0069g0104
a0001c0003t0020g0014
 17 HG01109.hp2
HG01884.hp1
HG02071.hp1
others(14): Show 
HG01109.hp2
HG01884.hp1
HG02071.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02735.hp2
HG02809.hp2
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03688.hp2
NA18980.hp2
NA18982.hp2
NA19030.hp1
NA19065.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20938A>G
c.970-20938A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282040
chr1:2282047 C
C
 CAGTGGCG
others(16): Show 
CAGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0019g0223
a0001c0001t0019g0223
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-20931_970-2093
others(27): Show 
c.970-20931_970-20930insAGTGGCGGAGATCTTCATAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282047
chr1:2282047 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-20914_970-2091
others(27): Show 
c.970-20914_970-20913insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282047
chr1:2282047 C
C
 T
T
 3 a0001c0001t0005g0089
a0001c0001t0005g0161
a0001c0001t0010g0164
a0001c0001t0005g0089
a0001c0001t0005g0161
a0001c0001t0010g0164
 3 HG01361.hp1
HG01993.hp2
NA19011.hp2
HG01361.hp1
HG01993.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-20931C>T
c.970-20931C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282047
chr1:2282048 G
G
 A
A
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-20930G>A
c.970-20930G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282048
chr1:2282050 T
T
 C
C
 19 a0001c0001t0001g0271
a0001c0001t0002g0093
a0001c0001t0002g0094
others(16): Show 
a0001c0001t0001g0271
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0256
a0001c0001t0003g0204
a0001c0001t0005g0199
a0001c0001t0010g0092
a0001c0001t0012g0067
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0009t0004g0064
a0002c0002t0002g0002
 20 HG00738.hp1
HG00738.hp2
HG00741.hp1
others(17): Show 
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG02572.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
NA18998.hp2
NA19030.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-20928T>C
c.970-20928T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282050
chr1:2282053 C
C
 T
T
 8 a0001c0001t0002g0027
a0001c0001t0002g0101
a0001c0001t0002g0102
others(5): Show 
a0001c0001t0002g0027
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0004g0008
a0001c0001t0009g0100
a0001c0001t0014g0070
a0001c0001t0069g0104
 8 HG01257.hp2
HG01884.hp1
HG02615.hp2
others(5): Show 
HG01257.hp2
HG01884.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
NA18982.hp2
NA19065.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20925C>T
c.970-20925C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282053
chr1:2282056 A
A
 C
C
 12 a0001c0001t0002g0093
a0001c0001t0002g0105
a0001c0001t0002g0256
others(9): Show 
a0001c0001t0002g0093
a0001c0001t0002g0105
a0001c0001t0002g0256
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0002c0002t0002g0002
 13 HG00738.hp1
HG00741.hp1
HG01109.hp2
others(10): Show 
HG00738.hp1
HG00741.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
NA19030.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-20922A>C
c.970-20922A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282056
chr1:2282065 G
G
 T
T
 1 a0001c0001t0009g0103
a0001c0001t0009g0103
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.970-20913G>T
c.970-20913G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282065
chr1:2282070 A
A
 C
C
 9 a0001c0001t0002g0105
a0001c0001t0003g0143
a0001c0001t0010g0092
others(6): Show 
a0001c0001t0002g0105
a0001c0001t0003g0143
a0001c0001t0010g0092
a0001c0001t0024g0169
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
a0002c0002t0002g0002
 10 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(7): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG02027.hp1
HG02572.hp1
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-20908A>C
c.970-20908A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282070
chr1:2282070 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0009g0103
a0001c0001t0009g0103
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.970-20905_970-2088
others(24): Show 
c.970-20905_970-20886delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282070
chr1:2282070 AGGACGCC
others(143): Show 
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
C
 A
A
 1 a0001c0001t0008g0210
a0001c0001t0008g0210
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.970-20905_970-2075
others(4): Show 
c.970-20905_970-20756del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282070
chr1:2282071 G
G
 A
A
 4 a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0012g0258
others(1): Show 
a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0012g0258
a0001c0001t0019g0223
 4 HG01261.hp2
HG01981.hp1
HG03209.hp2
others(1): Show 
HG01261.hp2
HG01981.hp1
HG03209.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-20907G>A
c.970-20907G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282071
chr1:2282071 G
G
 GA
GA
 38 a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0078
others(35): Show 
a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0078
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0002g0123
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0009
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0066
a0001c0001t0005g0207
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0007g0108
a0001c0001t0009g0099
a0001c0001t0012g0215
a0001c0001t0015g0236
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0026g0050
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0001t0086g0286
a0002c0004t0002g0186
a0002c0015t0002g0185
 38 HG00099.hp1
HG00423.hp1
HG00423.hp2
others(35): Show 
HG00099.hp1
HG00423.hp1
HG00423.hp2
HG00733.hp1
HG00741.hp2
HG01169.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01978.hp2
HG02486.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02922.hp1
HG03017.hp2
HG03654.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18944.hp2
NA18954.hp2
NA18962.hp2
NA18983.hp1
NA18984.hp2
NA19030.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19080.hp2
NA19088.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-20907_970-2090
others(5): Show 
c.970-20907_970-20906insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282071
chr1:2282071 GGACGCCC
others(208): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0006g0310
a0001c0001t0006g0310
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.970-20905_970-2069
others(4): Show 
c.970-20905_970-20691del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282071
chr1:2282074 C
C
 A
A
 1 a0001c0001t0028g0055
a0001c0001t0028g0055
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-20904C>A
c.970-20904C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282074
chr1:2282074 C
C
 T
T
 66 a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0078
others(63): Show 
a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0003g0127
a0001c0001t0003g0204
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0004g0006
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0207
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0009g0099
a0001c0001t0010g0208
a0001c0001t0012g0215
a0001c0001t0014g0070
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0139
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0052g0007
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0001t0086g0286
a0001c0009t0004g0064
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 66 HG00099.hp1
HG00423.hp1
HG00423.hp2
others(63): Show 
HG00099.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01074.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02165.hp2
HG02486.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02896.hp2
HG02922.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18954.hp1
NA18954.hp2
NA18962.hp2
NA18983.hp1
NA18984.hp2
NA18990.hp2
NA18998.hp2
NA19002.hp2
NA19030.hp2
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-20904C>T
c.970-20904C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282074
chr1:2282075 G
G
 A
A
 4 a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0003g0251
others(1): Show 
a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0003g0251
a0001c0001t0012g0258
 4 HG01261.hp2
HG01981.hp1
HG02486.hp1
others(1): Show 
HG01261.hp2
HG01981.hp1
HG02486.hp1
HG03209.hp2
 intron_variant MODIFIER c.970-20903G>A
c.970-20903G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282075
chr1:2282077 C
C
 CTGAGAAG
others(102): Show 
CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACG
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-20901_970-2090
others(113): Show 
c.970-20901_970-20900insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282077
chr1:2282077 C
C
 G
G
 3 a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0012g0258
a0001c0001t0001g0254
a0001c0001t0003g0209
a0001c0001t0012g0258
 3 HG01261.hp2
HG01981.hp1
HG03209.hp2
HG01261.hp2
HG01981.hp1
HG03209.hp2
 intron_variant MODIFIER c.970-20901C>G
c.970-20901C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282077
chr1:2282078 C
C
 CGAGAAGA
others(165): Show 
CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG
GTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.970-20886_970-2088
others(176): Show 
c.970-20886_970-20885insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282078 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0018g0028
a0001c0001t0018g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.970-20864_970-2086
others(47): Show 
c.970-20864_970-20863insGACGCCTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282078 C
C
 CGAGAAGA
others(278): Show 
CGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT
TCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGGAGATCTTCAGAG
AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTG
GCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAT
AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.970-20889_970-2088
others(289): Show 
c.970-20889_970-20888insTGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282078 C
C
 CGAGAGGA
others(145): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGT
 1 a0002c0002t0002g0002
a0002c0002t0002g0002
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.970-20896_970-2089
others(156): Show 
c.970-20896_970-20895insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282078 C
C
 CGAGAGGA
others(512): Show 
CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGT
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-20896_970-2089
others(523): Show 
c.970-20896_970-20895insGGACAGGCGGCGGCGGAGATCTTCAG
AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG
ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA
GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
AGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282078 C
C
 T
T
 38 a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0165
others(35): Show 
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0165
a0001c0001t0001g0254
a0001c0001t0002g0027
a0001c0001t0002g0081
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0003g0251
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0005g0206
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0007g0098
a0001c0001t0009g0100
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0014g0229
a0001c0001t0016g0298
a0001c0001t0060g0058
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0080g0043
a0001c0001t0085g0263
a0001c0001t0087g0168
a0001c0003t0020g0014
 38 HG00280.hp2
HG00738.hp2
HG01070.hp2
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01070.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01261.hp2
HG01884.hp1
HG01975.hp1
HG01981.hp1
HG02109.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp2
HG03710.hp1
NA18747.hp2
NA18942.hp1
NA18948.hp2
NA18959.hp2
NA18990.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19065.hp1
NA19079.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-20900C>T
c.970-20900C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282078
chr1:2282078 CGAGAAGA
others(123): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 C
C
 2 a0001c0001t0005g0161
a0001c0001t0025g0122
a0001c0001t0005g0161
a0001c0001t0025g0122
 2 HG01993.hp2
NA18964.hp2
HG01993.hp2
NA18964.hp2
 intron_variant MODIFIER c.970-20863_970-2073
others(4): Show 
c.970-20863_970-20734del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282078
chr1:2282083 A
A
 AGACAGGC
others(36): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
 2 a0001c0001t0003g0046
a0001c0003t0007g0171
a0001c0001t0003g0046
a0001c0003t0007g0171
 2 HG02630.hp1
NA19063.hp2
HG02630.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20886_970-2088
others(47): Show 
c.970-20886_970-20885insCGGCGGCGATCTTCAGAGAGCGGACG
CCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282083
chr1:2282083 A
A
 G
G
 11 a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0105
others(8): Show 
a0001c0001t0001g0271
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0004g0006
a0001c0001t0010g0092
a0001c0001t0024g0169
a0001c0001t0052g0007
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0009g0173
 11 HG01109.hp2
HG02572.hp1
HG02886.hp1
others(8): Show 
HG01109.hp2
HG02572.hp1
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03486.hp1
NA18945.hp1
NA19030.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-20895A>G
c.970-20895A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282083
chr1:2282088 G
G
 T
T
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-20890G>T
c.970-20890G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282088
chr1:2282090 C
C
 CGGTGGCG
others(231): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-20864_970-2086
others(242): Show 
c.970-20864_970-20863insGACGCCTGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA
GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG
CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT
CTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282090
chr1:2282090 C
C
 T
T
 3 a0001c0001t0003g0209
a0001c0001t0004g0025
a0001c0001t0084g0112
a0001c0001t0003g0209
a0001c0001t0004g0025
a0001c0001t0084g0112
 3 HG01261.hp2
HG03490.hp1
NA19063.hp1
HG01261.hp2
HG03490.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-20888C>T
c.970-20888C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282090
chr1:2282093 T
T
 C
C
 16 a0001c0001t0002g0093
a0001c0001t0002g0105
a0001c0001t0002g0256
others(13): Show 
a0001c0001t0002g0093
a0001c0001t0002g0105
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 16 HG00738.hp1
HG00741.hp1
HG01109.hp2
others(13): Show 
HG00738.hp1
HG00741.hp1
HG01109.hp2
HG02572.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
NA18980.hp1
NA19030.hp1
NA19043.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20885T>C
c.970-20885T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282093
chr1:2282096 C
C
 T
T
 6 a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0004g0009
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0004g0009
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
 7 HG00423.hp2
HG02723.hp2
HG02976.hp2
others(4): Show 
HG00423.hp2
HG02723.hp2
HG02976.hp2
HG03041.hp2
NA19043.hp2
NA19068.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-20882C>T
c.970-20882C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282096
chr1:2282097 G
G
 A
A
 1 a0001c0001t0001g0271
a0001c0001t0001g0271
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.970-20881G>A
c.970-20881G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282097
chr1:2282099 A
A
 C
C
 12 a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0009g0296
others(9): Show 
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0019g0233
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 12 HG00738.hp1
HG00741.hp1
HG01099.hp1
others(9): Show 
HG00738.hp1
HG00741.hp1
HG01099.hp1
HG02572.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03130.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-20879A>C
c.970-20879A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282099
chr1:2282108 G
G
 T
T
 7 a0001c0001t0001g0271
a0001c0001t0002g0101
a0001c0001t0002g0102
others(4): Show 
a0001c0001t0001g0271
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0009g0100
a0001c0001t0069g0104
a0001c0003t0020g0014
 7 HG01884.hp1
HG02615.hp2
HG02647.hp1
others(4): Show 
HG01884.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03130.hp2
HG03453.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-20870G>T
c.970-20870G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282108
chr1:2282110 G
G
 A
A
 1 a0001c0001t0010g0047
a0001c0001t0010g0047
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.970-20868G>A
c.970-20868G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282110
chr1:2282113 A
A
 C
C
 1 a0001c0001t0010g0092
a0001c0001t0010g0092
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.970-20865A>C
c.970-20865A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282113
chr1:2282113 AG
AG
 A
A
 9 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0209
others(6): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0003g0209
a0001c0001t0005g0089
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0081g0083
a0001c0001t0083g0231
 9 HG01261.hp2
HG01361.hp1
HG01884.hp2
others(6): Show 
HG01261.hp2
HG01361.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp2
NA18946.hp2
NA18982.hp1
NA19007.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20864delG
c.970-20864delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282113
chr1:2282113 AGAGATGC
others(14): Show 
AGAGATGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0001g0271
a0001c0001t0058g0297
a0001c0001t0001g0271
a0001c0001t0058g0297
 2 HG02559.hp1
HG03130.hp2
HG02559.hp1
HG03130.hp2
 intron_variant MODIFIER c.970-20863_970-2084
others(25): Show 
c.970-20863_970-20843delAGATGCCCGAGAAGACAGGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282113
chr1:2282114 G
G
 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0015g0126
a0001c0001t0015g0126
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.970-20864_970-2086
others(46): Show 
c.970-20864_970-20863insGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282114
chr1:2282114 G
G
 GGATGCCC
others(273): Show 
GGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG
GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA
CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGTGGTGGCGGAGATCTTCAGAGAGA
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-20864_970-2086
others(284): Show 
c.970-20864_970-20863insGATGCCCGAGAAGACAGGCGGTGGTG
GAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGA
GAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG
CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGA
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282114
chr1:2282114 G
G
 GGTGGCGG
others(15): Show 
GGTGGCGGAGATCTTCAGAGAGA
 6 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
others(3): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0009g0100
a0001c0001t0069g0104
a0001c0003t0020g0014
 6 HG01884.hp1
HG02615.hp2
HG02647.hp1
others(3): Show 
HG01884.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03453.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-20864_970-2086
others(26): Show 
c.970-20864_970-20863insGTGGCGGAGATCTTCAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282114
chr1:2282114 GA
GA
 G
G
 171 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(168): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0214
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0070g0074
a0001c0001t0074g0192
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0003c0013t0032g0178
 174 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(171): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-20863delA
c.970-20863delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282114
chr1:2282115 A
A
 AGATGCCC
others(36): Show 
AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.970-20860_970-2081
others(47): Show 
c.970-20860_970-20818dupTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282115
chr1:2282115 A
A
 AGATGCCC
others(79): Show 
AGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-20839_970-2083
others(90): Show 
c.970-20839_970-20838insTGGAGATCTTCAGAGAGAGGATGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA
CAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282115
chr1:2282115 A
A
 G
G
 2 a0001c0001t0001g0255
a0001c0001t0015g0126
a0001c0001t0001g0255
a0001c0001t0015g0126
 2 HG00609.hp1
HG01993.hp1
HG00609.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-20863A>G
c.970-20863A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282115
chr1:2282118 T
T
 A
A
 2 a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0029g0056
a0001c0001t0030g0054
 2 HG03516.hp1
NA19043.hp1
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-20860T>A
c.970-20860T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282118
chr1:2282118 T
T
 C
C
 160 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0018
others(157): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0110
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0002g0027
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0268
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0004
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0265
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0023g0139
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0007t0078g0269
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0003c0013t0032g0178
 163 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(160): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp2
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20860T>C
c.970-20860T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282118
chr1:2282118 T
T
 TGCCCGAG
others(36): Show 
TGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAC
 1 a0001c0001t0072g0200
a0001c0001t0072g0200
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-20842_970-2084
others(47): Show 
c.970-20842_970-20841insCGGCGGAGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282118
chr1:2282118 T
T
 TGCCCGAG
others(79): Show 
TGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 1 a0001c0001t0008g0196
a0001c0001t0008g0196
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.970-20842_970-2084
others(90): Show 
c.970-20842_970-20841insCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA
AGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282118
chr1:2282118 T
T
 TGCCCGAG
others(36): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 2 a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0003g0290
a0001c0001t0003g0291
 2 NA19007.hp2
NA19067.hp2
NA19007.hp2
NA19067.hp2
 intron_variant MODIFIER c.970-20813_970-2077
others(47): Show 
c.970-20813_970-20771dupCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282118
chr1:2282118 T
T
 TGCCCGAG
others(188): Show 
TGCCCGAGAGGACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCA
GAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG
GATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 1 a0001c0001t0061g0138
a0001c0001t0061g0138
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.970-20852_970-2085
others(199): Show 
c.970-20852_970-20851insGGACAGGCAGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282118
chr1:2282118 TGCCCGAG
others(251): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGAC
 T
T
 1 a0001c0001t0008g0202
a0001c0001t0008g0202
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.970-20817_970-2056
others(4): Show 
c.970-20817_970-20560del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282118
chr1:2282119 G
G
 A
A
 15 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0101
others(12): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0209
a0001c0001t0005g0089
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0069g0104
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0014
 15 HG01261.hp2
HG01361.hp1
HG01884.hp1
others(12): Show 
HG01261.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG02145.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03209.hp2
HG03453.hp2
NA18946.hp2
NA18982.hp1
NA19007.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20859G>A
c.970-20859G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282119
chr1:2282119 G
G
 C
C
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-20859G>C
c.970-20859G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282119
chr1:2282121 C
C
 G
G
 15 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0101
others(12): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0003g0209
a0001c0001t0005g0089
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0069g0104
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0014
 15 HG01261.hp2
HG01361.hp1
HG01884.hp1
others(12): Show 
HG01261.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG02145.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG03209.hp2
HG03453.hp2
NA18946.hp2
NA18982.hp1
NA19007.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20857C>G
c.970-20857C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282121
chr1:2282122 C
C
 CGAGAAGA
others(362): Show 
CGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
GGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACATGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGT
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-20842_970-2084
others(373): Show 
c.970-20842_970-20841insCGGCGGAGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA
TGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCG
GCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282122
chr1:2282122 C
C
 CGAGAGGA
others(102): Show 
CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA
GAAGACACGT
 1 a0001c0001t0024g0169
a0001c0001t0024g0169
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-20852_970-2085
others(113): Show 
c.970-20852_970-20851insGGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG
TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282122
chr1:2282122 C
C
 T
T
 30 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(27): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0001g0299
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0222
a0001c0001t0003g0209
a0001c0001t0004g0017
a0001c0001t0005g0089
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0012g0258
a0001c0001t0014g0051
a0001c0001t0069g0104
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0003t0020g0014
a0001c0014t0001g0174
a0003c0013t0032g0178
 30 HG00280.hp1
HG01123.hp1
HG01261.hp2
others(27): Show 
HG00280.hp1
HG01123.hp1
HG01261.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG02004.hp2
HG02055.hp2
HG02145.hp1
HG02165.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02809.hp2
HG02897.hp1
HG03041.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03654.hp2
NA18612.hp2
NA18946.hp2
NA18956.hp2
NA18961.hp2
NA18982.hp1
NA19007.hp1
NA19091.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20856C>T
c.970-20856C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282122
chr1:2282122 CGAGAAGA
others(79): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 C
C
 10 a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0003g0280
others(7): Show 
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0003g0280
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0021g0250
a0001c0001t0025g0238
a0001c0001t0076g0113
a0001c0001t0082g0156
a0001c0001t0087g0168
 10 HG00621.hp2
HG00673.hp2
HG00733.hp1
others(7): Show 
HG00621.hp2
HG00673.hp2
HG00733.hp1
HG01258.hp2
HG02074.hp2
HG02976.hp1
HG03831.hp2
NA18612.hp1
NA18942.hp2
NA18964.hp1
 intron_variant MODIFIER c.970-20684_970-2059
others(90): Show 
c.970-20684_970-20599delTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282122
chr1:2282127 A
A
 AGACAGGC
others(209): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG
GCAGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGAT
CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGA
GAGCGGACGCCCGAGAG
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-20842_970-2084
others(220): Show 
c.970-20842_970-20841insCGGCGGCGATCTTCAGAGAGAGAGAT
GCCCGAGAAGACAGGCAGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG
AAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG
GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG
CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282127
chr1:2282127 A
A
 G
G
 4 a0001c0001t0002g0105
a0001c0001t0003g0046
a0001c0001t0010g0092
others(1): Show 
a0001c0001t0002g0105
a0001c0001t0003g0046
a0001c0001t0010g0092
a0001c0001t0011g0265
 4 HG01109.hp2
HG02572.hp1
HG02630.hp2
others(1): Show 
HG01109.hp2
HG02572.hp1
HG02630.hp2
NA19063.hp2
 intron_variant MODIFIER c.970-20851A>G
c.970-20851A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282127
chr1:2282134 C
C
 T
T
 3 a0001c0001t0001g0165
a0001c0001t0003g0204
a0001c0001t0005g0089
a0001c0001t0001g0165
a0001c0001t0003g0204
a0001c0001t0005g0089
 3 HG01081.hp1
HG01346.hp1
HG01361.hp1
HG01081.hp1
HG01346.hp1
HG01361.hp1
 intron_variant MODIFIER c.970-20844C>T
c.970-20844C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282134
chr1:2282137 T
T
 C
C
 15 a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0256
others(12): Show 
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0256
a0001c0001t0003g0130
a0001c0001t0005g0198
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0018g0147
a0001c0001t0019g0233
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0003c0013t0032g0178
 15 HG00738.hp1
HG00741.hp1
HG01257.hp1
others(12): Show 
HG00738.hp1
HG00741.hp1
HG01257.hp1
HG02074.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03654.hp2
NA18967.hp2
NA19002.hp1
 intron_variant MODIFIER c.970-20841T>C
c.970-20841T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282137
chr1:2282140 C
C
 CGGAGATC
others(79): Show 
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGAT
CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-20818_970-2081
others(90): Show 
c.970-20818_970-20817insTGCCCGAGAAGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282140
chr1:2282140 C
C
 T
T
 17 a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0132
others(14): Show 
a0001c0001t0001g0010
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0002g0105
a0001c0001t0002g0277
a0001c0001t0003g0046
a0001c0001t0004g0151
a0001c0001t0006g0142
a0001c0001t0006g0324
a0001c0001t0013g0176
a0001c0001t0014g0144
a0001c0001t0023g0091
a0001c0001t0037g0012
a0001c0001t0068g0145
a0001c0001t0077g0011
 17 HG00735.hp2
HG01109.hp2
HG01169.hp2
others(14): Show 
HG00735.hp2
HG01109.hp2
HG01169.hp2
HG02145.hp2
HG03017.hp1
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18940.hp1
NA18956.hp1
NA18983.hp2
NA19063.hp2
NA19066.hp1
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-20838C>T
c.970-20838C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282140
chr1:2282143 A
A
 C
C
 11 a0001c0001t0002g0256
a0001c0001t0003g0130
a0001c0001t0011g0265
others(8): Show 
a0001c0001t0002g0256
a0001c0001t0003g0130
a0001c0001t0011g0265
a0001c0001t0018g0147
a0001c0001t0019g0233
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0003c0013t0032g0178
 11 HG00738.hp1
HG00741.hp1
HG02630.hp1
others(8): Show 
HG00738.hp1
HG00741.hp1
HG02630.hp1
HG02630.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03654.hp2
NA18967.hp2
NA19002.hp1
 intron_variant MODIFIER c.970-20835A>C
c.970-20835A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282143
chr1:2282150 C
C
 CAGAGAGA
others(38): Show 
CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAT
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-20818_970-2081
others(49): Show 
c.970-20818_970-20817insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCATAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282150
chr1:2282152 G
G
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.970-20826G>T
c.970-20826G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282152
chr1:2282152 GAGAGAGG
others(34): Show 
GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
 G
G
 1 a0001c0001t0003g0163
a0001c0001t0003g0163
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.970-20819_970-2077
others(45): Show 
c.970-20819_970-20779delGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282152
chr1:2282157 A
A
 C
C
 2 a0001c0001t0003g0130
a0001c0001t0018g0147
a0001c0001t0003g0130
a0001c0001t0018g0147
 2 NA18967.hp2
NA19002.hp1
NA18967.hp2
NA19002.hp1
 intron_variant MODIFIER c.970-20821A>C
c.970-20821A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282157
chr1:2282157 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 3 a0001c0001t0002g0094
a0001c0001t0004g0325
a0001c0001t0009g0307
a0001c0001t0002g0094
a0001c0001t0004g0325
a0001c0001t0009g0307
 3 HG02280.hp2
HG03041.hp2
HG03098.hp1
HG02280.hp2
HG03041.hp2
HG03098.hp1
 intron_variant MODIFIER c.970-20818_970-2079
others(24): Show 
c.970-20818_970-20799delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282157
chr1:2282158 G
G
 A
A
 3 a0001c0001t0001g0271
a0001c0001t0005g0089
a0001c0001t0079g0128
a0001c0001t0001g0271
a0001c0001t0005g0089
a0001c0001t0079g0128
 3 HG01361.hp1
HG03130.hp2
NA18950.hp2
HG01361.hp1
HG03130.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-20820G>A
c.970-20820G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282158
chr1:2282158 G
G
 GA
GA
 33 a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0029
others(30): Show 
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0003g0022
a0001c0001t0003g0116
a0001c0001t0003g0251
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0004g0248
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0324
a0001c0001t0007g0133
a0001c0001t0008g0042
a0001c0001t0015g0201
a0001c0001t0019g0223
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0053g0082
a0001c0001t0084g0112
a0001c0001t0088g0120
a0002c0004t0001g0187
a0002c0004t0001g0188
 33 HG00280.hp1
HG00673.hp1
HG01123.hp1
others(30): Show 
HG00280.hp1
HG00673.hp1
HG01123.hp1
HG01169.hp2
HG01243.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp1
HG03490.hp1
HG03579.hp1
HG04115.hp2
NA18612.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18995.hp2
NA19091.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.970-20820_970-2081
others(5): Show 
c.970-20820_970-20819insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282158
chr1:2282161 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 2 a0001c0001t0003g0031
a0001c0001t0080g0043
a0001c0001t0003g0031
a0001c0001t0080g0043
 2 NA18959.hp2
NA19090.hp2
NA18959.hp2
NA19090.hp2
 intron_variant MODIFIER c.970-20771_970-2077
others(91): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282161
chr1:2282161 C
C
 CGCCCGAG
others(341): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0002c0002t0055g0183
a0002c0002t0055g0183
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(352): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282161
chr1:2282161 C
C
 CGCCCGAG
others(36): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0013g0079
a0001c0001t0013g0079
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.970-20775_970-2077
others(47): Show 
c.970-20775_970-20774insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282161
chr1:2282161 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0013g0069
a0001c0001t0013g0069
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.970-20796_970-2079
others(91): Show 
c.970-20796_970-20795insTGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAG
ACAGGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282161
chr1:2282161 C
C
 T
T
 76 a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0029
others(73): Show 
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0213
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0243
a0001c0001t0003g0251
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0248
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0133
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0012g0155
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0019g0223
a0001c0001t0019g0249
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0028g0055
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0079g0128
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0014t0001g0174
a0002c0004t0001g0187
a0002c0004t0001g0188
 76 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(73): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00673.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp1
HG01169.hp2
HG01243.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02897.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18950.hp2
NA18954.hp2
NA18956.hp2
NA18961.hp2
NA18971.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp2
NA18991.hp2
NA18995.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-20817C>T
c.970-20817C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282161
chr1:2282161 CGCCCGAG
others(251): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGAT
 C
C
 3 a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0012g0067
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0012g0067
 3 HG00738.hp2
HG02258.hp2
NA19070.hp1
HG00738.hp2
HG02258.hp2
NA19070.hp1
 intron_variant MODIFIER c.970-20752_970-2049
others(4): Show 
c.970-20752_970-20495del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282161
chr1:2282162 G
G
 A
A
 2 a0001c0001t0001g0271
a0001c0001t0005g0089
a0001c0001t0001g0271
a0001c0001t0005g0089
 2 HG01361.hp1
HG03130.hp2
HG01361.hp1
HG03130.hp2
 intron_variant MODIFIER c.970-20816G>A
c.970-20816G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282162
chr1:2282164 C
C
 G
G
 2 a0001c0001t0001g0271
a0001c0001t0005g0089
a0001c0001t0001g0271
a0001c0001t0005g0089
 2 HG01361.hp1
HG03130.hp2
HG01361.hp1
HG03130.hp2
 intron_variant MODIFIER c.970-20814C>G
c.970-20814C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282164
chr1:2282165 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAAGACACGT
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-20802_970-2080
others(47): Show 
c.970-20802_970-20801insTGGTGGCGGAGATCTTCAGAGAGAAG
ACACGTGAGAAGACAGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282165
chr1:2282165 C
C
 T
T
 9 a0001c0001t0001g0271
a0001c0001t0002g0076
a0001c0001t0002g0105
others(6): Show 
a0001c0001t0001g0271
a0001c0001t0002g0076
a0001c0001t0002g0105
a0001c0001t0003g0046
a0001c0001t0005g0089
a0001c0001t0005g0225
a0001c0001t0007g0098
a0001c0001t0016g0298
a0001c0001t0075g0023
 9 HG00323.hp2
HG00438.hp1
HG01109.hp2
others(6): Show 
HG00323.hp2
HG00438.hp1
HG01109.hp2
HG01361.hp1
HG01361.hp2
HG02922.hp2
HG03130.hp2
NA19063.hp2
NA19240.hp1
 intron_variant MODIFIER c.970-20813C>T
c.970-20813C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282165
chr1:2282165 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 C
C
 3 a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0013g0176
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0013g0176
 3 HG00735.hp2
NA18944.hp1
NA21309.hp1
HG00735.hp2
NA18944.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-20770_970-2072
others(47): Show 
c.970-20770_970-20728delTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282165
chr1:2282170 A
A
 AGACAGGC
others(36): Show 
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG
 1 a0001c0001t0014g0070
a0001c0001t0014g0070
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.970-20775_970-2077
others(47): Show 
c.970-20775_970-20774insTGCCCGAGAGGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282170
chr1:2282170 A
A
 G
G
 9 a0001c0001t0002g0093
a0001c0001t0003g0045
a0001c0001t0003g0130
others(6): Show 
a0001c0001t0002g0093
a0001c0001t0003g0045
a0001c0001t0003g0130
a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0010g0092
a0001c0001t0011g0265
a0001c0001t0018g0147
a0001c0001t0028g0055
 9 HG02572.hp1
HG02630.hp2
HG03471.hp2
others(6): Show 
HG02572.hp1
HG02630.hp2
HG03471.hp2
NA18967.hp2
NA19002.hp1
NA19062.hp1
NA19084.hp1
NA19084.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-20808A>G
c.970-20808A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282170
chr1:2282177 C
C
 CGGTGGCG
others(81): Show 
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-20771_970-2077
others(92): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG
AGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282177
chr1:2282177 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 2 a0001c0001t0003g0046
a0001c0001t0004g0025
a0001c0001t0003g0046
a0001c0001t0004g0025
 2 NA19063.hp1
NA19063.hp2
NA19063.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20784_970-2078
others(27): Show 
c.970-20784_970-20783insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282177
chr1:2282180 T
T
 C
C
 14 a0001c0001t0002g0203
a0001c0001t0002g0256
a0001c0001t0003g0130
others(11): Show 
a0001c0001t0002g0203
a0001c0001t0002g0256
a0001c0001t0003g0130
a0001c0001t0008g0196
a0001c0001t0011g0265
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0009t0004g0064
 14 HG00738.hp1
HG00741.hp1
HG01981.hp2
others(11): Show 
HG00738.hp1
HG00741.hp1
HG01981.hp2
HG02630.hp1
HG02630.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
NA18959.hp1
NA18967.hp2
NA18998.hp2
NA19002.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20798T>C
c.970-20798T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282180
chr1:2282183 C
C
 CGGAGATC
others(37): Show 
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-20777_970-2077
others(48): Show 
c.970-20777_970-20776insAGATGCCCGAGAAGACAGGCGGTGGT
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282183
chr1:2282183 C
C
 CGGAGATC
others(335): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(346): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCT
TCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282183
chr1:2282183 C
C
 T
T
 16 a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0003g0116
others(13): Show 
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0010g0092
a0001c0001t0013g0177
a0001c0001t0046g0057
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0079g0128
a0003c0013t0032g0178
 16 HG00735.hp1
HG01074.hp1
HG01169.hp2
others(13): Show 
HG00735.hp1
HG01074.hp1
HG01169.hp2
HG01261.hp1
HG02071.hp1
HG02572.hp1
HG02735.hp2
HG03471.hp2
HG03654.hp2
HG04199.hp1
HG06807.hp2
NA18950.hp2
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-20795C>T
c.970-20795C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282183
chr1:2282186 A
A
 C
C
 4 a0001c0001t0002g0256
a0001c0001t0010g0096
a0001c0001t0019g0223
others(1): Show 
a0001c0001t0002g0256
a0001c0001t0010g0096
a0001c0001t0019g0223
a0001c0001t0019g0233
 4 HG00738.hp1
HG00741.hp1
HG02055.hp1
others(1): Show 
HG00738.hp1
HG00741.hp1
HG02055.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20792A>C
c.970-20792A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282186
chr1:2282193 C
C
 CAG
CAG
 4 a0001c0001t0001g0278
a0001c0001t0003g0158
a0001c0001t0003g0204
others(1): Show 
a0001c0001t0001g0278
a0001c0001t0003g0158
a0001c0001t0003g0204
a0001c0001t0054g0159
 4 HG01346.hp1
HG01928.hp2
HG01952.hp2
others(1): Show 
HG01346.hp1
HG01928.hp2
HG01952.hp2
NA19062.hp2
 intron_variant MODIFIER c.970-20778_970-2077
others(6): Show 
c.970-20778_970-20777dupAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282193
chr1:2282195 G
G
 T
T
 2 a0001c0001t0002g0105
a0001c0001t0011g0265
a0001c0001t0002g0105
a0001c0001t0011g0265
 2 HG01109.hp2
HG02630.hp2
HG01109.hp2
HG02630.hp2
 intron_variant MODIFIER c.970-20783G>T
c.970-20783G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282195
chr1:2282200 A
A
 AGGAAGCC
others(165): Show 
AGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC
CCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG
GACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC
GGCGGCGGCGATCTTCAGAGAGC
 1 a0001c0001t0019g0233
a0001c0001t0019g0233
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.970-20775_970-2077
others(176): Show 
c.970-20775_970-20774insAGCCCGAGAAGACAGGCGGCGGCGGC
GATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTC
AGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282200
chr1:2282200 A
A
 C
C
 5 a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
others(2): Show 
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 5 HG02630.hp1
HG02886.hp1
HG03041.hp1
others(2): Show 
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.970-20778A>C
c.970-20778A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282200
chr1:2282200 AGGACGCC
others(13): Show 
AGGACGCCTGAGAAGACAGGC
 A
A
 2 a0001c0001t0002g0105
a0001c0001t0011g0265
a0001c0001t0002g0105
a0001c0001t0011g0265
 2 HG01109.hp2
HG02630.hp2
HG01109.hp2
HG02630.hp2
 intron_variant MODIFIER c.970-20775_970-2075
others(24): Show 
c.970-20775_970-20756delACGCCTGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282200
chr1:2282200 AGGACGCC
others(56): Show 
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGC
 A
A
 1 a0001c0001t0034g0190
a0001c0001t0034g0190
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.970-20775_970-2071
others(67): Show 
c.970-20775_970-20713delACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282200
chr1:2282200 AGGACGCC
others(142): Show 
AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC
 A
A
 1 a0001c0001t0015g0201
a0001c0001t0015g0201
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.970-20775_970-2062
others(4): Show 
c.970-20775_970-20627del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282200
chr1:2282201 G
G
 A
A
 5 a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
others(2): Show 
a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0009g0307
 5 HG01361.hp1
HG02280.hp2
HG03041.hp2
others(2): Show 
HG01361.hp1
HG02280.hp2
HG03041.hp2
HG03098.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20777G>A
c.970-20777G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282201
chr1:2282201 G
G
 GA
GA
 37 a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0254
others(34): Show 
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0003g0127
a0001c0001t0003g0197
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0219
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0006g0211
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0236
a0001c0001t0026g0050
a0001c0001t0042g0319
a0001c0001t0047g0293
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0074g0192
a0001c0005t0003g0137
a0001c0011t0039g0071
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 37 HG00423.hp1
HG00621.hp1
HG00642.hp2
others(34): Show 
HG00423.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp2
HG01169.hp1
HG01243.hp1
HG01361.hp2
HG01891.hp2
HG01981.hp1
HG01993.hp1
HG02273.hp2
HG02280.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG03540.hp1
HG03579.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18945.hp1
NA18954.hp1
NA18983.hp1
NA18990.hp2
NA19002.hp2
NA19012.hp1
NA19030.hp2
NA19067.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-20777_970-2077
others(5): Show 
c.970-20777_970-20776insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282201
chr1:2282201 G
G
 GGACGCCC
others(59): Show 
GGACGCCCGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCG
GAGATCTTCAGAGAGAA
 1 a0001c0001t0083g0231
a0001c0001t0083g0231
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(70): Show 
c.970-20771_970-20770insCGAGAAGACAGGCAGTGGCGGAGATC
TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282201
chr1:2282201 G
G
 GGATGCCC
others(123): Show 
GGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0004g0218
a0001c0001t0004g0218
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.970-20775_970-2077
others(134): Show 
c.970-20775_970-20774insTGCCCGAGAAGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282201
chr1:2282201 G
G
 GGTGGCGG
others(16): Show 
GGTGGCGGAGATCTTCAGAGAGAA
 1 a0001c0001t0044g0292
a0001c0001t0044g0292
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.970-20776_970-2077
others(27): Show 
c.970-20776_970-20775insTGGCGGAGATCTTCAGAGAGAAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282201
chr1:2282201 GGACGCCT
others(35): Show 
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 2 a0001c0001t0003g0246
a0001c0001t0027g0245
a0001c0001t0003g0246
a0001c0001t0027g0245
 2 NA19074.hp2
NA19090.hp1
NA19074.hp2
NA19090.hp1
 intron_variant MODIFIER c.970-20775_970-2073
others(46): Show 
c.970-20775_970-20734delACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282201
chr1:2282201 GGACGCCT
others(164): Show 
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGA
 G
G
 2 a0001c0001t0002g0318
a0001c0001t0007g0302
a0001c0001t0002g0318
a0001c0001t0007g0302
 2 HG02615.hp1
HG03834.hp1
HG02615.hp1
HG03834.hp1
 intron_variant MODIFIER c.970-20775_970-2060
others(4): Show 
c.970-20775_970-20605del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282201
chr1:2282204 C
C
 A
A
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.970-20774C>A
c.970-20774C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282204
chr1:2282204 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 6 a0001c0001t0001g0110
a0001c0001t0002g0124
a0001c0001t0003g0213
others(3): Show 
a0001c0001t0001g0110
a0001c0001t0002g0124
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0002c0015t0002g0185
 6 HG01081.hp2
HG01256.hp2
HG01515.hp1
others(3): Show 
HG01081.hp2
HG01256.hp2
HG01515.hp1
HG01975.hp2
HG02165.hp2
HG03239.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(48): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282204
chr1:2282204 C
C
 CGCCCGAG
others(384): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT
GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG
AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-20771_970-2077
others(395): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282204
chr1:2282204 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 2 a0001c0001t0007g0162
a0001c0001t0015g0136
a0001c0001t0007g0162
a0001c0001t0015g0136
 2 HG02300.hp2
HG04204.hp1
HG02300.hp2
HG04204.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(91): Show 
c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282204
chr1:2282204 C
C
 T
T
 55 a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0254
others(52): Show 
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0084
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0197
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0251
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0006g0211
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0208
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0060
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0026g0050
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0061g0138
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0074g0192
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0011t0039g0071
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
 55 HG00280.hp2
HG00423.hp1
HG00621.hp1
others(52): Show 
HG00280.hp2
HG00423.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp2
HG01169.hp1
HG01243.hp1
HG01257.hp1
HG01361.hp2
HG01891.hp2
HG01981.hp1
HG01993.hp1
HG02074.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18945.hp1
NA18954.hp1
NA18967.hp2
NA18983.hp1
NA18990.hp2
NA19002.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19067.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19091.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-20774C>T
c.970-20774C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282204
chr1:2282205 G
G
 A
A
 6 a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0009g0307
a0001c0001t0044g0292
 6 HG01243.hp2
HG01361.hp1
HG02280.hp2
others(3): Show 
HG01243.hp2
HG01361.hp1
HG02280.hp2
HG03041.hp2
HG03098.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20773G>A
c.970-20773G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282205
chr1:2282207 C
C
 CCGAGAGG
others(102): Show 
CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAA
GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG
AGAAGACACG
 2 a0001c0001t0003g0130
a0001c0001t0018g0147
a0001c0001t0003g0130
a0001c0001t0018g0147
 2 NA18967.hp2
NA19002.hp1
NA18967.hp2
NA19002.hp1
 intron_variant MODIFIER c.970-20771_970-2077
others(113): Show 
c.970-20771_970-20770insCGAGAGGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG
AGAGGTGGCGGAGATCTTCAGAGAGAAGACACG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282207
chr1:2282207 C
C
 G
G
 6 a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0003g0046
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0009g0307
a0001c0001t0044g0292
 6 HG01243.hp2
HG01361.hp1
HG02280.hp2
others(3): Show 
HG01243.hp2
HG01361.hp1
HG02280.hp2
HG03041.hp2
HG03098.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20771C>G
c.970-20771C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282207
chr1:2282208 T
T
 C
C
 256 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(253): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0198
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0196
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 258 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(255): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20770T>C
c.970-20770T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282208
chr1:2282208 T
T
 TGAGAAGA
others(37): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC
 1 a0001c0001t0007g0098
a0001c0001t0007g0098
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.970-20734_970-2073
others(48): Show 
c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282208
chr1:2282208 TGAGAAGA
others(122): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCC
 T
T
 1 a0001c0001t0019g0249
a0001c0001t0019g0249
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-20688_970-2056
others(4): Show 
c.970-20688_970-20560del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282208
chr1:2282213 A
A
 G
G
 10 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0019g0233
others(7): Show 
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0019g0233
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 10 HG00741.hp1
HG02630.hp1
HG02886.hp1
others(7): Show 
HG00741.hp1
HG02630.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-20765A>G
c.970-20765A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282213
chr1:2282220 C
C
 T
T
 5 a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0025
others(2): Show 
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0025
a0001c0001t0004g0325
a0001c0001t0054g0159
 5 HG01928.hp2
HG01952.hp2
HG02027.hp2
others(2): Show 
HG01928.hp2
HG01952.hp2
HG02027.hp2
HG02280.hp2
NA19063.hp1
 intron_variant MODIFIER c.970-20758C>T
c.970-20758C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282220
chr1:2282221 G
G
 A
A
 2 a0001c0001t0009g0099
a0001c0001t0063g0259
a0001c0001t0009g0099
a0001c0001t0063g0259
 2 HG02109.hp2
HG02922.hp1
HG02109.hp2
HG02922.hp1
 intron_variant MODIFIER c.970-20757G>A
c.970-20757G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282221
chr1:2282221 GGTGGCGG
others(294): Show 
GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG
GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGA
AGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG
CA
 G
G
 3 a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
a0001c0001t0011g0003
a0001c0001t0016g0267
a0001c0012t0011g0266
 4 HG02723.hp2
HG02976.hp2
NA19043.hp2
others(1): Show 
HG02723.hp2
HG02976.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-20738_970-2043
others(4): Show 
c.970-20738_970-20438del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282221
chr1:2282223 T
T
 C
C
 10 a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0019g0233
others(7): Show 
a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0047g0293
a0001c0001t0072g0200
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 10 HG00738.hp1
HG00741.hp1
HG02630.hp1
others(7): Show 
HG00738.hp1
HG00741.hp1
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp1
NA18962.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-20755T>C
c.970-20755T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282223
chr1:2282226 C
C
 CGGAGATC
others(37): Show 
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.970-20734_970-2073
others(48): Show 
c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGT
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282226
chr1:2282226 C
C
 T
T
 5 a0001c0001t0003g0191
a0001c0001t0004g0006
a0001c0001t0008g0107
others(2): Show 
a0001c0001t0003g0191
a0001c0001t0004g0006
a0001c0001t0008g0107
a0001c0001t0014g0070
a0001c0001t0061g0138
 5 HG01257.hp2
HG03688.hp2
NA18945.hp1
others(2): Show 
HG01257.hp2
HG03688.hp2
NA18945.hp1
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-20752C>T
c.970-20752C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282226
chr1:2282229 A
A
 C
C
 3 a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0058g0297
a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0058g0297
 3 HG00738.hp1
HG02559.hp1
NA20129.hp2
HG00738.hp1
HG02559.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20749A>C
c.970-20749A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282229
chr1:2282238 G
G
 T
T
 2 a0001c0001t0002g0093
a0001c0001t0010g0092
a0001c0001t0002g0093
a0001c0001t0010g0092
 2 HG02572.hp1
HG03471.hp2
HG02572.hp1
HG03471.hp2
 intron_variant MODIFIER c.970-20740G>T
c.970-20740G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282238
chr1:2282243 A
A
 AGAGATGC
others(252): Show 
AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC
TTCAGAGAGC
 1 a0001c0001t0019g0223
a0001c0001t0019g0223
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.970-20734_970-2073
others(263): Show 
c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGAC
GCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAG
AGGACAGGCGGCGGCGGCGATCTTCAGAGAGCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282243
chr1:2282243 AG
AG
 A
A
 3 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0106
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0106
 3 HG02647.hp1
HG02896.hp1
HG02897.hp2
HG02647.hp1
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.970-20733delG
c.970-20733delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282243
chr1:2282243 AGGACGCC
others(13): Show 
AGGACGCCCGAGAAGACAGGC
 A
A
 2 a0001c0001t0002g0093
a0001c0001t0010g0092
a0001c0001t0002g0093
a0001c0001t0010g0092
 2 HG02572.hp1
HG03471.hp2
HG02572.hp1
HG03471.hp2
 intron_variant MODIFIER c.970-20732_970-2071
others(24): Show 
c.970-20732_970-20713delACGCCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282243
chr1:2282244 G
G
 A
A
 7 a0001c0001t0002g0105
a0001c0001t0003g0246
a0001c0001t0005g0228
others(4): Show 
a0001c0001t0002g0105
a0001c0001t0003g0246
a0001c0001t0005g0228
a0001c0001t0008g0210
a0001c0001t0011g0265
a0001c0001t0020g0167
a0001c0001t0027g0245
 7 HG01109.hp2
HG02630.hp2
NA18950.hp1
others(4): Show 
HG01109.hp2
HG02630.hp2
NA18950.hp1
NA19074.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-20734G>A
c.970-20734G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282244
chr1:2282244 G
G
 GA
GA
 50 a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0152
others(47): Show 
a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0152
a0001c0001t0001g0240
a0001c0001t0001g0304
a0001c0001t0002g0027
a0001c0001t0002g0129
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0143
a0001c0001t0003g0243
a0001c0001t0004g0009
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0089
a0001c0001t0005g0232
a0001c0001t0006g0284
a0001c0001t0007g0305
a0001c0001t0008g0239
a0001c0001t0009g0308
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0041g0306
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0073g0216
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
 51 HG00099.hp1
HG00544.hp2
HG01070.hp1
others(48): Show 
HG00099.hp1
HG00544.hp2
HG01070.hp1
HG01099.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01515.hp1
HG02027.hp1
HG02109.hp1
HG02258.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG03486.hp2
HG03540.hp2
HG03688.hp1
HG03927.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18954.hp2
NA18971.hp2
NA18982.hp1
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp1
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19080.hp2
NA19088.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20734_970-2073
others(5): Show 
c.970-20734_970-20733insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282244
chr1:2282244 G
G
 GAGATGCC
others(147): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGC
GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGA
 1 a0001c0001t0005g0253
a0001c0001t0005g0253
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.970-20734_970-2073
others(158): Show 
c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA
GAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282244
chr1:2282244 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 15 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0132
others(12): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0008g0111
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0068g0145
 15 HG00438.hp2
HG02071.hp2
HG02145.hp2
others(12): Show 
HG00438.hp2
HG02071.hp2
HG02145.hp2
HG02717.hp1
HG02922.hp2
HG03017.hp1
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
NA18747.hp2
NA18906.hp1
NA18956.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-20732_970-2069
others(46): Show 
c.970-20732_970-20691delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282244
chr1:2282244 GGACGCCC
others(78): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0001g0283
a0001c0001t0001g0283
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.970-20732_970-2064
others(89): Show 
c.970-20732_970-20648delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282244
chr1:2282244 GGACGCCC
others(164): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.970-20732_970-2056
others(4): Show 
c.970-20732_970-20562del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282244
chr1:2282247 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-20691_970-2069
others(48): Show 
c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.970-20691_970-2069
others(91): Show 
c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 CGCCCGAG
others(123): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0001t0003g0117
a0001c0001t0003g0117
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.970-20685_970-2068
others(134): Show 
c.970-20685_970-20684insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
CGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 2 a0001c0001t0003g0191
a0001c0001t0008g0107
a0001c0001t0003g0191
a0001c0001t0008g0107
 2 NA19084.hp1
NA19084.hp2
NA19084.hp1
NA19084.hp2
 intron_variant MODIFIER c.970-20728_970-2072
others(48): Show 
c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 CGCCTGAG
others(361): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACA
GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTG
GTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA
TCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGAGAT
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-20728_970-2072
others(372): Show 
c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG
AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT
GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG
AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG
AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 CGCCTGAG
others(123): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA
GAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-20728_970-2072
others(134): Show 
c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAG
AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
TGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282247
chr1:2282247 C
C
 T
T
 101 a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
others(98): Show 
a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0152
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0277
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0127
a0001c0001t0003g0143
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0007g0305
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0035g0261
a0001c0001t0041g0306
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0050g0309
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
 102 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(99): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01515.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02074.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03688.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18971.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20731C>T
c.970-20731C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282247
chr1:2282248 G
G
 A
A
 5 a0001c0001t0002g0105
a0001c0001t0005g0228
a0001c0001t0008g0210
others(2): Show 
a0001c0001t0002g0105
a0001c0001t0005g0228
a0001c0001t0008g0210
a0001c0001t0011g0265
a0001c0001t0020g0167
 5 HG01109.hp2
HG02630.hp2
NA18950.hp1
others(2): Show 
HG01109.hp2
HG02630.hp2
NA18950.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-20730G>A
c.970-20730G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282248
chr1:2282250 C
C
 G
G
 5 a0001c0001t0002g0105
a0001c0001t0005g0228
a0001c0001t0008g0210
others(2): Show 
a0001c0001t0002g0105
a0001c0001t0005g0228
a0001c0001t0008g0210
a0001c0001t0011g0265
a0001c0001t0020g0167
 5 HG01109.hp2
HG02630.hp2
NA18950.hp1
others(2): Show 
HG01109.hp2
HG02630.hp2
NA18950.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-20728C>G
c.970-20728C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282250
chr1:2282251 C
C
 G
G
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-20727C>G
c.970-20727C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282251
chr1:2282251 C
C
 T
T
 13 a0001c0001t0001g0299
a0001c0001t0002g0105
a0001c0001t0003g0019
others(10): Show 
a0001c0001t0001g0299
a0001c0001t0002g0105
a0001c0001t0003g0019
a0001c0001t0005g0228
a0001c0001t0007g0086
a0001c0001t0008g0210
a0001c0001t0011g0265
a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0003t0020g0015
a0001c0014t0001g0174
 13 HG00735.hp1
HG01109.hp2
HG01891.hp1
others(10): Show 
HG00735.hp1
HG01109.hp2
HG01891.hp1
HG02630.hp2
HG02897.hp1
HG03225.hp1
HG03516.hp1
NA18950.hp1
NA19030.hp1
NA19043.hp1
NA19082.hp2
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-20727C>T
c.970-20727C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282251
chr1:2282251 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0014g0144
a0001c0001t0014g0144
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.970-20684_970-2064
others(47): Show 
c.970-20684_970-20642delTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282251
chr1:2282251 CGAGAAGA
others(208): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGACGCCT
 C
C
 1 a0001c0001t0006g0300
a0001c0001t0006g0300
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.970-20709_970-2049
others(4): Show 
c.970-20709_970-20495del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282251
chr1:2282256 A
A
 AGACATGC
others(122): Show 
AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGCGATCTTCAGAGAGCGGACGCCCGAGAG
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.970-20718_970-2071
others(133): Show 
c.970-20718_970-20717insTGCGGCGGCGGCGATCTTCAGAGAGC
GGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCC
CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG
ACA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282256
chr1:2282256 A
A
 G
G
 6 a0001c0001t0019g0223
a0001c0003t0001g0170
a0001c0003t0001g0172
others(3): Show 
a0001c0001t0019g0223
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 6 HG02630.hp1
HG02886.hp1
HG03041.hp1
others(3): Show 
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20722A>G
c.970-20722A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282256
chr1:2282263 C
C
 T
T
 2 a0001c0001t0008g0210
a0001c0001t0012g0160
a0001c0001t0008g0210
a0001c0001t0012g0160
 2 HG01952.hp1
NA18950.hp1
HG01952.hp1
NA18950.hp1
 intron_variant MODIFIER c.970-20715C>T
c.970-20715C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282263
chr1:2282264 G
G
 A
A
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-20714G>A
c.970-20714G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282264
chr1:2282266 T
T
 C
C
 2 a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0002g0256
a0001c0001t0019g0223
 2 HG00738.hp1
NA20129.hp2
HG00738.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20712T>C
c.970-20712T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282266
chr1:2282269 C
C
 T
T
 5 a0001c0001t0002g0277
a0001c0001t0003g0031
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0277
a0001c0001t0003g0031
a0001c0001t0004g0009
a0001c0001t0004g0118
a0001c0001t0085g0263
 5 HG00280.hp2
NA18944.hp1
NA18959.hp2
others(2): Show 
HG00280.hp2
NA18944.hp1
NA18959.hp2
NA18983.hp2
NA19068.hp2
 intron_variant MODIFIER c.970-20709C>T
c.970-20709C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282269
chr1:2282281 G
G
 T
T
 1 a0001c0001t0085g0263
a0001c0001t0085g0263
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.970-20697G>T
c.970-20697G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282281
chr1:2282287 G
G
 A
A
 19 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0132
others(16): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0093
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0310
a0001c0001t0008g0111
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0037g0012
a0001c0001t0068g0145
 19 HG00323.hp1
HG00438.hp2
HG02071.hp2
others(16): Show 
HG00323.hp1
HG00438.hp2
HG02071.hp2
HG02145.hp2
HG02572.hp1
HG02717.hp1
HG02818.hp2
HG02922.hp2
HG03017.hp1
HG03471.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
NA18747.hp2
NA18906.hp1
NA18956.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-20691G>A
c.970-20691G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282287
chr1:2282287 G
G
 GA
GA
 48 a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0033
others(45): Show 
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0001g0299
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0116
a0001c0001t0003g0209
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0248
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0006g0324
a0001c0001t0007g0133
a0001c0001t0008g0042
a0001c0001t0009g0307
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0019g0233
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0045g0294
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0085g0263
a0001c0003t0020g0015
a0001c0014t0001g0174
a0002c0004t0001g0187
a0002c0004t0002g0186
 48 HG00280.hp1
HG00280.hp2
HG00423.hp2
others(45): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp1
HG01169.hp2
HG01261.hp1
HG01261.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02486.hp2
HG02698.hp1
HG02735.hp2
HG02809.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03516.hp1
HG04115.hp2
HG04184.hp2
NA18612.hp2
NA18940.hp1
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18971.hp1
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19082.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-20691_970-2069
others(5): Show 
c.970-20691_970-20690insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282287
chr1:2282287 G
G
 GAGATGCC
others(38): Show 
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0002c0004t0001g0188
a0002c0004t0001g0188
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.970-20691_970-2069
others(49): Show 
c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282287
chr1:2282287 G
G
 GGATGCCC
others(81): Show 
GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC
CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.970-20689_970-2068
others(92): Show 
c.970-20689_970-20688insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282287
chr1:2282287 GGACGCCT
others(35): Show 
GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 1 a0001c0001t0038g0212
a0001c0001t0038g0212
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.970-20689_970-2064
others(46): Show 
c.970-20689_970-20648delACGCCTGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282287
chr1:2282290 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-20685_970-2068
others(48): Show 
c.970-20685_970-20684insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282290
chr1:2282290 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.970-20685_970-2068
others(91): Show 
c.970-20685_970-20684insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG
AGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282290
chr1:2282290 C
C
 T
T
 98 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(95): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0323
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0045
a0001c0001t0003g0116
a0001c0001t0003g0209
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0008
a0001c0001t0004g0017
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0248
a0001c0001t0005g0206
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0111
a0001c0001t0008g0239
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0013g0060
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0068g0145
a0001c0001t0075g0023
a0001c0001t0077g0011
a0001c0001t0085g0263
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 98 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(95): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp1
HG01169.hp2
HG01261.hp1
HG01261.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02273.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18947.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18961.hp2
NA18964.hp2
NA18971.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18995.hp2
NA19000.hp2
NA19030.hp1
NA19043.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-20688C>T
c.970-20688C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282290
chr1:2282291 G
G
 A
A
 4 a0001c0001t0002g0093
a0001c0001t0009g0095
a0001c0001t0010g0092
others(1): Show 
a0001c0001t0002g0093
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0075g0023
 4 HG00438.hp1
HG02572.hp1
HG02818.hp2
others(1): Show 
HG00438.hp1
HG02572.hp1
HG02818.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-20687G>A
c.970-20687G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282291
chr1:2282293 C
C
 G
G
 3 a0001c0001t0002g0093
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0002g0093
a0001c0001t0009g0095
a0001c0001t0010g0092
 3 HG02572.hp1
HG02818.hp2
HG03471.hp2
HG02572.hp1
HG02818.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-20685C>G
c.970-20685C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282293
chr1:2282294 T
T
 C
C
 282 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(279): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0076
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 284 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(281): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-20684T>C
c.970-20684T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282294
chr1:2282294 T
T
 TGAGAAGA
others(37): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-20648_970-2064
others(48): Show 
c.970-20648_970-20647insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282294
chr1:2282294 T
T
 TGAGAAGA
others(36): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.970-20602_970-2056
others(47): Show 
c.970-20602_970-20560dupCGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282294
chr1:2282294 T
T
 TGAGAAGA
others(361): Show 
TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG
ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG
GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT
CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG
CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCC
 1 a0001c0001t0002g0084
a0001c0001t0002g0084
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.970-20642_970-2064
others(372): Show 
c.970-20642_970-20641insTGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG
AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC
GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA
TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC
GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282294
chr1:2282299 A
A
 G
G
 2 a0001c0001t0005g0253
a0001c0008t0021g0252
a0001c0001t0005g0253
a0001c0008t0021g0252
 2 HG01070.hp1
HG03239.hp2
HG01070.hp1
HG03239.hp2
 intron_variant MODIFIER c.970-20679A>G
c.970-20679A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282299
chr1:2282306 C
C
 CGGTGGCG
others(83): Show 
CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT
 1 a0001c0001t0012g0160
a0001c0001t0012g0160
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.970-20648_970-2064
others(94): Show 
c.970-20648_970-20647insAGGACGCCCGAGAAGACAGGCGGTGG
CGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG
ATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282306
chr1:2282306 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0011g0265
a0001c0001t0001g0119
a0001c0001t0011g0265
 2 HG02630.hp2
HG03710.hp2
HG02630.hp2
HG03710.hp2
 intron_variant MODIFIER c.970-20672C>T
c.970-20672C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282306
chr1:2282307 G
G
 A
A
 1 a0001c0001t0072g0200
a0001c0001t0072g0200
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.970-20671G>A
c.970-20671G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282307
chr1:2282309 T
T
 C
C
 2 a0001c0001t0004g0118
a0001c0001t0014g0051
a0001c0001t0004g0118
a0001c0001t0014g0051
 2 HG01884.hp2
NA18944.hp1
HG01884.hp2
NA18944.hp1
 intron_variant MODIFIER c.970-20669T>C
c.970-20669T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282309
chr1:2282312 C
C
 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0007g0108
a0001c0001t0007g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.970-20646_970-2064
others(47): Show 
c.970-20646_970-20645insTGCCCGAGAAGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282312
chr1:2282312 C
C
 T
T
 24 a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0010
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0001g0323
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0003g0116
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0006g0142
a0001c0001t0006g0324
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0077g0011
 24 HG00423.hp2
HG00735.hp1
HG00735.hp2
others(21): Show 
HG00423.hp2
HG00735.hp1
HG00735.hp2
HG01169.hp2
HG01261.hp1
HG02071.hp1
HG02735.hp2
HG03017.hp1
HG03041.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
NA18940.hp1
NA18956.hp1
NA18964.hp2
NA18979.hp2
NA18982.hp2
NA18995.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-20666C>T
c.970-20666C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282312
chr1:2282313 G
G
 A
A
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-20665G>A
c.970-20665G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282313
chr1:2282315 A
A
 AGATCTTC
others(80): Show 
AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT
TCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGC
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-20648_970-2064
others(91): Show 
c.970-20648_970-20647insAGATGCCCGAGAAGACAGGCGGCGGC
GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282315
chr1:2282319 C
C
 G
G
 1 a0001c0001t0056g0315
a0001c0001t0056g0315
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.970-20659C>G
c.970-20659C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282319
chr1:2282329 AG
AG
 A
A
 3 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0003g0039
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0003g0039
 3 HG02896.hp1
HG02897.hp2
NA18948.hp2
HG02896.hp1
HG02897.hp2
NA18948.hp2
 intron_variant MODIFIER c.970-20647delG
c.970-20647delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282329
chr1:2282330 G
G
 A
A
 4 a0001c0001t0001g0283
a0001c0001t0011g0264
a0001c0001t0036g0262
others(1): Show 
a0001c0001t0001g0283
a0001c0001t0011g0264
a0001c0001t0036g0262
a0001c0001t0038g0212
 4 HG01123.hp2
HG02155.hp2
HG03139.hp1
others(1): Show 
HG01123.hp2
HG02155.hp2
HG03139.hp1
NA18961.hp1
 intron_variant MODIFIER c.970-20648G>A
c.970-20648G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282330
chr1:2282330 G
G
 GA
GA
 35 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0078
a0001c0001t0001g0271
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0154
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0209
a0001c0001t0004g0025
a0001c0001t0004g0325
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0019g0223
a0001c0001t0024g0005
a0001c0001t0044g0292
a0001c0001t0069g0104
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
 35 HG00544.hp1
HG00621.hp1
HG00642.hp1
others(32): Show 
HG00544.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01361.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02280.hp2
HG02615.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG04115.hp2
NA18522.hp2
NA18612.hp1
NA18946.hp2
NA18977.hp2
NA19007.hp1
NA19063.hp1
NA19082.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-20648_970-2064
others(5): Show 
c.970-20648_970-20647insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282330
chr1:2282330 GGACGCCC
others(35): Show 
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
 G
G
 7 a0001c0001t0003g0251
a0001c0001t0005g0161
a0001c0001t0005g0198
others(4): Show 
a0001c0001t0003g0251
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0008g0193
a0001c0001t0009g0296
a0001c0001t0021g0250
 7 HG00733.hp1
HG01099.hp1
HG01257.hp1
others(4): Show 
HG00733.hp1
HG01099.hp1
HG01257.hp1
HG01258.hp2
HG01993.hp2
HG02486.hp1
NA18945.hp2
 intron_variant MODIFIER c.970-20646_970-2060
others(46): Show 
c.970-20646_970-20605delACGCCCGAGAAGACAGGCGGTGGCGG
AGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282330
chr1:2282333 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 2 a0001c0001t0003g0044
a0001c0001t0018g0028
a0001c0001t0003g0044
a0001c0001t0018g0028
 2 HG03688.hp1
NA18990.hp1
HG03688.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-20562_970-2056
others(91): Show 
c.970-20562_970-20561insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282333
chr1:2282333 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0007g0086
a0001c0001t0007g0086
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.970-20642_970-2064
others(48): Show 
c.970-20642_970-20641insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282333
chr1:2282333 C
C
 T
T
 53 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0078
others(50): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0078
a0001c0001t0001g0121
a0001c0001t0001g0148
a0001c0001t0001g0271
a0001c0001t0001g0283
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0002g0256
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0209
a0001c0001t0004g0025
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0207
a0001c0001t0005g0225
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0008g0111
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0019g0223
a0001c0001t0021g0316
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0038g0212
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0063g0259
a0001c0001t0069g0104
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0011t0039g0071
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0003c0013t0032g0178
 53 HG00438.hp2
HG00544.hp1
HG00621.hp1
others(50): Show 
HG00438.hp2
HG00544.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01361.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02071.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03834.hp2
HG03927.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18946.hp2
NA18961.hp1
NA18977.hp2
NA19007.hp1
NA19063.hp1
NA19070.hp2
NA19082.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-20645C>T
c.970-20645C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282333
chr1:2282333 C
C
 TGCCCGAG
others(36): Show 
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.970-20646_970-2064
others(47): Show 
c.970-20646_970-20645insTGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282333
chr1:2282334 G
G
 A
A
 2 a0001c0001t0011g0264
a0001c0001t0036g0262
a0001c0001t0011g0264
a0001c0001t0036g0262
 2 HG01123.hp2
HG03139.hp1
HG01123.hp2
HG03139.hp1
 intron_variant MODIFIER c.970-20644G>A
c.970-20644G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282334
chr1:2282336 C
C
 G
G
 2 a0001c0001t0011g0264
a0001c0001t0036g0262
a0001c0001t0011g0264
a0001c0001t0036g0262
 2 HG01123.hp2
HG03139.hp1
HG01123.hp2
HG03139.hp1
 intron_variant MODIFIER c.970-20642C>G
c.970-20642C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282336
chr1:2282337 C
C
 CGAGAAGA
others(36): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-20599_970-2059
others(47): Show 
c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282337
chr1:2282337 C
C
 T
T
 11 a0001c0001t0005g0066
a0001c0001t0007g0108
a0001c0001t0011g0264
others(8): Show 
a0001c0001t0005g0066
a0001c0001t0007g0108
a0001c0001t0011g0264
a0001c0001t0013g0069
a0001c0001t0036g0262
a0001c0001t0049g0087
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
 11 HG01070.hp2
HG01123.hp2
HG01346.hp2
others(8): Show 
HG01070.hp2
HG01123.hp2
HG01346.hp2
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03654.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-20641C>T
c.970-20641C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282337
chr1:2282342 A
A
 AGACAGGC
others(165): Show 
AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACATG
CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC
GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATC
TTCAGAGAGAGGATGCCCGAGAG
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-20627_970-2062
others(176): Show 
c.970-20627_970-20626insCGGCGGCGATCTTCAGAGAGAGGACG
CCCGAGAGGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA
GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG
CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282342
chr1:2282352 T
T
 C
C
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-20626T>C
c.970-20626T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282352
chr1:2282355 C
C
 CGGAGATC
others(37): Show 
CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT
 1 a0001c0001t0008g0041
a0001c0001t0008g0041
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.970-20605_970-2060
others(48): Show 
c.970-20605_970-20604insAGATGCCCGAGAAGACAGGCGGTGGT
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282355
chr1:2282355 C
C
 T
T
 3 a0001c0001t0010g0096
a0001c0001t0019g0233
a0001c0001t0023g0139
a0001c0001t0010g0096
a0001c0001t0019g0233
a0001c0001t0023g0139
 3 HG00741.hp1
HG02055.hp1
HG03927.hp1
HG00741.hp1
HG02055.hp1
HG03927.hp1
 intron_variant MODIFIER c.970-20623C>T
c.970-20623C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282355
chr1:2282355 CGGAGATC
others(122): Show 
CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT
CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA
GAGAGGACGCCTGAGAAGACAGGCGGTGGT
 C
C
 1 a0001c0001t0002g0129
a0001c0001t0002g0129
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.970-20598_970-2047
others(4): Show 
c.970-20598_970-20470del
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282355
chr1:2282356 G
G
 A
A
 3 a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0018g0147
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0018g0147
 3 NA18967.hp2
NA19002.hp1
NA19063.hp2
NA18967.hp2
NA19002.hp1
NA19063.hp2
 intron_variant MODIFIER c.970-20622G>A
c.970-20622G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282356
chr1:2282358 A
A
 C
C
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-20620A>C
c.970-20620A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282358
chr1:2282373 G
G
 A
A
 10 a0001c0001t0002g0318
a0001c0001t0003g0251
a0001c0001t0005g0161
others(7): Show 
a0001c0001t0002g0318
a0001c0001t0003g0251
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0007g0302
a0001c0001t0008g0193
a0001c0001t0009g0296
a0001c0001t0021g0250
a0001c0001t0051g0276
 10 HG00733.hp1
HG01099.hp1
HG01257.hp1
others(7): Show 
HG00733.hp1
HG01099.hp1
HG01257.hp1
HG01258.hp2
HG01993.hp2
HG02486.hp1
HG02615.hp1
HG03834.hp1
HG03927.hp2
NA18945.hp2
 intron_variant MODIFIER c.970-20605G>A
c.970-20605G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282373
chr1:2282373 G
G
 GA
GA
 87 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
others(84): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0005g0153
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0002t0002g0189
 88 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(85): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02165.hp2
HG02258.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19063.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-20605_970-2060
others(5): Show 
c.970-20605_970-20604insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282373
chr1:2282373 G
G
 GAGATGCC
others(38): Show 
GAGATGCCCGAGAAGACAGGTGGCGGCGGCGATCTTCAGAGAGAGA
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.970-20605_970-2060
others(49): Show 
c.970-20605_970-20604insAGATGCCCGAGAAGACAGGTGGCGGC
GGCGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282373
chr1:2282373 G
G
 GAGGACGC
others(39): Show 
GAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGA
 1 a0001c0001t0005g0157
a0001c0001t0005g0157
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.970-20605_970-2060
others(50): Show 
c.970-20605_970-20604insAGGACGCCCGAGAAGACAGGTGGTGG
CGGAGATCTTCAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282373
chr1:2282376 C
C
 CGCCCGAG
others(37): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 6 a0001c0001t0001g0125
a0001c0001t0001g0148
a0001c0001t0002g0084
others(3): Show 
a0001c0001t0001g0125
a0001c0001t0001g0148
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0007g0162
a0001c0001t0072g0200
 6 HG02015.hp2
HG02074.hp1
HG02300.hp2
others(3): Show 
HG02015.hp2
HG02074.hp1
HG02300.hp2
NA18962.hp2
NA19000.hp2
NA19070.hp2
 intron_variant MODIFIER c.970-20562_970-2056
others(48): Show 
c.970-20562_970-20561insAGATGCCCGAGAAGACAGGCGGTGGC
GGAGATCTTCAGAGAGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282376
chr1:2282376 C
C
 CGCCCGAG
others(80): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGACGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.970-20560_970-2055
others(91): Show 
c.970-20560_970-20559insCGCCCGAGAAGACAGACGGTGGCGGA
GATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT
CAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282376
chr1:2282376 C
C
 CGCCTGAG
others(37): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-20599_970-2059
others(48): Show 
c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282376
chr1:2282376 C
C
 CGCCTGAG
others(123): Show 
CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG
AGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC
AGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 2 a0001c0001t0001g0035
a0001c0001t0071g0024
a0001c0001t0001g0035
a0001c0001t0071g0024
 2 NA18998.hp1
NA19057.hp1
NA18998.hp1
NA19057.hp1
 intron_variant MODIFIER c.970-20599_970-2059
others(134): Show 
c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGA
GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA
TGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282376
chr1:2282376 C
C
 T
T
 124 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
others(121): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0002t0002g0189
 125 HG00280.hp2
HG00423.hp1
HG00438.hp2
others(122): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19063.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-20602C>T
c.970-20602C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282376
chr1:2282377 G
G
 A
A
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-20601G>A
c.970-20601G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282377
chr1:2282379 C
C
 G
G
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-20599C>G
c.970-20599C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282379
chr1:2282380 C
C
 T
T
 5 a0001c0001t0010g0096
a0001c0001t0023g0139
a0001c0001t0051g0276
others(2): Show 
a0001c0001t0010g0096
a0001c0001t0023g0139
a0001c0001t0051g0276
a0001c0003t0020g0014
a0003c0013t0032g0178
 5 HG02055.hp1
HG03453.hp2
HG03654.hp2
others(2): Show 
HG02055.hp1
HG03453.hp2
HG03654.hp2
HG03927.hp1
HG03927.hp2
 intron_variant MODIFIER c.970-20598C>T
c.970-20598C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282380
chr1:2282392 C
C
 CGGTGGCG
others(16): Show 
CGGTGGCGGAGATCTTCATAGAGA
 1 a0001c0001t0010g0096
a0001c0001t0010g0096
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.970-20569_970-2056
others(27): Show 
c.970-20569_970-20568insTAGAGAGGTGGCGGAGATCTTCA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282392
chr1:2282392 C
C
 T
T
 1 a0001c0001t0011g0264
a0001c0001t0011g0264
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.970-20586C>T
c.970-20586C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282392
chr1:2282395 T
T
 C
C
 2 a0001c0001t0008g0140
a0003c0013t0032g0178
a0001c0001t0008g0140
a0003c0013t0032g0178
 2 HG03654.hp2
NA18948.hp1
HG03654.hp2
NA18948.hp1
 intron_variant MODIFIER c.970-20583T>C
c.970-20583T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282395
chr1:2282398 C
C
 T
T
 2 a0001c0001t0011g0265
a0001c0001t0019g0249
a0001c0001t0011g0265
a0001c0001t0019g0249
 2 HG02630.hp2
NA20805.hp2
HG02630.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-20580C>T
c.970-20580C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282398
chr1:2282401 A
A
 AGATCTTC
others(36): Show 
AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGT
 1 a0001c0001t0005g0232
a0001c0001t0005g0232
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.970-20560_970-2055
others(47): Show 
c.970-20560_970-20559insCGCCTGAGAAGACAGGCGGCGGCGGT
GATCTTCAGAGAGAGGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282401
chr1:2282401 A
A
 C
C
 1 a0003c0013t0032g0178
a0003c0013t0032g0178
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.970-20577A>C
c.970-20577A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282401
chr1:2282416 G
G
 A
A
 3 a0001c0001t0004g0220
a0001c0001t0010g0096
a0001c0001t0051g0276
a0001c0001t0004g0220
a0001c0001t0010g0096
a0001c0001t0051g0276
 3 HG01517.hp1
HG02055.hp1
HG03927.hp2
HG01517.hp1
HG02055.hp1
HG03927.hp2
 intron_variant MODIFIER c.970-20562G>A
c.970-20562G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282416
chr1:2282416 G
G
 GA
GA
 6 a0001c0001t0002g0301
a0001c0001t0006g0226
a0001c0001t0006g0310
others(3): Show 
a0001c0001t0002g0301
a0001c0001t0006g0226
a0001c0001t0006g0310
a0001c0001t0009g0307
a0001c0001t0015g0136
a0001c0001t0058g0297
 6 HG00323.hp1
HG02559.hp1
HG02738.hp2
others(3): Show 
HG00323.hp1
HG02559.hp1
HG02738.hp2
HG03098.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.970-20562_970-2056
others(5): Show 
c.970-20562_970-20561insA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282416
chr1:2282416 G
G
 GGACGCCT
others(103): Show 
GGACGCCTGAGAAGACAGGCAGTGGCGGAGATCTTCAGAGAGAGGTGGCG
GAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGA
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-20560_970-2055
others(114): Show 
c.970-20560_970-20559insCGCCTGAGAAGACAGGCAGTGGCGGA
GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282416
chr1:2282419 T
T
 C
C
 104 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0035
others(101): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0195
a0001c0001t0001g0278
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0318
a0001c0001t0002g0326
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0009
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0225
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0057g0288
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0006t0040g0053
a0001c0007t0078g0269
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0003c0013t0032g0178
 106 HG00438.hp2
HG00544.hp1
HG00609.hp2
others(103): Show 
HG00438.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01978.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02300.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18977.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19082.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.970-20559T>C
c.970-20559T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282419
chr1:2282419 T
T
 TGCCCGAG
others(727): Show 
TGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA
GAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA
GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG
GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA
TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAG
AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG
ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG
AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG
CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA
AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC
 1 a0001c0001t0001g0323
a0001c0001t0001g0323
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.970-20538_970-2053
others(738): Show 
c.970-20538_970-20537insTGGAGATCTTCAGAGAGAGGACGCCC
GAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA
CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG
TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA
GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTC
AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCC
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA
GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC
GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTG
GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT
TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA
GAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA
TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA
GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA
GGCGGTGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282419
chr1:2282420 G
G
 A
A
 2 a0001c0001t0010g0096
a0001c0001t0051g0276
a0001c0001t0010g0096
a0001c0001t0051g0276
 2 HG02055.hp1
HG03927.hp2
HG02055.hp1
HG03927.hp2
 intron_variant MODIFIER c.970-20558G>A
c.970-20558G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282420
chr1:2282422 C
C
 G
G
 2 a0001c0001t0010g0096
a0001c0001t0051g0276
a0001c0001t0010g0096
a0001c0001t0051g0276
 2 HG02055.hp1
HG03927.hp2
HG02055.hp1
HG03927.hp2
 intron_variant MODIFIER c.970-20556C>G
c.970-20556C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282422
chr1:2282423 C
C
 CGAGAAGA
others(122): Show 
CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAG
ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG
GTGGCGGAGATCTTCAGAGAGAGGACGCCT
 1 a0001c0001t0003g0237
a0001c0001t0003g0237
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-20517_970-2051
others(133): Show 
c.970-20517_970-20516insTGCCCGAGAAGACAGGCGGTGGTGGA
GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC
AGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA
GGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282423
chr1:2282423 C
C
 T
T
 11 a0001c0001t0001g0035
a0001c0001t0002g0105
a0001c0001t0003g0039
others(8): Show 
a0001c0001t0001g0035
a0001c0001t0002g0105
a0001c0001t0003g0039
a0001c0001t0004g0009
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0005g0089
a0001c0001t0010g0096
a0001c0001t0051g0276
a0001c0001t0071g0024
 11 HG01109.hp2
HG01361.hp1
HG02055.hp1
others(8): Show 
HG01109.hp2
HG01361.hp1
HG02055.hp1
HG03927.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19079.hp1
 intron_variant MODIFIER c.970-20555C>T
c.970-20555C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282423
chr1:2282438 T
T
 C
C
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-20540T>C
c.970-20540T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282438
chr1:2282441 C
C
 T
T
 7 a0001c0001t0001g0035
a0001c0001t0003g0039
a0001c0001t0004g0034
others(4): Show 
a0001c0001t0001g0035
a0001c0001t0003g0039
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0038g0212
a0001c0001t0071g0024
 7 HG02155.hp2
NA18942.hp1
NA18948.hp2
others(4): Show 
HG02155.hp2
NA18942.hp1
NA18948.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19079.hp1
 intron_variant MODIFIER c.970-20537C>T
c.970-20537C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282441
chr1:2282441 CGGAGATC
others(36): Show 
CGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGT
 C
C
 5 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(2): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0031g0321
a0001c0001t0076g0113
 5 HG00544.hp1
HG00673.hp2
HG01074.hp2
others(2): Show 
HG00544.hp1
HG00673.hp2
HG01074.hp2
NA18944.hp1
NA18980.hp2
 intron_variant MODIFIER c.970-20499_970-2045
others(47): Show 
c.970-20499_970-20457delGGTGGTGGAGATCTTCAGAGAGAGGA
CGCCTGAGAAGACAGGC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282441
chr1:2282444 A
A
 C
C
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.970-20534A>C
c.970-20534A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282444
chr1:2282459 G
G
 A
A
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-20519G>A
c.970-20519G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282459
chr1:2282462 C
C
 CGCCCGAG
others(36): Show 
CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-20513_970-2051
others(47): Show 
c.970-20513_970-20512insCGAGAAGACAGGCGGTGGCGGAGATC
TTCAGAGAGAGGATGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282462
chr1:2282462 C
C
 T
T
 105 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0125
others(102): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0008t0021g0252
a0001c0009t0004g0064
a0003c0013t0032g0178
 105 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(102): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp2
HG02074.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-20516C>T
c.970-20516C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282462
chr1:2282463 G
G
 A
A
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-20515G>A
c.970-20515G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282463
chr1:2282465 C
C
 G
G
 1 a0001c0001t0051g0276
a0001c0001t0051g0276
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.970-20513C>G
c.970-20513C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282465
chr1:2282466 T
T
 C
C
 149 a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
others(146): Show 
a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0304
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0274
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0003c0013t0032g0178
 150 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(147): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18977.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19057.hp1
NA19063.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-20512T>C
c.970-20512T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282466
chr1:2282466 T
T
 TGAGAAGA
others(36): Show 
TGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCC
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-20498_970-2049
others(47): Show 
c.970-20498_970-20497insCGGCGGAGATCTTCAGAGAGAGGATG
CCCGAGAAGACAGGCGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282466
chr1:2282466 T
T
 TGAGAAGA
others(36): Show 
TGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC
 3 a0001c0001t0002g0038
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0002g0038
a0001c0001t0008g0041
a0001c0001t0008g0042
 3 NA18612.hp2
NA18971.hp1
NA18979.hp1
NA18612.hp2
NA18971.hp1
NA18979.hp1
 intron_variant MODIFIER c.970-20470_970-2046
others(47): Show 
c.970-20470_970-20469insCGAGAAGACAGGCGGTGGTGGAGATC
TTCAGAGAGAGGACGCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282466
chr1:2282484 T
T
 C
C
 32 a0001c0001t0001g0119
a0001c0001t0002g0084
a0001c0001t0002g0247
others(29): Show 
a0001c0001t0001g0119
a0001c0001t0002g0084
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0004g0009
a0001c0001t0004g0220
a0001c0001t0005g0268
a0001c0001t0006g0226
a0001c0001t0007g0302
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0013g0069
a0001c0001t0015g0136
a0001c0001t0018g0147
a0001c0001t0063g0259
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0006t0040g0053
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 33 HG00621.hp1
HG01070.hp2
HG01256.hp1
others(30): Show 
HG00621.hp1
HG01070.hp2
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02109.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02738.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18950.hp2
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA19002.hp1
NA19063.hp2
NA19068.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-20494T>C
c.970-20494T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282484
chr1:2282505 C
C
 T
T
 3 a0001c0001t0001g0119
a0001c0001t0015g0136
a0002c0015t0002g0185
a0001c0001t0001g0119
a0001c0001t0015g0136
a0002c0015t0002g0185
 3 HG01515.hp1
HG03710.hp2
HG04204.hp1
HG01515.hp1
HG03710.hp2
HG04204.hp1
 intron_variant MODIFIER c.970-20473C>T
c.970-20473C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282505
chr1:2282509 T
T
 C
C
 5 a0001c0001t0001g0119
a0001c0001t0010g0047
a0001c0001t0010g0048
others(2): Show 
a0001c0001t0001g0119
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0015g0136
a0002c0015t0002g0185
 5 HG00621.hp1
HG01515.hp1
HG03710.hp2
others(2): Show 
HG00621.hp1
HG01515.hp1
HG03710.hp2
HG04204.hp1
NA19082.hp1
 intron_variant MODIFIER c.970-20469T>C
c.970-20469T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282509
chr1:2282521 C
C
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.970-20457C>T
c.970-20457C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282521
chr1:2282522 A
A
 G
G
 152 a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
others(149): Show 
a0001c0001t0001g0016
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0084
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0088g0120
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 153 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(150): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19063.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-20456A>G
c.970-20456A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282522
chr1:2282567 C
C
 CG
CG
 4 a0001c0001t0012g0067
a0001c0001t0019g0233
a0001c0001t0051g0276
others(1): Show 
a0001c0001t0012g0067
a0001c0001t0019g0233
a0001c0001t0051g0276
a0001c0001t0075g0023
 4 HG00438.hp1
HG00738.hp2
HG00741.hp1
others(1): Show 
HG00438.hp1
HG00738.hp2
HG00741.hp1
HG03927.hp2
 intron_variant MODIFIER c.970-20408dupG
c.970-20408dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2282567
chr1:2282612 C
C
 T
T
 1 a0001c0001t0005g0207
a0001c0001t0005g0207
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.970-20366C>T
c.970-20366C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282612
chr1:2282755 G
G
 A
A
 7 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(4): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
 7 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(4): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02615.hp2
HG02809.hp2
HG02922.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-20223G>A
c.970-20223G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282755
chr1:2282763 G
G
 A
A
 8 a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0002g0124
others(5): Show 
a0001c0001t0001g0110
a0001c0001t0001g0141
a0001c0001t0002g0124
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0004g0114
a0001c0001t0008g0140
a0001c0005t0003g0137
 8 HG01975.hp2
HG01978.hp2
HG02165.hp2
others(5): Show 
HG01975.hp2
HG01978.hp2
HG02165.hp2
NA18948.hp1
NA18954.hp1
NA19067.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-20215G>A
c.970-20215G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282763
chr1:2282942 G
G
 A
A
 3 a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0002g0256
a0001c0001t0019g0223
a0001c0001t0019g0233
 3 HG00738.hp1
HG00741.hp1
NA20129.hp2
HG00738.hp1
HG00741.hp1
NA20129.hp2
 intron_variant MODIFIER c.970-20036G>A
c.970-20036G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282942
chr1:2282951 C
C
 T
T
 1 a0001c0001t0012g0155
a0001c0001t0012g0155
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.970-20027C>T
c.970-20027C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282951
chr1:2282992 C
C
 T
T
 117 a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0125
others(114): Show 
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
 117 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(114): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp2
HG02071.hp2
HG02074.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-19986C>T
c.970-19986C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2282992
chr1:2283013 C
C
 T
T
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-19965C>T
c.970-19965C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283013
chr1:2283014 A
A
 G
G
 54 a0001c0001t0001g0004
a0001c0001t0001g0078
a0001c0001t0001g0195
others(51): Show 
a0001c0001t0001g0004
a0001c0001t0001g0078
a0001c0001t0001g0195
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0002g0072
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0154
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0026g0295
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0057g0288
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0086g0286
a0001c0007t0078g0269
a0001c0011t0039g0071
 54 HG00544.hp1
HG00609.hp2
HG00673.hp2
others(51): Show 
HG00544.hp1
HG00609.hp2
HG00673.hp2
HG01074.hp2
HG01243.hp2
HG01978.hp1
HG02004.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03927.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18977.hp1
NA18980.hp2
NA18984.hp1
NA18995.hp1
NA19007.hp2
NA19012.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-19964A>G
c.970-19964A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283014
chr1:2283044 C
C
 T
T
 1 a0001c0001t0070g0074
a0001c0001t0070g0074
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-19934C>T
c.970-19934C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283044
chr1:2283108 C
C
 T
T
 2 a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0063g0259
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-19870C>T
c.970-19870C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283108
chr1:2283118 C
C
 T
T
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.970-19860C>T
c.970-19860C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283118
chr1:2283136 C
C
 T
T
 7 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
others(4): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0063g0259
a0001c0001t0076g0113
a0001c0001t0079g0128
 7 HG00544.hp1
HG00673.hp2
HG02109.hp2
others(4): Show 
HG00544.hp1
HG00673.hp2
HG02109.hp2
NA18944.hp1
NA18950.hp2
NA18980.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-19842C>T
c.970-19842C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283136
chr1:2283137 G
G
 A
A
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-19841G>A
c.970-19841G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283137
chr1:2283148 G
G
 C
C
 23 a0001c0001t0002g0084
a0001c0001t0002g0129
a0001c0001t0002g0247
others(20): Show 
a0001c0001t0002g0084
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0003g0046
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0018g0147
a0001c0001t0081g0083
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 24 HG00621.hp1
HG00642.hp1
HG01243.hp1
others(21): Show 
HG00621.hp1
HG00642.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp2
HG03540.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-19830G>C
c.970-19830G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283148
chr1:2283256 C
C
 T
T
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-19722C>T
c.970-19722C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283256
chr1:2283304 C
C
 T
T
 151 a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
others(148): Show 
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0084
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 153 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(150): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-19674C>T
c.970-19674C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283304
chr1:2283349 AGGG
AGGG
 A
A
 68 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0195
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0195
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0002g0072
a0001c0001t0002g0106
a0001c0001t0002g0154
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0057g0288
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0007t0078g0269
a0001c0011t0039g0071
a0001c0014t0001g0174
 69 HG00544.hp1
HG00609.hp2
HG00673.hp2
others(66): Show 
HG00544.hp1
HG00609.hp2
HG00673.hp2
HG01074.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01978.hp1
HG02004.hp1
HG02109.hp2
HG02280.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03927.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18977.hp1
NA18980.hp2
NA18984.hp1
NA18995.hp1
NA19007.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-19623_970-1962
others(7): Show 
c.970-19623_970-19621delGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2283349
chr1:2283351 G
G
 A
A
 1 a0001c0001t0012g0258
a0001c0001t0012g0258
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.970-19627G>A
c.970-19627G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283351
chr1:2283351 G
G
 C
C
 2 a0001c0001t0003g0031
a0001c0001t0003g0045
a0001c0001t0003g0031
a0001c0001t0003g0045
 2 NA18959.hp2
NA19062.hp1
NA18959.hp2
NA19062.hp1
 intron_variant MODIFIER c.970-19627G>C
c.970-19627G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283351
chr1:2283374 A
A
 G
G
 267 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(264): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0038
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0144
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 270 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(267): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-19604A>G
c.970-19604A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283374
chr1:2283483 G
G
 A
A
 22 a0001c0001t0001g0299
a0001c0001t0002g0106
a0001c0001t0002g0322
others(19): Show 
a0001c0001t0001g0299
a0001c0001t0002g0106
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0007g0098
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0014t0001g0174
 22 HG01891.hp1
HG02630.hp1
HG02647.hp1
others(19): Show 
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-19495G>A
c.970-19495G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283483
chr1:2283489 A
A
 G
G
 1 a0001c0001t0066g0282
a0001c0001t0066g0282
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.970-19489A>G
c.970-19489A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283489
chr1:2283646 GC
GC
 G
G
 12 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
others(9): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0069g0104
 12 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(9): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-19330delC
c.970-19330delC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2283646
chr1:2283682 C
C
 T
T
 61 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0195
others(58): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0195
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0002g0072
a0001c0001t0002g0106
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0090
a0001c0001t0004g0275
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0281
a0001c0001t0008g0279
a0001c0001t0013g0079
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0057g0288
a0001c0001t0066g0282
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0007t0078g0269
a0001c0011t0039g0071
a0001c0014t0001g0174
 62 HG00609.hp2
HG01074.hp2
HG01515.hp2
others(59): Show 
HG00609.hp2
HG01074.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01978.hp1
HG02004.hp1
HG02280.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03927.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18946.hp1
NA18947.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18977.hp1
NA18984.hp1
NA18995.hp1
NA19007.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-19296C>T
c.970-19296C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283682
chr1:2283727 C
C
 T
T
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.970-19251C>T
c.970-19251C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283727
chr1:2283728 G
G
 A
A
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.970-19250G>A
c.970-19250G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283728
chr1:2283772 T
T
 C
C
 233 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(230): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 236 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(233): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-19206T>C
c.970-19206T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283772
chr1:2283819 C
C
 T
T
 1 a0001c0001t0074g0192
a0001c0001t0074g0192
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.970-19159C>T
c.970-19159C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283819
chr1:2283870 C
C
 T
T
 32 a0001c0001t0001g0010
a0001c0001t0001g0035
a0001c0001t0001g0121
others(29): Show 
a0001c0001t0001g0010
a0001c0001t0001g0035
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0152
a0001c0001t0002g0038
a0001c0001t0002g0123
a0001c0001t0002g0277
a0001c0001t0003g0039
a0001c0001t0003g0116
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0151
a0001c0001t0006g0142
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0025g0122
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0077g0011
 32 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(29): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG02145.hp2
HG03017.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp1
NA18612.hp2
NA18747.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp2
NA18956.hp1
NA18964.hp2
NA18971.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18995.hp2
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.970-19108C>T
c.970-19108C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283870
chr1:2283903 C
C
 T
T
 5 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(2): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
 6 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(3): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-19075C>T
c.970-19075C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283903
chr1:2283981 C
C
 T
T
 3 a0001c0001t0004g0260
a0001c0001t0013g0079
a0001c0001t0063g0259
a0001c0001t0004g0260
a0001c0001t0013g0079
a0001c0001t0063g0259
 3 HG02004.hp1
HG02109.hp2
NA21309.hp1
HG02004.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-18997C>T
c.970-18997C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2283981
chr1:2284044 C
C
 T
T
 3 a0001c0001t0002g0072
a0001c0001t0026g0295
a0001c0001t0033g0073
a0001c0001t0002g0072
a0001c0001t0026g0295
a0001c0001t0033g0073
 3 HG02622.hp1
HG03098.hp2
HG03579.hp2
HG02622.hp1
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.970-18934C>T
c.970-18934C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284044
chr1:2284068 T
T
 A
A
 4 a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0076g0113
others(1): Show 
a0001c0001t0002g0154
a0001c0001t0004g0115
a0001c0001t0076g0113
a0001c0001t0079g0128
 4 HG00544.hp1
HG00673.hp2
NA18950.hp2
others(1): Show 
HG00544.hp1
HG00673.hp2
NA18950.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-18910T>A
c.970-18910T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284068
chr1:2284070 C
C
 T
T
 5 a0001c0001t0004g0230
a0001c0001t0009g0095
a0001c0001t0010g0092
others(2): Show 
a0001c0001t0004g0230
a0001c0001t0009g0095
a0001c0001t0010g0092
a0001c0001t0014g0229
a0002c0004t0002g0186
 5 HG00099.hp1
HG02109.hp1
HG02486.hp2
others(2): Show 
HG00099.hp1
HG02109.hp1
HG02486.hp2
HG02572.hp1
HG02818.hp2
 intron_variant MODIFIER c.970-18908C>T
c.970-18908C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284070
chr1:2284152 T
T
 C
C
 7 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(4): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0036g0262
a0001c0012t0011g0266
a0002c0002t0011g0179
 8 HG01123.hp2
HG02630.hp2
HG02723.hp2
others(5): Show 
HG01123.hp2
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-18826T>C
c.970-18826T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284152
chr1:2284173 C
C
 T
T
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-18805C>T
c.970-18805C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284173
chr1:2284212 C
C
 G
G
 37 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(34): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0049
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0230
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0046g0057
a0001c0001t0075g0023
a0001c0001t0080g0043
a0001c0001t0083g0231
 37 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(34): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02698.hp1
HG03688.hp1
HG06807.hp2
NA18747.hp2
NA18946.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18977.hp2
NA18984.hp2
NA18990.hp1
NA19007.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19082.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-18766C>G
c.970-18766C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284212
chr1:2284224 C
C
 T
T
 4 a0001c0001t0002g0154
a0001c0001t0004g0118
a0001c0001t0076g0113
others(1): Show 
a0001c0001t0002g0154
a0001c0001t0004g0118
a0001c0001t0076g0113
a0001c0001t0079g0128
 4 HG00544.hp1
HG00673.hp2
NA18944.hp1
others(1): Show 
HG00544.hp1
HG00673.hp2
NA18944.hp1
NA18950.hp2
 intron_variant MODIFIER c.970-18754C>T
c.970-18754C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284224
chr1:2284412 T
T
 C
C
 4 a0001c0001t0004g0118
a0001c0001t0010g0047
a0001c0001t0010g0048
others(1): Show 
a0001c0001t0004g0118
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0042g0319
 4 HG00621.hp1
NA18944.hp1
NA19002.hp2
others(1): Show 
HG00621.hp1
NA18944.hp1
NA19002.hp2
NA19082.hp1
 intron_variant MODIFIER c.970-18566T>C
c.970-18566T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284412
chr1:2284413 G
G
 C
C
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.970-18565G>C
c.970-18565G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284413
chr1:2284470 A
A
 C
C
 112 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
others(109): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0195
a0001c0001t0001g0235
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0230
a0001c0001t0004g0275
a0001c0001t0005g0089
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0080
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0008g0107
a0001c0001t0008g0210
a0001c0001t0008g0279
a0001c0001t0009g0307
a0001c0001t0012g0194
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0236
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0025g0122
a0001c0001t0026g0295
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0057g0288
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0075g0023
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0086g0286
a0001c0007t0078g0269
a0001c0011t0039g0071
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 112 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(109): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18995.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19079.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-18508A>C
c.970-18508A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284470
chr1:2284474 G
G
 C
C
 32 a0001c0001t0001g0010
a0001c0001t0001g0035
a0001c0001t0001g0146
others(29): Show 
a0001c0001t0001g0010
a0001c0001t0001g0035
a0001c0001t0001g0146
a0001c0001t0001g0271
a0001c0001t0003g0116
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0260
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
 32 HG00735.hp2
HG01261.hp1
HG01891.hp1
others(29): Show 
HG00735.hp2
HG01261.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp2
HG03942.hp1
NA18945.hp1
NA18956.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19068.hp2
NA19079.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-18504G>C
c.970-18504G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284474
chr1:2284539 G
G
 C
C
 37 a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
others(34): Show 
a0001c0001t0001g0010
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0278
a0001c0001t0001g0299
a0001c0001t0002g0123
a0001c0001t0002g0277
a0001c0001t0002g0326
a0001c0001t0003g0116
a0001c0001t0003g0274
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0006g0142
a0001c0001t0007g0098
a0001c0001t0007g0133
a0001c0001t0007g0281
a0001c0001t0008g0041
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0144
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0023g0091
a0001c0001t0037g0012
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0061g0138
a0001c0001t0068g0145
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0087g0168
a0001c0014t0001g0174
 37 HG00423.hp2
HG00735.hp2
HG01261.hp1
others(34): Show 
HG00423.hp2
HG00735.hp2
HG01261.hp1
HG02145.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03225.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18947.hp2
NA18956.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19057.hp1
NA19062.hp2
NA19064.hp1
NA19068.hp2
NA19079.hp2
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.970-18439G>C
c.970-18439G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284539
chr1:2284584 G
G
 A
A
 8 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(5): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0046g0057
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
 9 HG02572.hp2
HG02630.hp2
HG02723.hp2
others(6): Show 
HG02572.hp2
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG06807.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-18394G>A
c.970-18394G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284584
chr1:2284602 C
C
 G
G
 2 a0001c0001t0046g0057
a0001c0001t0058g0297
a0001c0001t0046g0057
a0001c0001t0058g0297
 2 HG02559.hp1
HG06807.hp2
HG02559.hp1
HG06807.hp2
 intron_variant MODIFIER c.970-18376C>G
c.970-18376C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284602
chr1:2284663 G
G
 A
A
 2 a0001c0001t0002g0124
a0001c0001t0074g0192
a0001c0001t0002g0124
a0001c0001t0074g0192
 2 HG00423.hp1
HG02165.hp2
HG00423.hp1
HG02165.hp2
 intron_variant MODIFIER c.970-18315G>A
c.970-18315G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284663
chr1:2284690 C
C
 T
T
 2 a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0064g0311
a0001c0001t0065g0312
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.970-18288C>T
c.970-18288C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284690
chr1:2284748 G
G
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.970-18230G>T
c.970-18230G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284748
chr1:2284767 G
G
 A
A
 1 a0001c0001t0013g0177
a0001c0001t0013g0177
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.970-18211G>A
c.970-18211G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284767
chr1:2284801 C
C
 T
T
 1 a0001c0001t0002g0049
a0001c0001t0002g0049
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.970-18177C>T
c.970-18177C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284801
chr1:2284877 C
C
 T
T
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-18101C>T
c.970-18101C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284877
chr1:2284917 A
A
 G
G
 10 a0001c0001t0001g0304
a0001c0001t0002g0072
a0001c0001t0004g0325
others(7): Show 
a0001c0001t0001g0304
a0001c0001t0002g0072
a0001c0001t0004g0325
a0001c0001t0007g0305
a0001c0001t0009g0307
a0001c0001t0012g0258
a0001c0001t0033g0073
a0001c0001t0063g0259
a0001c0003t0001g0170
a0002c0002t0055g0183
 10 HG00642.hp1
HG02109.hp2
HG02280.hp2
others(7): Show 
HG00642.hp1
HG02109.hp2
HG02280.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.970-18061A>G
c.970-18061A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284917
chr1:2284929 T
T
 G
G
 177 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0072
a0001c0001t0002g0084
a0001c0001t0002g0109
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0022
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0253
a0001c0001t0006g0080
a0001c0001t0006g0142
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0108
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0201
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0036g0262
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0046g0057
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0086g0286
a0001c0003t0001g0170
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0009t0004g0064
a0001c0010t0048g0052
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 178 HG00423.hp1
HG00544.hp1
HG00544.hp2
others(175): Show 
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-18049T>G
c.970-18049T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284929
chr1:2284952 A
A
 G
G
 65 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0119
others(62): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0119
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0271
a0001c0001t0001g0299
a0001c0001t0002g0077
a0001c0001t0002g0129
a0001c0001t0002g0247
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0004g0118
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0253
a0001c0001t0006g0080
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0258
a0001c0001t0014g0144
a0001c0001t0018g0147
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0049g0087
a0001c0001t0063g0259
a0001c0001t0070g0074
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
 67 HG00099.hp1
HG00323.hp1
HG00621.hp1
others(64): Show 
HG00099.hp1
HG00323.hp1
HG00621.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG02015.hp2
HG02027.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02897.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18944.hp1
NA18967.hp2
NA18971.hp2
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19030.hp1
NA19043.hp1
NA19063.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-18026A>G
c.970-18026A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2284952
chr1:2285026 C
C
 T
T
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-17952C>T
c.970-17952C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285026
chr1:2285103 C
C
 G
G
 1 a0001c0006t0040g0053
a0001c0006t0040g0053
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.970-17875C>G
c.970-17875C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285103
chr1:2285139 C
C
 T
T
 1 a0001c0001t0008g0041
a0001c0001t0008g0041
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.970-17839C>T
c.970-17839C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285139
chr1:2285170 C
C
 T
T
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-17808C>T
c.970-17808C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285170
chr1:2285266 A
A
 G
G
 1 a0001c0001t0017g0272
a0001c0001t0017g0272
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.970-17712A>G
c.970-17712A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285266
chr1:2285267 C
C
 G
G
 8 a0001c0001t0001g0235
a0001c0001t0002g0222
a0001c0001t0005g0089
others(5): Show 
a0001c0001t0001g0235
a0001c0001t0002g0222
a0001c0001t0005g0089
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0083g0231
 8 HG00280.hp1
HG01099.hp2
HG01361.hp1
others(5): Show 
HG00280.hp1
HG01099.hp2
HG01361.hp1
HG01361.hp2
HG02055.hp2
HG03704.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-17711C>G
c.970-17711C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285267
chr1:2285320 A
A
 C
C
 4 a0001c0001t0002g0242
a0001c0001t0003g0197
a0001c0001t0003g0246
others(1): Show 
a0001c0001t0002g0242
a0001c0001t0003g0197
a0001c0001t0003g0246
a0001c0001t0082g0156
 4 NA18612.hp1
NA18947.hp1
NA19012.hp1
others(1): Show 
NA18612.hp1
NA18947.hp1
NA19012.hp1
NA19090.hp1
 intron_variant MODIFIER c.970-17658A>C
c.970-17658A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285320
chr1:2285387 T
T
 C
C
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.970-17591T>C
c.970-17591T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285387
chr1:2285447 G
G
 A
A
 5 a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0001g0283
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0148
a0001c0001t0001g0283
a0001c0001t0004g0275
a0001c0001t0012g0155
 5 NA18944.hp2
NA18961.hp1
NA18962.hp1
others(2): Show 
NA18944.hp2
NA18961.hp1
NA18962.hp1
NA18991.hp2
NA19070.hp2
 intron_variant MODIFIER c.970-17531G>A
c.970-17531G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285447
chr1:2285469 C
C
 T
T
 1 a0001c0009t0004g0064
a0001c0009t0004g0064
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.970-17509C>T
c.970-17509C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285469
chr1:2285487 C
C
 T
T
 11 a0001c0001t0002g0106
a0001c0001t0011g0003
a0001c0001t0011g0264
others(8): Show 
a0001c0001t0002g0106
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0012t0011g0266
a0002c0002t0011g0179
 12 HG02630.hp2
HG02647.hp1
HG02723.hp2
others(9): Show 
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02976.hp2
HG03139.hp1
HG03516.hp1
HG06807.hp2
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-17491C>T
c.970-17491C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285487
chr1:2285515 C
C
 CA
CA
 31 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0119
others(28): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0323
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0003g0032
a0001c0001t0003g0127
a0001c0001t0003g0163
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0007g0108
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0012g0155
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0042g0319
a0001c0001t0053g0082
a0001c0001t0077g0011
 31 HG00544.hp2
HG01993.hp2
HG02015.hp1
others(28): Show 
HG00544.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp2
HG02071.hp1
HG02165.hp2
HG02273.hp2
HG03654.hp1
HG03710.hp2
HG03831.hp1
NA18944.hp1
NA18944.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18962.hp1
NA18971.hp2
NA18980.hp2
NA18990.hp2
NA18991.hp2
NA19002.hp2
NA19030.hp2
NA19062.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp2
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-17458dupA
c.970-17458dupA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285515
chr1:2285572 G
G
 GT
GT
 86 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0078
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0006g0226
a0001c0001t0007g0061
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0016g0267
a0001c0001t0022g0303
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0069g0104
a0001c0001t0077g0011
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0006t0040g0053
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0043g0182
a0002c0002t0055g0183
 87 HG00544.hp2
HG00642.hp1
HG01243.hp1
others(84): Show 
HG00544.hp2
HG00642.hp1
HG01243.hp1
HG01243.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03654.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp2
NA18990.hp2
NA18991.hp2
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA19062.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp2
NA19088.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.970-17396dupT
c.970-17396dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285572
chr1:2285572 G
G
 GTT
GTT
 19 a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0235
others(16): Show 
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0235
a0001c0001t0002g0222
a0001c0001t0002g0256
a0001c0001t0005g0089
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0083g0231
a0001c0005t0003g0137
 19 HG00280.hp1
HG00609.hp1
HG00738.hp1
others(16): Show 
HG00280.hp1
HG00609.hp1
HG00738.hp1
HG00741.hp1
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp2
HG01975.hp1
HG02055.hp2
HG02698.hp1
HG03704.hp2
NA19000.hp2
NA19067.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-17397_970-1739
others(6): Show 
c.970-17397_970-17396dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285572
chr1:2285588 G
G
 A
A
 1 a0001c0001t0007g0281
a0001c0001t0007g0281
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.970-17390G>A
c.970-17390G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285588
chr1:2285616 G
G
 A
A
 4 a0001c0001t0002g0072
a0001c0001t0026g0295
a0001c0001t0033g0073
others(1): Show 
a0001c0001t0002g0072
a0001c0001t0026g0295
a0001c0001t0033g0073
a0002c0002t0022g0181
 4 HG02622.hp1
HG03098.hp2
HG03540.hp1
others(1): Show 
HG02622.hp1
HG03098.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.970-17362G>A
c.970-17362G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285616
chr1:2285626 G
G
 A
A
 42 a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0084
others(39): Show 
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0084
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0310
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0010g0164
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
 42 HG00323.hp1
HG00423.hp1
HG00609.hp2
others(39): Show 
HG00323.hp1
HG00423.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp2
HG01081.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01981.hp1
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02273.hp1
HG03239.hp1
HG03927.hp1
NA18612.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18971.hp1
NA18983.hp1
NA18991.hp1
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-17352G>A
c.970-17352G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285626
chr1:2285731 T
T
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.970-17247T>G
c.970-17247T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285731
chr1:2285757 G
G
 A
A
 12 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
others(9): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
a0001c0001t0009g0095
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0006t0040g0053
a0001c0012t0011g0266
a0002c0002t0011g0179
 13 HG02055.hp1
HG02630.hp2
HG02723.hp2
others(10): Show 
HG02055.hp1
HG02630.hp2
HG02723.hp2
HG02818.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-17221G>A
c.970-17221G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285757
chr1:2285856 G
G
 A
A
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-17122G>A
c.970-17122G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285856
chr1:2285870 G
G
 GT
GT
 20 a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0124
others(17): Show 
a0001c0001t0001g0240
a0001c0001t0001g0255
a0001c0001t0002g0124
a0001c0001t0002g0203
a0001c0001t0002g0277
a0001c0001t0003g0044
a0001c0001t0003g0234
a0001c0001t0004g0151
a0001c0001t0004g0230
a0001c0001t0009g0307
a0001c0001t0012g0067
a0001c0001t0013g0059
a0001c0001t0025g0238
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0041g0306
a0001c0001t0068g0145
a0001c0001t0073g0216
a0001c0001t0087g0168
a0002c0004t0002g0186
 20 HG00099.hp1
HG00621.hp2
HG00738.hp2
others(17): Show 
HG00099.hp1
HG00621.hp2
HG00738.hp2
HG00741.hp2
HG01123.hp2
HG01981.hp2
HG01993.hp1
HG02145.hp2
HG02165.hp2
HG02486.hp2
HG02818.hp1
HG02976.hp1
HG03098.hp1
HG03486.hp2
HG03490.hp2
NA18983.hp2
NA18990.hp1
NA19000.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.970-17087dupT
c.970-17087dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285870
chr1:2285870 G
G
 GTT
GTT
 16 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0004g0006
others(13): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0220
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0052g0007
 16 HG01099.hp1
HG01257.hp2
HG01517.hp1
others(13): Show 
HG01099.hp1
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02735.hp2
HG02738.hp2
HG03017.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
NA18945.hp1
NA18947.hp2
NA18982.hp2
NA19064.hp1
 intron_variant MODIFIER c.970-17088_970-1708
others(6): Show 
c.970-17088_970-17087dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285870
chr1:2285870 GT
GT
 G
G
 136 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0029
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0235
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0039
a0001c0001t0003g0046
a0001c0001t0003g0063
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0069
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0031g0321
a0001c0001t0037g0012
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0077g0011
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0043g0182
a0002c0002t0055g0183
a0003c0013t0032g0178
 136 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(133): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp2
NA18982.hp1
NA18984.hp2
NA18990.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19082.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-17087delT
c.970-17087delT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2285870
chr1:2285947 C
C
 T
T
 8 a0001c0001t0004g0260
a0001c0001t0021g0316
a0001c0001t0034g0190
others(5): Show 
a0001c0001t0004g0260
a0001c0001t0021g0316
a0001c0001t0034g0190
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0063g0259
a0001c0001t0068g0145
a0001c0001t0087g0168
 8 HG02109.hp2
HG02145.hp2
HG02717.hp1
others(5): Show 
HG02109.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02976.hp1
HG03486.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-17031C>T
c.970-17031C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285947
chr1:2285976 C
C
 T
T
 9 a0001c0001t0001g0125
a0001c0001t0002g0318
a0001c0001t0003g0063
others(6): Show 
a0001c0001t0001g0125
a0001c0001t0002g0318
a0001c0001t0003g0063
a0001c0001t0003g0158
a0001c0001t0007g0061
a0001c0001t0007g0162
a0001c0001t0012g0160
a0001c0001t0049g0087
a0001c0001t0054g0159
 9 HG01928.hp2
HG01952.hp1
HG01952.hp2
others(6): Show 
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG02300.hp2
HG03834.hp1
HG04199.hp1
NA18967.hp1
NA19000.hp2
 intron_variant MODIFIER c.970-17002C>T
c.970-17002C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2285976
chr1:2286259 T
T
 A
A
 1 a0001c0001t0005g0232
a0001c0001t0005g0232
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.970-16719T>A
c.970-16719T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286259
chr1:2286399 G
G
 A
A
 2 a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0016g0298
a0001c0001t0016g0317
 2 HG02922.hp2
NA18906.hp1
HG02922.hp2
NA18906.hp1
 intron_variant MODIFIER c.970-16579G>A
c.970-16579G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286399
chr1:2286595 C
C
 T
T
 1 a0001c0001t0012g0067
a0001c0001t0012g0067
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.970-16383C>T
c.970-16383C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286595
chr1:2286614 C
C
 A
A
 2 a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0016g0298
a0001c0001t0016g0317
 2 HG02922.hp2
NA18906.hp1
HG02922.hp2
NA18906.hp1
 intron_variant MODIFIER c.970-16364C>A
c.970-16364C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286614
chr1:2286661 C
C
 T
T
 30 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0003g0046
others(27): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0004g0218
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0031g0321
a0001c0001t0070g0074
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0043g0182
a0002c0002t0055g0183
 30 HG00621.hp1
HG00642.hp1
HG00741.hp2
others(27): Show 
HG00621.hp1
HG00642.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01243.hp1
HG01261.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02559.hp2
HG02647.hp2
HG02897.hp1
HG03017.hp2
HG03139.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG04184.hp1
HG04204.hp2
NA18967.hp2
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19030.hp1
NA19063.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-16317C>T
c.970-16317C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286661
chr1:2286690 T
T
 C
C
 38 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
others(35): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0280
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0010g0085
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0067g0097
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
 39 HG00099.hp1
HG00544.hp1
HG01099.hp1
others(36): Show 
HG00099.hp1
HG00544.hp1
HG01099.hp1
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03139.hp1
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18947.hp2
NA18964.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-16288T>C
c.970-16288T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286690
chr1:2286733 G
G
 A
A
 1 a0001c0001t0005g0157
a0001c0001t0005g0157
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.970-16245G>A
c.970-16245G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286733
chr1:2286801 G
G
 A
A
 3 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
 3 HG03516.hp1
NA19043.hp1
NA21309.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-16177G>A
c.970-16177G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286801
chr1:2286825 T
T
 G
G
 38 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
others(35): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0280
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0010g0085
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0067g0097
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
 39 HG00099.hp1
HG00544.hp1
HG01099.hp1
others(36): Show 
HG00099.hp1
HG00544.hp1
HG01099.hp1
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03139.hp1
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18947.hp2
NA18964.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-16153T>G
c.970-16153T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286825
chr1:2286826 T
T
 C
C
 38 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
others(35): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0154
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0280
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0010g0085
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0067g0097
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
 39 HG00099.hp1
HG00544.hp1
HG01099.hp1
others(36): Show 
HG00099.hp1
HG00544.hp1
HG01099.hp1
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03139.hp1
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18947.hp2
NA18964.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-16152T>C
c.970-16152T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286826
chr1:2286993 C
C
 T
T
 2 a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0003t0020g0014
a0001c0003t0020g0015
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.970-15985C>T
c.970-15985C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286993
chr1:2286995 T
T
 G
G
 1 a0001c0001t0024g0005
a0001c0001t0024g0005
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.970-15983T>G
c.970-15983T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2286995
chr1:2287068 C
C
 T
T
 30 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0003g0046
others(27): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0004g0218
a0001c0001t0007g0004
a0001c0001t0007g0098
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0015g0236
a0001c0001t0018g0147
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0031g0321
a0001c0001t0070g0074
a0001c0001t0081g0083
a0001c0001t0086g0286
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0043g0182
a0002c0002t0055g0183
 30 HG00621.hp1
HG00642.hp1
HG00741.hp2
others(27): Show 
HG00621.hp1
HG00642.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01243.hp1
HG01261.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02559.hp2
HG02647.hp2
HG02897.hp1
HG03017.hp2
HG03139.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG04184.hp1
HG04204.hp2
NA18967.hp2
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19030.hp1
NA19063.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-15910C>T
c.970-15910C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287068
chr1:2287110 C
C
 T
T
 1 a0001c0001t0015g0201
a0001c0001t0015g0201
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.970-15868C>T
c.970-15868C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287110
chr1:2287141 C
C
 T
T
 2 a0001c0001t0002g0154
a0001c0001t0003g0280
a0001c0001t0002g0154
a0001c0001t0003g0280
 2 HG00544.hp1
NA18964.hp1
HG00544.hp1
NA18964.hp1
 intron_variant MODIFIER c.970-15837C>T
c.970-15837C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287141
chr1:2287170 C
C
 T
T
 1 a0001c0001t0002g0123
a0001c0001t0002g0123
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.970-15808C>T
c.970-15808C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287170
chr1:2287207 C
C
 T
T
 10 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(7): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0067g0097
a0001c0012t0011g0266
a0002c0002t0011g0179
 11 HG02630.hp2
HG02723.hp2
HG02886.hp2
others(8): Show 
HG02630.hp2
HG02723.hp2
HG02886.hp2
HG02976.hp2
HG03139.hp1
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15771C>T
c.970-15771C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287207
chr1:2287208 G
G
 A
A
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-15770G>A
c.970-15770G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287208
chr1:2287338 A
A
 AT
AT
 94 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0240
others(91): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0304
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0280
a0001c0001t0004g0006
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0260
a0001c0001t0005g0066
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0009g0095
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0034g0190
a0001c0001t0038g0212
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0070g0074
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0007t0078g0269
a0001c0009t0004g0064
 94 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(91): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01517.hp1
HG01981.hp1
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02559.hp1
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG03017.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18964.hp1
NA18971.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18991.hp1
NA18995.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19012.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.970-15624dupT
c.970-15624dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2287338
chr1:2287338 A
A
 ATT
ATT
 131 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(128): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0235
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0224
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0114
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0302
a0001c0001t0008g0140
a0001c0001t0008g0239
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0013g0069
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0062g0257
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0077g0011
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0015t0002g0185
a0003c0013t0032g0178
 131 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(128): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00642.hp1
HG00733.hp2
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18990.hp2
NA18991.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-15625_970-1562
others(6): Show 
c.970-15625_970-15624dupTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2287338
chr1:2287338 A
A
 ATTT
ATTT
 12 a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
others(9): Show 
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0047g0293
a0001c0012t0011g0266
 13 HG02055.hp1
HG02630.hp2
HG02723.hp2
others(10): Show 
HG02055.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp2
HG02976.hp2
HG03139.hp1
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15626_970-1562
others(7): Show 
c.970-15626_970-15624dupTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2287338
chr1:2287389 G
G
 T
T
 114 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0240
others(111): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0280
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0142
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0007g0281
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0069
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0018g0028
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0045g0294
a0001c0001t0047g0293
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0015t0002g0185
a0003c0013t0032g0178
 115 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(112): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01981.hp1
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02273.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18964.hp1
NA18971.hp1
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18991.hp1
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15589G>T
c.970-15589G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287389
chr1:2287405 C
C
 T
T
 1 a0001c0001t0003g0234
a0001c0001t0003g0234
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.970-15573C>T
c.970-15573C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287405
chr1:2287422 C
C
 T
T
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-15556C>T
c.970-15556C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287422
chr1:2287437 C
C
 T
T
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-15541C>T
c.970-15541C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287437
chr1:2287481 T
T
 C
C
 28 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0106
others(25): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0106
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0085
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0010t0048g0052
 28 HG00099.hp1
HG01099.hp1
HG01123.hp2
others(25): Show 
HG00099.hp1
HG01099.hp1
HG01123.hp2
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG03017.hp1
HG03098.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18945.hp1
NA18947.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp2
NA19064.hp1
NA19066.hp1
 intron_variant MODIFIER c.970-15497T>C
c.970-15497T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287481
chr1:2287482 G
G
 A
A
 1 a0001c0001t0018g0028
a0001c0001t0018g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.970-15496G>A
c.970-15496G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287482
chr1:2287496 C
C
 T
T
 1 a0001c0001t0010g0085
a0001c0001t0010g0085
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.970-15482C>T
c.970-15482C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287496
chr1:2287498 A
A
 G
G
 29 a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0106
others(26): Show 
a0001c0001t0001g0132
a0001c0001t0001g0146
a0001c0001t0002g0106
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0006g0142
a0001c0001t0006g0226
a0001c0001t0007g0281
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0010g0085
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0018g0028
a0001c0001t0023g0091
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0052g0007
a0001c0001t0058g0297
a0001c0001t0081g0083
a0001c0010t0048g0052
 29 HG00099.hp1
HG01099.hp1
HG01123.hp2
others(26): Show 
HG00099.hp1
HG01099.hp1
HG01123.hp2
HG01257.hp2
HG01517.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG03017.hp1
HG03098.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18945.hp1
NA18947.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA19064.hp1
NA19066.hp1
 intron_variant MODIFIER c.970-15480A>G
c.970-15480A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287498
chr1:2287526 C
C
 T
T
 79 a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0075
others(76): Show 
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0280
a0001c0001t0004g0248
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0069
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0038g0212
a0001c0001t0047g0293
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0009t0004g0064
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0015t0002g0185
a0003c0013t0032g0178
 80 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01981.hp1
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02273.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02896.hp2
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18964.hp1
NA18971.hp1
NA18983.hp1
NA18991.hp1
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15452C>T
c.970-15452C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287526
chr1:2287529 G
G
 A
A
 77 a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0075
others(74): Show 
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0002g0326
a0001c0001t0003g0117
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0248
a0001c0001t0005g0066
a0001c0001t0005g0153
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0069
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0038g0212
a0001c0001t0047g0293
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0088g0120
a0001c0009t0004g0064
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0015t0002g0185
a0003c0013t0032g0178
 78 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(75): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01981.hp1
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02273.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02896.hp2
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18971.hp1
NA18983.hp1
NA18991.hp1
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15449G>A
c.970-15449G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287529
chr1:2287628 G
G
 A
A
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-15350G>A
c.970-15350G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287628
chr1:2287655 G
G
 C
C
 2 a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0016g0298
a0001c0001t0016g0317
 2 HG02922.hp2
NA18906.hp1
HG02922.hp2
NA18906.hp1
 intron_variant MODIFIER c.970-15323G>C
c.970-15323G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287655
chr1:2287669 G
G
 A
A
 2 a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0016g0298
a0001c0001t0016g0317
 2 HG02922.hp2
NA18906.hp1
HG02922.hp2
NA18906.hp1
 intron_variant MODIFIER c.970-15309G>A
c.970-15309G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287669
chr1:2287679 C
C
 T
T
 1 a0001c0001t0003g0044
a0001c0001t0003g0044
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.970-15299C>T
c.970-15299C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287679
chr1:2287839 C
C
 T
T
 2 a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0028g0055
a0001c0001t0029g0056
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15139C>T
c.970-15139C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287839
chr1:2287876 C
C
 G
G
 18 a0001c0001t0002g0326
a0001c0001t0004g0260
a0001c0001t0005g0153
others(15): Show 
a0001c0001t0002g0326
a0001c0001t0004g0260
a0001c0001t0005g0153
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0021g0316
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0034g0190
a0001c0001t0045g0294
a0001c0001t0063g0259
a0001c0012t0011g0266
a0002c0002t0011g0179
 19 HG00733.hp2
HG00741.hp1
HG02109.hp2
others(16): Show 
HG00733.hp2
HG00741.hp1
HG02109.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03516.hp1
HG06807.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-15102C>G
c.970-15102C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287876
chr1:2287883 C
C
 G
G
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0012t0011g0266
a0002c0002t0011g0179
 7 HG02630.hp2
HG02723.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02723.hp2
HG02976.hp2
HG03139.hp1
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-15095C>G
c.970-15095C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287883
chr1:2287970 C
C
 G
G
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-15008C>G
c.970-15008C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2287970
chr1:2288000 T
T
 G
G
 52 a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0084
others(49): Show 
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0002g0084
a0001c0001t0002g0203
a0001c0001t0002g0242
a0001c0001t0002g0256
a0001c0001t0003g0117
a0001c0001t0003g0143
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0004g0248
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0006g0065
a0001c0001t0006g0211
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0010g0164
a0001c0001t0012g0067
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0015g0201
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0038g0212
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0082g0156
a0001c0009t0004g0064
a0002c0015t0002g0185
 52 HG00323.hp1
HG00423.hp1
HG00609.hp2
others(49): Show 
HG00323.hp1
HG00423.hp1
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01515.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02273.hp1
HG02735.hp1
HG03239.hp1
HG03704.hp1
HG03927.hp1
HG03942.hp2
NA18612.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18959.hp1
NA18962.hp2
NA18971.hp1
NA18983.hp1
NA18991.hp1
NA18998.hp2
NA19000.hp1
NA19011.hp2
NA19012.hp1
NA19068.hp1
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-14978T>G
c.970-14978T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288000
chr1:2288009 A
A
 G
G
 1 a0001c0001t0049g0087
a0001c0001t0049g0087
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.970-14969A>G
c.970-14969A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288009
chr1:2288040 C
C
 G
G
 2 a0001c0001t0003g0274
a0001c0001t0017g0272
a0001c0001t0003g0274
a0001c0001t0017g0272
 2 NA18977.hp1
NA18984.hp1
NA18977.hp1
NA18984.hp1
 intron_variant MODIFIER c.970-14938C>G
c.970-14938C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288040
chr1:2288081 C
C
 T
T
 1 a0001c0001t0006g0211
a0001c0001t0006g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.970-14897C>T
c.970-14897C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288081
chr1:2288145 C
C
 T
T
 1 a0001c0001t0024g0169
a0001c0001t0024g0169
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-14833C>T
c.970-14833C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288145
chr1:2288174 A
A
 T
T
 43 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0124
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0124
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0004g0218
a0001c0001t0005g0066
a0001c0001t0006g0284
a0001c0001t0007g0004
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0014g0051
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0017g0068
a0001c0001t0018g0147
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0070g0074
a0001c0001t0081g0083
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0008t0021g0252
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0043g0182
a0002c0002t0055g0183
a0003c0013t0032g0178
 44 HG00621.hp1
HG00642.hp1
HG00741.hp2
others(41): Show 
HG00621.hp1
HG00642.hp1
HG00741.hp2
HG01070.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp2
HG02027.hp1
HG02165.hp2
HG02280.hp1
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03654.hp2
HG04184.hp1
HG04204.hp2
NA18522.hp2
NA18967.hp2
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19082.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.970-14804A>T
c.970-14804A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288174
chr1:2288207 G
G
 A
A
 3 a0001c0001t0002g0154
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0002g0154
a0001c0001t0005g0157
a0001c0001t0005g0161
 3 HG00544.hp1
HG01993.hp2
HG02273.hp2
HG00544.hp1
HG01993.hp2
HG02273.hp2
 intron_variant MODIFIER c.970-14771G>A
c.970-14771G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288207
chr1:2288423 G
G
 A
A
 1 a0001c0001t0005g0253
a0001c0001t0005g0253
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.970-14555G>A
c.970-14555G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288423
chr1:2288441 A
A
 C
C
 5 a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0176
others(2): Show 
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0060g0058
 5 HG00735.hp2
HG01261.hp1
HG03490.hp2
others(2): Show 
HG00735.hp2
HG01261.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
 intron_variant MODIFIER c.970-14537A>C
c.970-14537A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288441
chr1:2288615 C
C
 T
T
 1 a0001c0001t0005g0227
a0001c0001t0005g0227
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.970-14363C>T
c.970-14363C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288615
chr1:2288631 T
T
 A
A
 30 a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
others(27): Show 
a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
a0001c0001t0002g0222
a0001c0001t0003g0234
a0001c0001t0003g0251
a0001c0001t0005g0066
a0001c0001t0005g0253
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0300
a0001c0001t0006g0324
a0001c0001t0008g0111
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0024g0005
a0001c0001t0061g0138
a0001c0001t0070g0074
a0001c0001t0074g0192
a0001c0001t0079g0128
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0043g0182
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 31 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(28): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01169.hp2
HG01243.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02074.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02647.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03688.hp2
HG04115.hp2
HG04199.hp2
NA18950.hp2
NA18980.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.970-14347T>A
c.970-14347T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288631
chr1:2288651 A
A
 C
C
 1 a0001c0001t0026g0050
a0001c0001t0026g0050
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.970-14327A>C
c.970-14327A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288651
chr1:2288687 G
G
 C
C
 1 a0002c0002t0011g0179
a0002c0002t0011g0179
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.970-14291G>C
c.970-14291G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288687
chr1:2288868 C
C
 G
G
 3 a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
 3 HG01123.hp2
HG02818.hp1
HG03098.hp1
HG01123.hp2
HG02818.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-14110C>G
c.970-14110C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288868
chr1:2288873 C
C
 A
A
 1 a0001c0001t0030g0054
a0001c0001t0030g0054
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.970-14105C>A
c.970-14105C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288873
chr1:2288952 C
C
 T
T
 18 a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0011g0264
others(15): Show 
a0001c0001t0009g0095
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0034g0190
a0001c0001t0056g0315
a0001c0001t0067g0097
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0055g0183
 19 HG00642.hp1
HG01891.hp1
HG02630.hp2
others(16): Show 
HG00642.hp1
HG01891.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03139.hp1
HG03453.hp2
HG03486.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-14026C>T
c.970-14026C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288952
chr1:2288953 G
G
 A
A
 1 a0001c0001t0086g0286
a0001c0001t0086g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.970-14025G>A
c.970-14025G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288953
chr1:2288986 T
T
 C
C
 262 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(259): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0003c0013t0032g0178
 265 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(262): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-13992T>C
c.970-13992T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288986
chr1:2288990 G
G
 A
A
 2 a0001c0001t0015g0126
a0001c0005t0003g0137
a0001c0001t0015g0126
a0001c0005t0003g0137
 2 HG00609.hp1
NA19067.hp1
HG00609.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-13988G>A
c.970-13988G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2288990
chr1:2289078 A
A
 C
C
 174 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(171): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 176 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(173): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-13900A>C
c.970-13900A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289078
chr1:2289116 C
C
 T
T
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-13862C>T
c.970-13862C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289116
chr1:2289182 G
G
 A
A
 1 a0001c0003t0009g0173
a0001c0003t0009g0173
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.970-13796G>A
c.970-13796G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289182
chr1:2289194 C
C
 T
T
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.970-13784C>T
c.970-13784C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289194
chr1:2289210 C
C
 T
T
 176 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(173): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
 178 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(175): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-13768C>T
c.970-13768C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289210
chr1:2289236 C
C
 T
T
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-13742C>T
c.970-13742C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289236
chr1:2289467 C
C
 CGCAGGGC
others(74): Show 
CGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGGGTGCAGGG
CAGGGCAGGAGAACCAAGATCGGGGTGGGGGT
 7 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
others(4): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
a0001c0001t0009g0307
a0001c0001t0010g0096
a0001c0001t0035g0261
a0001c0001t0036g0262
 7 HG01123.hp2
HG02055.hp1
HG02818.hp1
others(4): Show 
HG01123.hp2
HG02055.hp1
HG02818.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03471.hp2
 intron_variant MODIFIER c.970-13439_970-1335
others(85): Show 
c.970-13439_970-13359dupGGGTGGGGGTGCAGGGCAGGGCAGGA
GAACCAAGATCGTGGGGGTGGGGGGGTGCAGGGCAGGGCAGGAGAACCAA
GATCG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289467
chr1:2289541 G
G
 T
T
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.970-13437G>T
c.970-13437G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289541
chr1:2289542 T
T
 TGGGGGTG
others(36): Show 
TGGGGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGG
 83 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(80): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0005g0153
a0001c0001t0005g0253
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0012g0155
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0018g0028
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0002c0002t0002g0002
 84 HG00099.hp1
HG00609.hp2
HG00621.hp2
others(81): Show 
HG00099.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02559.hp1
HG02735.hp2
HG02896.hp2
HG03017.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19057.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-13389_970-1334
others(47): Show 
c.970-13389_970-13347dupGGTGCAGGGCAGGGCAGGAGAACCAA
GATCGTGGGGGTGGGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289542
chr1:2289542 T
T
 TGGGGGTG
others(36): Show 
TGGGGGTGCAGGGCAGGGCAGGAGAACCAAGATCTTGGGGGTGG
 1 a0001c0001t0006g0300
a0001c0001t0006g0300
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.970-13403_970-1340
others(47): Show 
c.970-13403_970-13402insTTGGGGGTGGGGGGGTGCAGGGCAGG
GCAGGAGAACCAAGATC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289542
chr1:2289544 G
G
 GGGGTGCA
others(36): Show 
GGGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGA
 33 a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
others(30): Show 
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0224
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 33 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(30): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01515.hp1
HG01884.hp1
HG02015.hp2
HG02074.hp1
HG02486.hp2
HG02572.hp1
HG02897.hp1
HG03017.hp2
HG03098.hp2
HG03490.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
NA18983.hp2
NA19011.hp2
NA19066.hp2
NA19074.hp2
NA19088.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-13392_970-1339
others(47): Show 
c.970-13392_970-13391insAGGGTGCAGGGCAGGGCAGGAGAACC
AAGATCGTGGGGGTGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289544
chr1:2289589 G
G
 A
A
 2 a0001c0001t0006g0300
a0001c0001t0029g0056
a0001c0001t0006g0300
a0001c0001t0029g0056
 2 HG01074.hp1
HG03516.hp1
HG01074.hp1
HG03516.hp1
 intron_variant MODIFIER c.970-13389G>A
c.970-13389G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289589
chr1:2289589 G
G
 GGGTGCAG
others(37): Show 
GGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGA
 1 a0001c0001t0073g0216
a0001c0001t0073g0216
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.970-13388_970-1338
others(48): Show 
c.970-13388_970-13387insGTGCAGGGCAGGGCAGGAGAACCAAG
ATCGTGGGGGTGGGGGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289589
chr1:2289589 G
G
 GGTGCAGG
others(36): Show 
GGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGA
 27 a0001c0001t0002g0203
a0001c0001t0003g0191
a0001c0001t0003g0204
others(24): Show 
a0001c0001t0002g0203
a0001c0001t0003g0191
a0001c0001t0003g0204
a0001c0001t0004g0260
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0324
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0015g0201
a0001c0001t0023g0139
a0001c0001t0030g0054
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0072g0200
a0001c0001t0074g0192
a0001c0009t0004g0064
 27 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(24): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00673.hp1
HG01169.hp2
HG01346.hp1
HG01981.hp2
HG02074.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
NA18945.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp2
NA18971.hp1
NA18991.hp1
NA18998.hp2
NA19043.hp1
NA19084.hp1
NA19084.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-13347_970-1334
others(47): Show 
c.970-13347_970-13346insAGTGCAGGGCAGGGCAGGAGAACCAA
GATCGTGGGGGTGGGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289589
chr1:2289589 G
G
 GGTGCAGG
others(36): Show 
GGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTTGGGGA
 1 a0001c0001t0006g0310
a0001c0001t0006g0310
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.970-13352_970-1335
others(47): Show 
c.970-13352_970-13351insTGGGGAGTGCAGGGCAGGGCAGGAGA
ACCAAGATCGTGGGGGT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2289589
chr1:2289669 G
G
 A
A
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0043g0182
 7 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-13309G>A
c.970-13309G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289669
chr1:2289693 G
G
 A
A
 5 a0001c0001t0002g0320
a0001c0001t0009g0099
a0001c0001t0009g0100
others(2): Show 
a0001c0001t0002g0320
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0069g0104
 5 HG02145.hp1
HG02258.hp2
HG02615.hp2
others(2): Show 
HG02145.hp1
HG02258.hp2
HG02615.hp2
HG02809.hp2
HG02922.hp1
 intron_variant MODIFIER c.970-13285G>A
c.970-13285G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289693
chr1:2289707 C
C
 T
T
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-13271C>T
c.970-13271C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289707
chr1:2289764 C
C
 T
T
 2 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0093
a0001c0001t0002g0094
 2 HG03041.hp2
HG03471.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-13214C>T
c.970-13214C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289764
chr1:2289783 A
A
 C
C
 104 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(101): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0318
a0001c0001t0003g0019
a0001c0001t0003g0209
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0308
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0011t0039g0071
a0002c0002t0022g0181
 104 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(101): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02071.hp1
HG02109.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18971.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-13195A>C
c.970-13195A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289783
chr1:2289834 C
C
 A
A
 173 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(170): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 175 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(172): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18991.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-13144C>A
c.970-13144C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289834
chr1:2289896 G
G
 T
T
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-13082G>T
c.970-13082G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289896
chr1:2289973 C
C
 G
G
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-13005C>G
c.970-13005C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2289973
chr1:2290095 A
A
 G
G
 172 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 174 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(171): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18991.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-12883A>G
c.970-12883A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290095
chr1:2290105 G
G
 C
C
 1 a0001c0001t0007g0302
a0001c0001t0007g0302
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.970-12873G>C
c.970-12873G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290105
chr1:2290195 G
G
 C
C
 172 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 174 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(171): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18991.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-12783G>C
c.970-12783G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290195
chr1:2290197 A
A
 T
T
 172 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 174 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(171): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18991.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-12781A>T
c.970-12781A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290197
chr1:2290368 C
C
 T
T
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-12610C>T
c.970-12610C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290368
chr1:2290399 G
G
 A
A
 27 a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
others(24): Show 
a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0061g0138
a0001c0001t0070g0074
a0001c0001t0081g0083
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
 28 HG00621.hp1
HG00741.hp1
HG00741.hp2
others(25): Show 
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp1
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG03139.hp2
HG03688.hp2
HG04115.hp2
HG04199.hp2
NA18947.hp1
NA18948.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-12579G>A
c.970-12579G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290399
chr1:2290536 C
C
 CG
CG
 119 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(116): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 120 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(117): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-12439dupG
c.970-12439dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2290536
chr1:2290537 G
G
 A
A
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.970-12441G>A
c.970-12441G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290537
chr1:2290573 A
A
 AG
AG
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0043g0182
 7 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(4): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-12401dupG
c.970-12401dupG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2290573
chr1:2290637 G
G
 A
A
 174 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(171): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0077
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0140
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0087g0168
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 176 HG00280.hp1
HG00438.hp1
HG00609.hp1
others(173): Show 
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18961.hp1
NA18967.hp2
NA18971.hp2
NA18980.hp1
NA18982.hp1
NA18984.hp2
NA18991.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.970-12341G>A
c.970-12341G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290637
chr1:2290738 G
G
 A
A
 84 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(81): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0002c0002t0002g0002
 85 HG00099.hp1
HG00609.hp2
HG00621.hp2
others(82): Show 
HG00099.hp1
HG00609.hp2
HG00621.hp2
HG01081.hp1
HG01081.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02735.hp2
HG02896.hp2
HG03017.hp1
HG03239.hp1
HG03491.hp1
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-12240G>A
c.970-12240G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290738
chr1:2290750 G
G
 T
T
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-12228G>T
c.970-12228G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290750
chr1:2290771 T
T
 A
A
 2 a0001c0001t0004g0325
a0001c0003t0001g0170
a0001c0001t0004g0325
a0001c0003t0001g0170
 2 HG02280.hp2
HG03041.hp1
HG02280.hp2
HG03041.hp1
 intron_variant MODIFIER c.970-12207T>A
c.970-12207T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290771
chr1:2290778 C
C
 G
G
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-12200C>G
c.970-12200C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290778
chr1:2290779 C
C
 T
T
 4 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
others(1): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0322
a0001c0001t0010g0096
 4 HG02055.hp1
HG03041.hp2
HG03209.hp1
others(1): Show 
HG02055.hp1
HG03041.hp2
HG03209.hp1
HG03471.hp2
 intron_variant MODIFIER c.970-12199C>T
c.970-12199C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290779
chr1:2290805 C
C
 T
T
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.970-12173C>T
c.970-12173C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290805
chr1:2290929 G
G
 A
A
 118 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(115): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 119 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(116): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-12049G>A
c.970-12049G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290929
chr1:2290985 G
G
 A
A
 1 a0001c0001t0014g0051
a0001c0001t0014g0051
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.970-11993G>A
c.970-11993G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2290985
chr1:2291058 G
G
 A
A
 118 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(115): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 119 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(116): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11920G>A
c.970-11920G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291058
chr1:2291112 C
C
 T
T
 1 a0001c0001t0041g0306
a0001c0001t0041g0306
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.970-11866C>T
c.970-11866C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291112
chr1:2291121 A
A
 G
G
 293 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 296 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(293): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11857A>G
c.970-11857A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291121
chr1:2291144 T
T
 C
C
 293 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 296 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(293): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11834T>C
c.970-11834T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291144
chr1:2291168 CTGTT
CTGTT
 C
C
 17 a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0320
others(14): Show 
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0096
a0001c0001t0020g0167
a0001c0001t0024g0169
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0002t0055g0183
 17 HG00642.hp1
HG01891.hp1
HG02055.hp1
others(14): Show 
HG00642.hp1
HG01891.hp1
HG02055.hp1
HG02145.hp1
HG02258.hp2
HG02615.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.970-11808_970-1180
others(8): Show 
c.970-11808_970-11805delGTTT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2291168
chr1:2291275 G
G
 A
A
 1 a0001c0014t0001g0174
a0001c0014t0001g0174
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.970-11703G>A
c.970-11703G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291275
chr1:2291282 G
G
 A
A
 4 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(1): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0010g0092
 4 HG01109.hp2
HG01884.hp1
HG02572.hp1
others(1): Show 
HG01109.hp2
HG01884.hp1
HG02572.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-11696G>A
c.970-11696G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291282
chr1:2291401 G
G
 A
A
 1 a0001c0001t0003g0274
a0001c0001t0003g0274
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.970-11577G>A
c.970-11577G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291401
chr1:2291535 A
A
 G
G
 2 a0001c0001t0002g0301
a0001c0001t0003g0032
a0001c0001t0002g0301
a0001c0001t0003g0032
 2 HG04184.hp2
NA19070.hp1
HG04184.hp2
NA19070.hp1
 intron_variant MODIFIER c.970-11443A>G
c.970-11443A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291535
chr1:2291613 CCT
CCT
 C
C
 151 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(148): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0201
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 152 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11363_970-1136
others(6): Show 
c.970-11363_970-11362delTC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2291613
chr1:2291684 T
T
 C
C
 291 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 294 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(291): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11294T>C
c.970-11294T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291684
chr1:2291705 TG
TG
 T
T
 292 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(289): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 295 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(292): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11266delG
c.970-11266delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2291705
chr1:2291799 C
C
 CT
CT
 4 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
others(1): Show 
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0010g0092
 4 HG01109.hp2
HG01884.hp1
HG02572.hp1
others(1): Show 
HG01109.hp2
HG01884.hp1
HG02572.hp1
NA20300.hp1
 intron_variant MODIFIER c.970-11174dupT
c.970-11174dupT
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2291799
chr1:2291807 C
C
 T
T
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-11171C>T
c.970-11171C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291807
chr1:2291816 C
C
 T
T
 1 a0001c0001t0045g0294
a0001c0001t0045g0294
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.970-11162C>T
c.970-11162C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291816
chr1:2291819 T
T
 C
C
 293 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 296 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(293): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-11159T>C
c.970-11159T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291819
chr1:2291895 A
A
 G
G
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.970-11083A>G
c.970-11083A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2291895
chr1:2292050 G
G
 A
A
 1 a0001c0001t0004g0134
a0001c0001t0004g0134
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.970-10928G>A
c.970-10928G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292050
chr1:2292070 C
C
 T
T
 1 a0001c0001t0002g0036
a0001c0001t0002g0036
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.970-10908C>T
c.970-10908C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292070
chr1:2292171 G
G
 A
A
 1 a0001c0001t0003g0209
a0001c0001t0003g0209
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.970-10807G>A
c.970-10807G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292171
chr1:2292206 C
C
 T
T
 27 a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
others(24): Show 
a0001c0001t0001g0001
a0001c0001t0002g0077
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0061g0138
a0001c0001t0070g0074
a0001c0001t0081g0083
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
 28 HG00621.hp1
HG00741.hp1
HG00741.hp2
others(25): Show 
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp1
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG03139.hp2
HG03688.hp2
HG04115.hp2
HG04199.hp2
NA18947.hp1
NA18948.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-10772C>T
c.970-10772C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292206
chr1:2292215 G
G
 A
A
 2 a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0313
a0001c0001t0001g0314
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.970-10763G>A
c.970-10763G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292215
chr1:2292230 G
G
 T
T
 2 a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0046g0057
a0001c0001t0047g0293
 2 HG03579.hp1
HG06807.hp2
HG03579.hp1
HG06807.hp2
 intron_variant MODIFIER c.970-10748G>T
c.970-10748G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292230
chr1:2292245 C
C
 T
T
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-10733C>T
c.970-10733C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292245
chr1:2292268 G
G
 C
C
 3 a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
 3 HG01123.hp2
HG02818.hp1
HG03098.hp1
HG01123.hp2
HG02818.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-10710G>C
c.970-10710G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292268
chr1:2292280 T
T
 C
C
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-10698T>C
c.970-10698T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292280
chr1:2292362 C
C
 G
G
 3 a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
 3 HG01123.hp2
HG02818.hp1
HG03098.hp1
HG01123.hp2
HG02818.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-10616C>G
c.970-10616C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292362
chr1:2292363 G
G
 A
A
 1 a0001c0001t0017g0068
a0001c0001t0017g0068
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.970-10615G>A
c.970-10615G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292363
chr1:2292427 C
C
 T
T
 117 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(114): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 118 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(115): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-10551C>T
c.970-10551C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292427
chr1:2292788 G
G
 A
A
 4 a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0021g0316
others(1): Show 
a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0021g0316
a0001c0001t0026g0295
 4 HG02622.hp1
HG02647.hp1
HG02717.hp1
others(1): Show 
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-10190G>A
c.970-10190G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292788
chr1:2292806 C
C
 T
T
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.970-10172C>T
c.970-10172C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292806
chr1:2292843 A
A
 G
G
 293 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 296 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(293): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-10135A>G
c.970-10135A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292843
chr1:2292928 G
G
 T
T
 58 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0141
others(55): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0141
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0109
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0013g0079
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0002c0002t0002g0002
 59 HG00609.hp2
HG00621.hp2
HG01081.hp2
others(56): Show 
HG00609.hp2
HG00621.hp2
HG01081.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02027.hp2
HG02071.hp2
HG02155.hp1
HG02165.hp1
HG02896.hp2
HG03239.hp1
HG03491.hp1
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-10050G>T
c.970-10050G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292928
chr1:2292992 C
C
 T
T
 1 a0001c0001t0009g0095
a0001c0001t0009g0095
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.970-9986C>T
c.970-9986C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2292992
chr1:2293170 T
T
 G
G
 295 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(292): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 298 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(295): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9808T>G
c.970-9808T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293170
chr1:2293206 A
A
 G
G
 293 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(290): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 296 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(293): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9772A>G
c.970-9772A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293206
chr1:2293248 C
C
 T
T
 1 a0001c0001t0002g0106
a0001c0001t0002g0106
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.970-9730C>T
c.970-9730C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293248
chr1:2293271 C
C
 G
G
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.970-9707C>G
c.970-9707C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293271
chr1:2293286 C
C
 T
T
 12 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(9): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0003g0019
 12 HG01975.hp2
HG01981.hp1
HG01993.hp1
others(9): Show 
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp2
NA18946.hp2
NA18984.hp2
NA19007.hp1
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19082.hp2
NA19091.hp1
 intron_variant MODIFIER c.970-9692C>T
c.970-9692C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293286
chr1:2293318 C
C
 A
A
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.970-9660C>A
c.970-9660C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293318
chr1:2293397 G
G
 A
A
 140 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(137): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0027g0245
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0011g0179
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0002g0186
a0002c0015t0002g0185
 142 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp2
HG02273.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9581G>A
c.970-9581G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293397
chr1:2293423 C
C
 T
T
 1 a0001c0001t0068g0145
a0001c0001t0068g0145
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.970-9555C>T
c.970-9555C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293423
chr1:2293427 G
G
 GC
GC
 216 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(213): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0006g0226
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0013g0059
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0149
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0027g0245
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0073g0216
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0022g0181
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 217 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(214): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9542dupC
c.970-9542dupC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2293427
chr1:2293427 G
G
 GCC
GCC
 29 a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0166
others(26): Show 
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0166
a0001c0001t0001g0235
a0001c0001t0001g0304
a0001c0001t0002g0322
a0001c0001t0003g0116
a0001c0001t0003g0158
a0001c0001t0003g0209
a0001c0001t0004g0009
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0006g0142
a0001c0001t0010g0208
a0001c0001t0012g0160
a0001c0001t0012g0258
a0001c0001t0013g0060
a0001c0001t0013g0176
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0018g0028
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0049g0087
a0001c0001t0051g0276
a0001c0001t0053g0082
a0001c0001t0075g0023
a0001c0003t0007g0171
a0002c0002t0055g0183
 29 HG00438.hp1
HG00642.hp1
HG00642.hp2
others(26): Show 
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01261.hp2
HG01517.hp1
HG01952.hp1
HG01952.hp2
HG02055.hp2
HG02071.hp1
HG02630.hp1
HG02698.hp1
HG03209.hp1
HG03209.hp2
HG03669.hp2
HG03688.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18995.hp2
NA19000.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA20300.hp2
 intron_variant MODIFIER c.970-9543_970-9542d
others(4): Show 
c.970-9543_970-9542dupCC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2293427
chr1:2293436 CA
CA
 C
C
 3 a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0009g0307
a0001c0001t0035g0261
a0001c0001t0036g0262
 3 HG01123.hp2
HG02818.hp1
HG03098.hp1
HG01123.hp2
HG02818.hp1
HG03098.hp1
 intron_variant MODIFIER c.970-9540delA
c.970-9540delA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2293436
chr1:2293437 A
A
 C
C
 290 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(287): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0080
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0284
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0066g0282
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0002g0186
a0002c0015t0002g0185
 292 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(289): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9541A>C
c.970-9541A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293437
chr1:2293437 A
A
 G
G
 3 a0001c0001t0020g0167
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0001t0020g0167
a0001c0003t0020g0014
a0001c0003t0020g0015
 3 HG01891.hp1
HG03453.hp2
NA19240.hp2
HG01891.hp1
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.970-9541A>G
c.970-9541A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293437
chr1:2293462 G
G
 A
A
 3 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0035
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0035
 3 NA18946.hp2
NA19007.hp1
NA19057.hp1
NA18946.hp2
NA19007.hp1
NA19057.hp1
 intron_variant MODIFIER c.970-9516G>A
c.970-9516G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293462
chr1:2293701 G
G
 A
A
 1 a0001c0001t0015g0236
a0001c0001t0015g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.970-9277G>A
c.970-9277G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293701
chr1:2293703 T
T
 C
C
 12 a0001c0001t0001g0033
a0001c0001t0001g0141
a0001c0001t0003g0158
others(9): Show 
a0001c0001t0001g0033
a0001c0001t0001g0141
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0273
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0017g0272
a0001c0001t0025g0122
a0001c0001t0054g0159
a0001c0007t0078g0269
 12 HG01928.hp2
HG01952.hp2
HG01978.hp2
others(9): Show 
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02027.hp2
NA18946.hp1
NA18961.hp2
NA18964.hp2
NA18977.hp1
NA19007.hp2
NA19057.hp2
NA19067.hp2
NA19074.hp1
 intron_variant MODIFIER c.970-9275T>C
c.970-9275T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293703
chr1:2293719 T
T
 A
A
 87 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(84): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0010g0092
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0001c0014t0001g0174
a0002c0002t0002g0002
 88 HG00099.hp1
HG00609.hp2
HG00621.hp2
others(85): Show 
HG00099.hp1
HG00609.hp2
HG00621.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01517.hp1
HG01884.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02572.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03239.hp1
HG03491.hp1
HG03516.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19090.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.970-9259T>A
c.970-9259T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293719
chr1:2293724 G
G
 A
A
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.970-9254G>A
c.970-9254G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293724
chr1:2293797 C
C
 T
T
 2 a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0228
a0001c0001t0005g0232
 2 HG01099.hp2
NA20752.hp1
HG01099.hp2
NA20752.hp1
 intron_variant MODIFIER c.970-9181C>T
c.970-9181C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293797
chr1:2293812 C
C
 T
T
 55 a0001c0001t0001g0001
a0001c0001t0001g0132
a0001c0001t0002g0072
others(52): Show 
a0001c0001t0001g0001
a0001c0001t0001g0132
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0197
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0008g0140
a0001c0001t0009g0307
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0014g0051
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0068g0145
a0001c0001t0070g0074
a0001c0001t0079g0128
a0001c0001t0081g0083
a0001c0001t0083g0231
a0001c0001t0085g0263
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 56 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(53): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00621.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02145.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02818.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03579.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp2
NA18995.hp1
NA19002.hp1
NA19011.hp2
NA19012.hp1
NA19063.hp2
NA19066.hp2
NA19074.hp2
NA19082.hp1
NA19088.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-9166C>T
c.970-9166C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293812
chr1:2293825 C
C
 T
T
 2 a0001c0001t0001g0152
a0001c0001t0079g0128
a0001c0001t0001g0152
a0001c0001t0079g0128
 2 NA18940.hp1
NA18950.hp2
NA18940.hp1
NA18950.hp2
 intron_variant MODIFIER c.970-9153C>T
c.970-9153C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293825
chr1:2293826 G
G
 A
A
 2 a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0046g0057
a0001c0001t0047g0293
 2 HG03579.hp1
HG06807.hp2
HG03579.hp1
HG06807.hp2
 intron_variant MODIFIER c.970-9152G>A
c.970-9152G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293826
chr1:2293845 G
G
 A
A
 214 a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
others(211): Show 
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0129
a0001c0001t0002g0222
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0177
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0058g0297
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
 216 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(213): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-9133G>A
c.970-9133G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293845
chr1:2293896 T
T
 G
G
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-9082T>G
c.970-9082T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293896
chr1:2293973 T
T
 C
C
 31 a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
others(28): Show 
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0224
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0057g0288
a0001c0001t0059g0244
a0001c0001t0070g0074
a0001c0001t0085g0263
a0001c0012t0011g0266
a0002c0002t0043g0182
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 32 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(29): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00738.hp1
HG01074.hp2
HG01109.hp1
HG01515.hp1
HG02015.hp2
HG02071.hp2
HG02074.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03579.hp2
HG03654.hp2
HG03834.hp2
NA18983.hp2
NA19011.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19088.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.970-9005T>C
c.970-9005T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2293973
chr1:2294052 T
T
 C
C
 1 a0001c0005t0003g0137
a0001c0005t0003g0137
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-8926T>C
c.970-8926T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294052
chr1:2294058 A
A
 C
C
 5 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(2): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0033g0073
a0001c0001t0034g0190
 5 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(2): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.970-8920A>C
c.970-8920A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294058
chr1:2294087 C
C
 T
T
 1 a0001c0001t0013g0060
a0001c0001t0013g0060
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.970-8891C>T
c.970-8891C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294087
chr1:2294211 G
G
 A
A
 4 a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0021g0316
others(1): Show 
a0001c0001t0002g0106
a0001c0001t0002g0326
a0001c0001t0021g0316
a0001c0001t0026g0295
 4 HG02622.hp1
HG02647.hp1
HG02717.hp1
others(1): Show 
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-8767G>A
c.970-8767G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294211
chr1:2294284 A
A
 G
G
 1 a0001c0001t0003g0273
a0001c0001t0003g0273
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.970-8694A>G
c.970-8694A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294284
chr1:2294438 C
C
 T
T
 1 a0001c0001t0004g0325
a0001c0001t0004g0325
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.970-8540C>T
c.970-8540C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294438
chr1:2294506 C
C
 A
A
 3 a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0067g0097
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0067g0097
 3 HG02886.hp2
HG03516.hp2
NA19030.hp1
HG02886.hp2
HG03516.hp2
NA19030.hp1
 intron_variant MODIFIER c.970-8472C>A
c.970-8472C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294506
chr1:2294509 C
C
 T
T
 1 a0001c0001t0014g0144
a0001c0001t0014g0144
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.970-8469C>T
c.970-8469C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294509
chr1:2294594 C
C
 T
T
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-8384C>T
c.970-8384C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294594
chr1:2294670 G
G
 A
A
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.970-8308G>A
c.970-8308G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294670
chr1:2294679 T
T
 G
G
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-8299T>G
c.970-8299T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294679
chr1:2294680 C
C
 T
T
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-8298C>T
c.970-8298C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294680
chr1:2294720 C
C
 T
T
 4 a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
others(1): Show 
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
 4 HG01081.hp2
HG01256.hp2
HG03239.hp1
others(1): Show 
HG01081.hp2
HG01256.hp2
HG03239.hp1
HG03491.hp1
 intron_variant MODIFIER c.970-8258C>T
c.970-8258C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294720
chr1:2294891 G
G
 T
T
 1 a0001c0001t0017g0272
a0001c0001t0017g0272
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.970-8087G>T
c.970-8087G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294891
chr1:2294894 T
T
 A
A
 294 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(291): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 297 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(294): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-8084T>A
c.970-8084T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294894
chr1:2294912 C
C
 T
T
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-8066C>T
c.970-8066C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2294912
chr1:2295062 G
G
 A
A
 1 a0001c0001t0046g0057
a0001c0001t0046g0057
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.970-7916G>A
c.970-7916G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295062
chr1:2295076 C
C
 T
T
 1 a0001c0001t0018g0028
a0001c0001t0018g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.970-7902C>T
c.970-7902C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295076
chr1:2295214 G
G
 T
T
 1 a0001c0001t0002g0320
a0001c0001t0002g0320
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.970-7764G>T
c.970-7764G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295214
chr1:2295526 A
A
 C
C
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-7452A>C
c.970-7452A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295526
chr1:2295527 C
C
 A
A
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-7451C>A
c.970-7451C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295527
chr1:2295668 C
C
 T
T
 1 a0001c0001t0021g0316
a0001c0001t0021g0316
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.970-7310C>T
c.970-7310C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295668
chr1:2295701 T
T
 A
A
 1 a0001c0014t0001g0174
a0001c0014t0001g0174
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.970-7277T>A
c.970-7277T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295701
chr1:2295704 GGGCCACG
others(16): Show 
GGGCCACGTGTGGCTATGTGTCCA
 G
G
 135 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(132): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0129
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0209
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0010t0048g0052
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 137 HG00438.hp1
HG00609.hp1
HG00642.hp1
others(134): Show 
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18971.hp2
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-7262_970-7240d
others(25): Show 
c.970-7262_970-7240delGCTATGTGTCCAGGCCACGTGTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2295704
chr1:2295727 A
A
 G
G
 159 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(156): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0068g0145
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0011t0039g0071
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 160 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-7251A>G
c.970-7251A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295727
chr1:2295734 G
G
 A
A
 2 a0001c0001t0002g0077
a0001c0001t0070g0074
a0001c0001t0002g0077
a0001c0001t0070g0074
 2 HG02559.hp2
HG03139.hp2
HG02559.hp2
HG03139.hp2
 intron_variant MODIFIER c.970-7244G>A
c.970-7244G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295734
chr1:2295797 C
C
 A
A
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-7181C>A
c.970-7181C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295797
chr1:2295932 C
C
 T
T
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.970-7046C>T
c.970-7046C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295932
chr1:2295983 C
C
 T
T
 138 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0129
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0209
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 140 HG00438.hp1
HG00609.hp1
HG00642.hp1
others(137): Show 
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18971.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-6995C>T
c.970-6995C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2295983
chr1:2296110 C
C
 T
T
 1 a0001c0001t0076g0113
a0001c0001t0076g0113
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.970-6868C>T
c.970-6868C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296110
chr1:2296225 C
C
 CA
CA
 6 a0001c0001t0003g0213
a0001c0001t0004g0218
a0001c0001t0080g0043
others(3): Show 
a0001c0001t0003g0213
a0001c0001t0004g0218
a0001c0001t0080g0043
a0001c0001t0083g0231
a0001c0001t0087g0168
a0001c0010t0048g0052
 6 HG01081.hp2
HG02572.hp2
HG02976.hp1
others(3): Show 
HG01081.hp2
HG02572.hp2
HG02976.hp1
HG04184.hp1
NA19090.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-6740dupA
c.970-6740dupA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2296225
chr1:2296236 A
A
 C
C
 15 a0001c0001t0001g0004
a0001c0001t0001g0195
a0001c0001t0003g0209
others(12): Show 
a0001c0001t0001g0004
a0001c0001t0001g0195
a0001c0001t0003g0209
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0012g0067
a0001c0001t0012g0160
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0038g0212
a0001c0001t0075g0023
a0001c0001t0076g0113
 15 HG00438.hp1
HG00673.hp2
HG00735.hp1
others(12): Show 
HG00438.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01261.hp2
HG01952.hp1
HG01978.hp1
HG02155.hp2
HG02300.hp2
HG03491.hp2
HG03492.hp1
HG04204.hp1
HG04204.hp2
NA18942.hp2
NA18947.hp2
 intron_variant MODIFIER c.970-6742A>C
c.970-6742A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296236
chr1:2296238 A
A
 C
C
 1 a0002c0002t0055g0183
a0002c0002t0055g0183
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.970-6740A>C
c.970-6740A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296238
chr1:2296268 G
G
 A
A
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.970-6710G>A
c.970-6710G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296268
chr1:2296416 C
C
 G
G
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-6562C>G
c.970-6562C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296416
chr1:2296453 C
C
 T
T
 5 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(2): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0033g0073
a0001c0001t0034g0190
 5 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(2): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.970-6525C>T
c.970-6525C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296453
chr1:2296515 T
T
 A
A
 1 a0001c0001t0004g0025
a0001c0001t0004g0025
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.970-6463T>A
c.970-6463T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296515
chr1:2296838 T
T
 C
C
 5 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(2): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0033g0073
a0001c0001t0034g0190
 5 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(2): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.970-6140T>C
c.970-6140T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296838
chr1:2296975 C
C
 T
T
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-6003C>T
c.970-6003C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2296975
chr1:2297023 T
T
 G
G
 1 a0001c0005t0003g0137
a0001c0005t0003g0137
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-5955T>G
c.970-5955T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297023
chr1:2297047 G
G
 A
A
 3 a0001c0001t0002g0256
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0002g0256
a0001c0001t0035g0261
a0001c0001t0036g0262
 3 HG00738.hp1
HG01123.hp2
HG02818.hp1
HG00738.hp1
HG01123.hp2
HG02818.hp1
 intron_variant MODIFIER c.970-5931G>A
c.970-5931G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297047
chr1:2297093 A
A
 T
T
 1 a0001c0001t0004g0260
a0001c0001t0004g0260
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-5885A>T
c.970-5885A>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297093
chr1:2297241 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.970-5737G>A
c.970-5737G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297241
chr1:2297264 G
G
 A
A
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.970-5714G>A
c.970-5714G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297264
chr1:2297267 G
G
 A
A
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-5711G>A
c.970-5711G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297267
chr1:2297346 C
C
 T
T
 1 a0001c0001t0076g0113
a0001c0001t0076g0113
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.970-5632C>T
c.970-5632C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297346
chr1:2297361 C
C
 T
T
 1 a0001c0001t0021g0250
a0001c0001t0021g0250
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.970-5617C>T
c.970-5617C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297361
chr1:2297400 C
C
 T
T
 2 a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0035g0261
a0001c0001t0036g0262
 2 HG01123.hp2
HG02818.hp1
HG01123.hp2
HG02818.hp1
 intron_variant MODIFIER c.970-5578C>T
c.970-5578C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297400
chr1:2297405 G
G
 A
A
 1 a0001c0001t0003g0143
a0001c0001t0003g0143
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.970-5573G>A
c.970-5573G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297405
chr1:2297674 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.970-5304C>T
c.970-5304C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297674
chr1:2297701 C
C
 T
T
 56 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0141
others(53): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0141
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0002c0002t0002g0002
 57 HG00609.hp2
HG00621.hp2
HG01081.hp2
others(54): Show 
HG00609.hp2
HG00621.hp2
HG01081.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02027.hp2
HG02071.hp2
HG02155.hp1
HG02165.hp1
HG02896.hp2
HG03239.hp1
HG03491.hp1
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19090.hp2
 intron_variant MODIFIER c.970-5277C>T
c.970-5277C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297701
chr1:2297717 C
C
 T
T
 29 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(26): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0070g0074
a0001c0001t0081g0083
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 29 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(26): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01261.hp2
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG03139.hp2
HG03491.hp2
HG03492.hp1
HG04199.hp2
NA18947.hp1
NA18948.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-5261C>T
c.970-5261C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297717
chr1:2297720 C
C
 T
T
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-5258C>T
c.970-5258C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297720
chr1:2297808 C
C
 T
T
 1 a0002c0004t0002g0186
a0002c0004t0002g0186
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.970-5170C>T
c.970-5170C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297808
chr1:2297862 C
C
 T
T
 39 a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
others(36): Show 
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0224
a0001c0001t0009g0296
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0014g0051
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0021g0250
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0008t0021g0252
a0001c0010t0048g0052
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 39 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(36): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01515.hp1
HG01884.hp2
HG02015.hp2
HG02074.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03490.hp1
HG03579.hp2
HG03654.hp2
HG06807.hp1
NA18906.hp1
NA18983.hp2
NA19011.hp2
NA19066.hp2
NA19074.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-5116C>T
c.970-5116C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297862
chr1:2297914 G
G
 A
A
 3 a0001c0001t0014g0051
a0001c0001t0087g0168
a0001c0010t0048g0052
a0001c0001t0014g0051
a0001c0001t0087g0168
a0001c0010t0048g0052
 3 HG01884.hp2
HG02572.hp2
HG02976.hp1
HG01884.hp2
HG02572.hp2
HG02976.hp1
 intron_variant MODIFIER c.970-5064G>A
c.970-5064G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297914
chr1:2297937 C
C
 G
G
 1 a0001c0001t0024g0169
a0001c0001t0024g0169
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.970-5041C>G
c.970-5041C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297937
chr1:2297948 G
G
 A
A
 18 a0001c0001t0001g0195
a0001c0001t0001g0271
a0001c0001t0001g0285
others(15): Show 
a0001c0001t0001g0195
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0004g0325
a0001c0001t0007g0061
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0012g0160
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0038g0212
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
 18 HG00438.hp1
HG00673.hp2
HG01952.hp1
others(15): Show 
HG00438.hp1
HG00673.hp2
HG01952.hp1
HG01978.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp2
HG02630.hp1
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG04204.hp1
HG04204.hp2
NA18942.hp2
NA18947.hp2
 intron_variant MODIFIER c.970-5030G>A
c.970-5030G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297948
chr1:2297977 C
C
 T
T
 2 a0001c0001t0005g0066
a0001c0001t0005g0225
a0001c0001t0005g0066
a0001c0001t0005g0225
 2 HG01346.hp2
HG01361.hp2
HG01346.hp2
HG01361.hp2
 intron_variant MODIFIER c.970-5001C>T
c.970-5001C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2297977
chr1:2298000 C
C
 T
T
 1 a0001c0005t0003g0137
a0001c0005t0003g0137
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.970-4978C>T
c.970-4978C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298000
chr1:2298008 A
A
 G
G
 292 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(289): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 295 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(292): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-4970A>G
c.970-4970A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298008
chr1:2298039 C
C
 T
T
 81 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(78): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0301
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0071g0024
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0007t0078g0269
a0002c0002t0002g0002
 82 HG00099.hp1
HG00609.hp2
HG00621.hp2
others(79): Show 
HG00099.hp1
HG00609.hp2
HG00621.hp2
HG01081.hp1
HG01081.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02735.hp2
HG02896.hp2
HG03017.hp1
HG03239.hp1
HG03491.hp1
HG03669.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.970-4939C>T
c.970-4939C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298039
chr1:2298114 C
C
 T
T
 291 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0140
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 294 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(291): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-4864C>T
c.970-4864C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298114
chr1:2298211 G
G
 C
C
 1 a0001c0011t0039g0071
a0001c0011t0039g0071
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.970-4767G>C
c.970-4767G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298211
chr1:2298353 G
G
 T
T
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-4625G>T
c.970-4625G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298353
chr1:2298396 G
G
 T
T
 5 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(2): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0033g0073
a0001c0001t0034g0190
 5 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(2): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.970-4582G>T
c.970-4582G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298396
chr1:2298478 C
C
 T
T
 29 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(26): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0008g0140
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0070g0074
a0001c0001t0081g0083
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 29 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(26): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01261.hp2
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG03139.hp2
HG03491.hp2
HG03492.hp1
HG04199.hp2
NA18947.hp1
NA18948.hp1
NA18967.hp2
NA18980.hp1
NA18982.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-4500C>T
c.970-4500C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298478
chr1:2298483 C
C
 A
A
 2 a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0064g0311
a0001c0001t0065g0312
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.970-4495C>A
c.970-4495C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298483
chr1:2298644 C
C
 T
T
 1 a0001c0001t0087g0168
a0001c0001t0087g0168
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.970-4334C>T
c.970-4334C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298644
chr1:2298708 G
G
 C
C
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-4270G>C
c.970-4270G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298708
chr1:2298905 C
C
 A
A
 2 a0001c0001t0003g0031
a0001c0001t0018g0149
a0001c0001t0003g0031
a0001c0001t0018g0149
 2 NA18959.hp2
NA19080.hp2
NA18959.hp2
NA19080.hp2
 intron_variant MODIFIER c.970-4073C>A
c.970-4073C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2298905
chr1:2299044 T
T
 G
G
 5 a0001c0001t0001g0146
a0001c0001t0001g0205
a0001c0001t0002g0318
others(2): Show 
a0001c0001t0001g0146
a0001c0001t0001g0205
a0001c0001t0002g0318
a0001c0001t0015g0136
a0001c0001t0023g0091
 5 HG03669.hp1
HG03834.hp1
HG03942.hp1
others(2): Show 
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG04204.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-3934T>G
c.970-3934T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299044
chr1:2299072 C
C
 A
A
 6 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(3): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0041g0306
a0002c0002t0011g0179
a0002c0002t0043g0182
 7 HG02630.hp2
HG02647.hp2
HG03139.hp1
others(4): Show 
HG02630.hp2
HG02647.hp2
HG03139.hp1
HG03486.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-3906C>A
c.970-3906C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299072
chr1:2299237 T
T
 C
C
 1 a0001c0001t0002g0326
a0001c0001t0002g0326
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.970-3741T>C
c.970-3741T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299237
chr1:2299253 A
A
 G
G
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-3725A>G
c.970-3725A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299253
chr1:2299253 AG
AG
 A
A
 258 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(255): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0107
a0001c0001t0008g0140
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0015t0002g0185
 261 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(258): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp2
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-3716delG
c.970-3716delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2299253
chr1:2299254 G
G
 A
A
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.970-3724G>A
c.970-3724G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299254
chr1:2299269 G
G
 A
A
 1 a0001c0001t0004g0006
a0001c0001t0004g0006
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.970-3709G>A
c.970-3709G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299269
chr1:2299327 G
G
 C
C
 2 a0001c0001t0002g0049
a0001c0001t0003g0063
a0001c0001t0002g0049
a0001c0001t0003g0063
 2 HG02165.hp1
NA18967.hp1
HG02165.hp1
NA18967.hp1
 intron_variant MODIFIER c.970-3651G>C
c.970-3651G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299327
chr1:2299360 T
T
 C
C
 104 a0001c0001t0001g0030
a0001c0001t0001g0313
a0001c0001t0001g0314
others(101): Show 
a0001c0001t0001g0030
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0123
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0326
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0237
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0017
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0151
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0007g0302
a0001c0001t0008g0041
a0001c0001t0008g0279
a0001c0001t0010g0092
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0194
a0001c0001t0013g0079
a0001c0001t0014g0051
a0001c0001t0015g0201
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0021g0316
a0001c0001t0024g0169
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0041g0306
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0051g0276
a0001c0001t0057g0288
a0001c0001t0068g0145
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0012t0011g0266
a0002c0002t0002g0002
a0002c0002t0011g0179
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 106 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(103): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp2
HG02071.hp2
HG02074.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18956.hp2
NA18959.hp2
NA18964.hp1
NA18967.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-3618T>C
c.970-3618T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299360
chr1:2299369 G
G
 A
A
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.970-3609G>A
c.970-3609G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299369
chr1:2299672 G
G
 C
C
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-3306G>C
c.970-3306G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299672
chr1:2299714 C
C
 T
T
 12 a0001c0001t0001g0078
a0001c0001t0001g0304
a0001c0001t0007g0098
others(9): Show 
a0001c0001t0001g0078
a0001c0001t0001g0304
a0001c0001t0007g0098
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0012g0258
a0001c0001t0022g0303
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0056g0315
a0001c0001t0062g0257
a0002c0002t0022g0181
 12 HG01243.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG01243.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG03209.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.970-3264C>T
c.970-3264C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299714
chr1:2299971 G
G
 T
T
 7 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(4): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0041g0306
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0043g0182
 8 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(5): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
HG03486.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.970-3007G>T
c.970-3007G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2299971
chr1:2300024 C
C
 T
T
 30 a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
others(27): Show 
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0021g0250
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0057g0288
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 31 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(28): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG02015.hp2
HG02074.hp1
HG02486.hp2
HG03017.hp2
HG03490.hp1
HG03579.hp2
HG03654.hp2
NA18946.hp1
NA18983.hp2
NA19011.hp2
NA19066.hp2
NA19074.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-2954C>T
c.970-2954C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300024
chr1:2300127 C
C
 T
T
 2 a0001c0001t0021g0316
a0001c0001t0047g0293
a0001c0001t0021g0316
a0001c0001t0047g0293
 2 HG02717.hp1
HG03579.hp1
HG02717.hp1
HG03579.hp1
 intron_variant MODIFIER c.970-2851C>T
c.970-2851C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300127
chr1:2300128 G
G
 T
T
 56 a0001c0001t0001g0004
a0001c0001t0002g0072
a0001c0001t0002g0075
others(53): Show 
a0001c0001t0001g0004
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0154
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0209
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0057g0288
a0001c0001t0079g0128
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0007t0078g0269
a0001c0008t0021g0252
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 57 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(54): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00544.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01891.hp2
HG02015.hp2
HG02027.hp1
HG02074.hp1
HG02165.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG03017.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG04199.hp2
NA18946.hp1
NA18947.hp1
NA18950.hp2
NA18967.hp2
NA18980.hp1
NA18983.hp2
NA18995.hp1
NA19002.hp1
NA19011.hp2
NA19063.hp2
NA19066.hp2
NA19074.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-2850G>T
c.970-2850G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300128
chr1:2300129 C
C
 CGTTGCCC
others(4): Show 
CGTTGCCCGGGT
 1 a0001c0001t0081g0083
a0001c0001t0081g0083
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.970-2847_970-2837d
others(13): Show 
c.970-2847_970-2837dupTTGCCCGGGTG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2300129
chr1:2300156 A
A
 C
C
 42 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(39): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0318
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0007g0108
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0023g0091
a0001c0001t0037g0012
a0001c0001t0042g0319
a0001c0001t0049g0087
a0001c0001t0053g0082
a0001c0001t0061g0138
a0001c0001t0079g0128
a0002c0004t0001g0187
a0002c0004t0001g0188
 43 HG01515.hp2
HG01517.hp2
HG01975.hp2
others(40): Show 
HG01515.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02071.hp1
HG02300.hp1
HG02698.hp1
HG03017.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18950.hp2
NA18956.hp1
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.970-2822A>C
c.970-2822A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300156
chr1:2300295 A
A
 G
G
 2 a0001c0001t0004g0260
a0001c0011t0039g0071
a0001c0001t0004g0260
a0001c0011t0039g0071
 2 HG02280.hp1
NA21309.hp1
HG02280.hp1
NA21309.hp1
 intron_variant MODIFIER c.970-2683A>G
c.970-2683A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300295
chr1:2300474 T
T
 C
C
 1 a0001c0001t0004g0006
a0001c0001t0004g0006
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.970-2504T>C
c.970-2504T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300474
chr1:2300486 C
C
 T
T
 1 a0001c0001t0008g0140
a0001c0001t0008g0140
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.970-2492C>T
c.970-2492C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300486
chr1:2300527 G
G
 C
C
 36 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(33): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 36 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(33): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03669.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19043.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-2451G>C
c.970-2451G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300527
chr1:2300803 A
A
 G
G
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-2175A>G
c.970-2175A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300803
chr1:2300855 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.970-2123G>A
c.970-2123G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300855
chr1:2300865 C
C
 T
T
 14 a0001c0001t0001g0240
a0001c0001t0002g0203
a0001c0001t0002g0301
others(11): Show 
a0001c0001t0001g0240
a0001c0001t0002g0203
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0082g0156
a0001c0005t0003g0137
 14 HG00609.hp2
HG01346.hp1
HG01981.hp2
others(11): Show 
HG00609.hp2
HG01346.hp1
HG01981.hp2
HG04184.hp2
NA18612.hp1
NA18954.hp2
NA18983.hp1
NA19007.hp2
NA19012.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19082.hp2
 intron_variant MODIFIER c.970-2113C>T
c.970-2113C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300865
chr1:2300899 C
C
 T
T
 2 a0001c0001t0009g0308
a0001c0001t0087g0168
a0001c0001t0009g0308
a0001c0001t0087g0168
 2 HG02976.hp1
HG03540.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.970-2079C>T
c.970-2079C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300899
chr1:2300965 G
G
 A
A
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.970-2013G>A
c.970-2013G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2300965
chr1:2301086 C
C
 T
T
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.970-1892C>T
c.970-1892C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301086
chr1:2301087 G
G
 T
T
 25 a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0001g0235
others(22): Show 
a0001c0001t0001g0125
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0003g0127
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0025
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0009g0296
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0037g0012
a0001c0001t0052g0007
a0001c0001t0058g0297
 25 HG00099.hp1
HG01081.hp1
HG01099.hp1
others(22): Show 
HG00099.hp1
HG01081.hp1
HG01099.hp1
HG01257.hp2
HG01517.hp1
HG02055.hp2
HG02109.hp1
HG02273.hp1
HG02559.hp1
HG02735.hp2
HG04115.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp1
NA18954.hp1
NA18962.hp1
NA18982.hp2
NA18990.hp2
NA19000.hp2
NA19063.hp1
NA19064.hp1
NA19068.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-1891G>T
c.970-1891G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301087
chr1:2301093 G
G
 A
A
 80 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(77): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0301
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0006g0131
a0001c0001t0006g0150
a0001c0001t0007g0133
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0037g0012
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0077g0011
a0001c0001t0082g0156
a0001c0005t0003g0137
 80 HG00099.hp1
HG00609.hp2
HG01081.hp1
others(77): Show 
HG00099.hp1
HG00609.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01256.hp2
HG01257.hp2
HG01346.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02559.hp1
HG02735.hp2
HG02896.hp2
HG03239.hp1
HG03491.hp1
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.970-1885G>A
c.970-1885G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301093
chr1:2301098 A
A
 G
G
 2 a0001c0001t0009g0296
a0001c0001t0058g0297
a0001c0001t0009g0296
a0001c0001t0058g0297
 2 HG01099.hp1
HG02559.hp1
HG01099.hp1
HG02559.hp1
 intron_variant MODIFIER c.970-1880A>G
c.970-1880A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301098
chr1:2301225 T
T
 C
C
 2 a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0035g0261
a0001c0001t0036g0262
 2 HG01123.hp2
HG02818.hp1
HG01123.hp2
HG02818.hp1
 intron_variant MODIFIER c.970-1753T>C
c.970-1753T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301225
chr1:2301237 C
C
 T
T
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.970-1741C>T
c.970-1741C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301237
chr1:2301261 C
C
 T
T
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.970-1717C>T
c.970-1717C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301261
chr1:2301582 T
T
 C
C
 6 a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
others(3): Show 
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
 6 HG02630.hp1
HG02886.hp1
HG03130.hp2
others(3): Show 
HG02630.hp1
HG02886.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
 intron_variant MODIFIER c.970-1396T>C
c.970-1396T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301582
chr1:2301669 TGATGCAG
others(12): Show 
TGATGCAGCGTCTTCTCCTA
 T
T
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.970-1306_970-1288d
others(21): Show 
c.970-1306_970-1288delTGCAGCGTCTTCTCCTAGA
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2301669
chr1:2301873 A
A
 G
G
 295 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(292): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 298 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(295): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-1105A>G
c.970-1105A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2301873
chr1:2302000 T
T
 A
A
 1 a0001c0001t0002g0322
a0001c0001t0002g0322
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.970-978T>A
c.970-978T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302000
chr1:2302005 T
T
 A
A
 1 a0001c0001t0004g0230
a0001c0001t0004g0230
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.970-973T>A
c.970-973T>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302005
chr1:2302063 G
G
 A
A
 1 a0001c0001t0004g0008
a0001c0001t0004g0008
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.970-915G>A
c.970-915G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302063
chr1:2302064 A
A
 G
G
 1 a0001c0001t0004g0008
a0001c0001t0004g0008
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.970-914A>G
c.970-914A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302064
chr1:2302142 G
G
 A
A
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.970-836G>A
c.970-836G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302142
chr1:2302259 T
T
 C
C
 1 a0001c0001t0004g0115
a0001c0001t0004g0115
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.970-719T>C
c.970-719T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302259
chr1:2302446 C
C
 T
T
 1 a0001c0001t0035g0261
a0001c0001t0035g0261
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.970-532C>T
c.970-532C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302446
chr1:2302462 C
C
 T
T
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.970-516C>T
c.970-516C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302462
chr1:2302522 G
G
 A
A
 34 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(31): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 34 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(31): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03669.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19043.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.970-456G>A
c.970-456G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302522
chr1:2302601 CAGG
CAGG
 C
C
 26 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(23): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 26 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(23): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04199.hp2
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.970-374_970-372del
others(3): Show 
c.970-374_970-372delGAG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 INFO_REALIGN_3_PRIME chr1 2302601
chr1:2302812 A
A
 G
G
 286 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(283): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0031g0321
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 289 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.970-166A>G
c.970-166A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 1/6 chr1 2302812
chr1:2303193 G
G
 A
A
 30 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(27): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0022
a0001c0001t0003g0044
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0116
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0007g0133
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 30 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(27): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04199.hp2
NA18947.hp1
NA18967.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1095+90G>A
c.1095+90G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 2/6 chr1 2303193
chr1:2303246 T
T
 C
C
 1 a0001c0001t0047g0293
a0001c0001t0047g0293
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1096-39T>C
c.1096-39T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 2/6 chr1 2303246
chr1:2303410 C
C
 G
G
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1211+10C>G
c.1211+10C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303410
chr1:2303411 G
G
 A
A
 6 a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
others(3): Show 
a0001c0001t0001g0271
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
 6 HG02630.hp1
HG02886.hp1
HG03130.hp2
others(3): Show 
HG02630.hp1
HG02886.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
 intron_variant MODIFIER c.1211+11G>A
c.1211+11G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303411
chr1:2303435 CG
CG
 C
C
 4 a0001c0001t0002g0326
a0001c0001t0026g0050
a0001c0001t0026g0295
others(1): Show 
a0001c0001t0002g0326
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0068g0145
 4 HG02145.hp2
HG02622.hp1
HG03130.hp1
others(1): Show 
HG02145.hp2
HG02622.hp1
HG03130.hp1
NA19030.hp2
 intron_variant MODIFIER c.1211+40delG
c.1211+40delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 INFO_REALIGN_3_PRIME chr1 2303435
chr1:2303464 C
C
 T
T
 99 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(96): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0002g0027
a0001c0001t0002g0318
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0151
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0002c0002t0022g0181
a0002c0004t0001g0187
a0002c0004t0001g0188
 100 HG00438.hp1
HG00609.hp1
HG00673.hp1
others(97): Show 
HG00438.hp1
HG00609.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02071.hp1
HG02109.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.1211+64C>T
c.1211+64C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303464
chr1:2303470 C
C
 T
T
 4 a0001c0001t0001g0026
a0001c0001t0001g0110
a0001c0001t0001g0254
others(1): Show 
a0001c0001t0001g0026
a0001c0001t0001g0110
a0001c0001t0001g0254
a0001c0001t0001g0255
 4 HG01975.hp2
HG01981.hp1
HG01993.hp1
others(1): Show 
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp2
 intron_variant MODIFIER c.1211+70C>T
c.1211+70C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303470
chr1:2303556 G
G
 A
A
 2 a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0064g0311
a0001c0001t0065g0312
 2 HG03704.hp1
HG03942.hp2
HG03704.hp1
HG03942.hp2
 intron_variant MODIFIER c.1211+156G>A
c.1211+156G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303556
chr1:2303573 C
C
 T
T
 2 a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0035g0261
a0001c0001t0036g0262
 2 HG01123.hp2
HG02818.hp1
HG01123.hp2
HG02818.hp1
 intron_variant MODIFIER c.1211+173C>T
c.1211+173C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303573
chr1:2303580 T
T
 C
C
 37 a0001c0001t0001g0004
a0001c0001t0001g0323
a0001c0001t0002g0077
others(34): Show 
a0001c0001t0001g0004
a0001c0001t0001g0323
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0005g0225
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0014g0051
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0021g0250
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0086g0286
a0001c0001t0088g0120
a0001c0008t0021g0252
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 37 HG00621.hp1
HG00733.hp1
HG00735.hp1
others(34): Show 
HG00621.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp2
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG02818.hp1
HG03017.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04199.hp2
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19065.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1211+180T>C
c.1211+180T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303580
chr1:2303635 T
T
 C
C
 1 a0001c0001t0052g0007
a0001c0001t0052g0007
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1212-205T>C
c.1212-205T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303635
chr1:2303658 C
C
 T
T
 1 a0001c0001t0063g0259
a0001c0001t0063g0259
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1212-182C>T
c.1212-182C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303658
chr1:2303774 G
G
 A
A
 1 a0001c0010t0048g0052
a0001c0010t0048g0052
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1212-66G>A
c.1212-66G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 chr1 2303774
chr1:2303787 TG
TG
 T
T
 8 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(5): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
 8 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(5): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.1212-50delG
c.1212-50delG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 3/6 INFO_REALIGN_3_PRIME chr1 2303787
chr1:2304162 AGGGGGGC
others(10): Show 
AGGGGGGCTGGTCGCCGG
 A
A
 1 a0001c0001t0042g0319
a0001c0001t0042g0319
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1474+64_1474+80del
others(17): Show 
c.1474+64_1474+80delGGGCTGGTCGCCGGGGG
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/6 INFO_REALIGN_3_PRIME chr1 2304162
chr1:2304212 C
C
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1475-81C>T
c.1475-81C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/6 chr1 2304212
chr1:2304217 G
G
 A
A
 25 a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
others(22): Show 
a0001c0001t0001g0004
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 25 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(22): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02559.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04199.hp2
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1475-76G>A
c.1475-76G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/6 chr1 2304217
chr1:2304223 G
G
 A
A
 106 a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
others(103): Show 
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0318
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0002c0002t0022g0181
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 106 HG00438.hp1
HG00609.hp1
HG00642.hp1
others(103): Show 
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.1475-70G>A
c.1475-70G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/6 chr1 2304223
chr1:2304233 C
C
 T
T
 121 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
others(118): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0318
a0001c0001t0002g0326
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0219
a0001c0001t0004g0260
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0007g0061
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0155
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0020g0167
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0053g0082
a0001c0001t0056g0315
a0001c0001t0059g0244
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0006t0040g0053
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
 123 HG00438.hp1
HG00609.hp1
HG00642.hp1
others(120): Show 
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG01099.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02071.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18956.hp1
NA18961.hp1
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19002.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1475-60C>T
c.1475-60C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 4/6 chr1 2304233
chr1:2304622 C
C
 T
T
 2 a0001c0001t0011g0003
a0001c0001t0041g0306
a0001c0001t0011g0003
a0001c0001t0041g0306
 3 HG03486.hp2
NA19043.hp2
NA20129.hp1
HG03486.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1767+37C>T
c.1767+37C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304622
chr1:2304695 G
G
 A
A
 4 a0001c0001t0009g0307
a0001c0001t0020g0167
a0001c0003t0020g0014
others(1): Show 
a0001c0001t0009g0307
a0001c0001t0020g0167
a0001c0003t0020g0014
a0001c0003t0020g0015
 4 HG01891.hp1
HG03098.hp1
HG03453.hp2
others(1): Show 
HG01891.hp1
HG03098.hp1
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.1767+110G>A
c.1767+110G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304695
chr1:2304741 G
G
 T
T
 1 a0001c0001t0006g0324
a0001c0001t0006g0324
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.1767+156G>T
c.1767+156G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304741
chr1:2304880 A
A
 G
G
 1 a0001c0001t0079g0128
a0001c0001t0079g0128
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1767+295A>G
c.1767+295A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304880
chr1:2304900 T
T
 C
C
 40 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0002g0077
others(37): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0002g0077
a0001c0001t0002g0101
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0004g0118
a0001c0001t0004g0260
a0001c0001t0006g0142
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0012g0067
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
 40 HG00621.hp1
HG00735.hp1
HG00738.hp2
others(37): Show 
HG00621.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01243.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03669.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19043.hp1
NA19063.hp2
NA19082.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1767+315T>C
c.1767+315T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304900
chr1:2304920 G
G
 A
A
 85 a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
others(82): Show 
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0125
a0001c0001t0001g0141
a0001c0001t0001g0165
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0129
a0001c0001t0002g0203
a0001c0001t0002g0301
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0275
a0001c0001t0008g0279
a0001c0001t0009g0296
a0001c0001t0010g0096
a0001c0001t0013g0079
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0149
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0054g0159
a0001c0001t0058g0297
a0001c0001t0076g0113
a0001c0001t0082g0156
a0001c0001t0087g0168
a0001c0005t0003g0137
a0001c0009t0004g0064
 85 HG00099.hp1
HG00609.hp2
HG00673.hp2
others(82): Show 
HG00099.hp1
HG00609.hp2
HG00673.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01256.hp2
HG01257.hp2
HG01346.hp1
HG01517.hp1
HG01928.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp2
HG02273.hp1
HG02559.hp1
HG02735.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03688.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19091.hp2
 intron_variant MODIFIER c.1767+335G>A
c.1767+335G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304920
chr1:2304964 G
G
 A
A
 1 a0002c0004t0001g0187
a0002c0004t0001g0187
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1767+379G>A
c.1767+379G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2304964
chr1:2305091 C
C
 T
T
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1767+506C>T
c.1767+506C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305091
chr1:2305175 C
C
 T
T
 1 a0001c0001t0006g0300
a0001c0001t0006g0300
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1767+590C>T
c.1767+590C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305175
chr1:2305253 A
A
 G
G
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1767+668A>G
c.1767+668A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305253
chr1:2305258 A
A
 G
G
 295 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(292): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0007t0078g0269
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 298 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(295): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1767+673A>G
c.1767+673A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305258
chr1:2305263 G
G
 A
A
 8 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(5): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
 8 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(5): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.1767+678G>A
c.1767+678G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305263
chr1:2305319 G
G
 C
C
 322 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
others(319): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0010
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0195
a0001c0001t0001g0205
a0001c0001t0001g0235
a0001c0001t0001g0240
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0271
a0001c0001t0001g0278
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0299
a0001c0001t0001g0304
a0001c0001t0001g0313
a0001c0001t0001g0314
a0001c0001t0001g0323
a0001c0001t0002g0027
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0049
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0109
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0154
a0001c0001t0002g0203
a0001c0001t0002g0222
a0001c0001t0002g0242
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0277
a0001c0001t0002g0301
a0001c0001t0002g0318
a0001c0001t0002g0320
a0001c0001t0002g0322
a0001c0001t0002g0326
a0001c0001t0003g0019
a0001c0001t0003g0022
a0001c0001t0003g0031
a0001c0001t0003g0032
a0001c0001t0003g0039
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0063
a0001c0001t0003g0116
a0001c0001t0003g0117
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0158
a0001c0001t0003g0163
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0204
a0001c0001t0003g0209
a0001c0001t0003g0213
a0001c0001t0003g0214
a0001c0001t0003g0217
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0237
a0001c0001t0003g0241
a0001c0001t0003g0243
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0003g0270
a0001c0001t0003g0273
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0290
a0001c0001t0003g0291
a0001c0001t0004g0006
a0001c0001t0004g0008
a0001c0001t0004g0009
a0001c0001t0004g0013
a0001c0001t0004g0017
a0001c0001t0004g0025
a0001c0001t0004g0034
a0001c0001t0004g0037
a0001c0001t0004g0040
a0001c0001t0004g0090
a0001c0001t0004g0114
a0001c0001t0004g0115
a0001c0001t0004g0118
a0001c0001t0004g0134
a0001c0001t0004g0151
a0001c0001t0004g0218
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0004g0248
a0001c0001t0004g0260
a0001c0001t0004g0275
a0001c0001t0004g0325
a0001c0001t0005g0066
a0001c0001t0005g0089
a0001c0001t0005g0153
a0001c0001t0005g0157
a0001c0001t0005g0161
a0001c0001t0005g0198
a0001c0001t0005g0199
a0001c0001t0005g0206
a0001c0001t0005g0207
a0001c0001t0005g0221
a0001c0001t0005g0225
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0005g0232
a0001c0001t0005g0253
a0001c0001t0005g0268
a0001c0001t0006g0065
a0001c0001t0006g0131
a0001c0001t0006g0142
a0001c0001t0006g0150
a0001c0001t0006g0211
a0001c0001t0006g0226
a0001c0001t0006g0300
a0001c0001t0006g0310
a0001c0001t0006g0324
a0001c0001t0007g0004
a0001c0001t0007g0061
a0001c0001t0007g0086
a0001c0001t0007g0098
a0001c0001t0007g0108
a0001c0001t0007g0133
a0001c0001t0007g0162
a0001c0001t0007g0281
a0001c0001t0007g0302
a0001c0001t0007g0305
a0001c0001t0008g0041
a0001c0001t0008g0042
a0001c0001t0008g0107
a0001c0001t0008g0111
a0001c0001t0008g0140
a0001c0001t0008g0193
a0001c0001t0008g0196
a0001c0001t0008g0202
a0001c0001t0008g0210
a0001c0001t0008g0239
a0001c0001t0008g0279
a0001c0001t0009g0095
a0001c0001t0009g0099
a0001c0001t0009g0100
a0001c0001t0009g0103
a0001c0001t0009g0296
a0001c0001t0009g0307
a0001c0001t0009g0308
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0010g0092
a0001c0001t0010g0096
a0001c0001t0010g0164
a0001c0001t0010g0208
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0012g0155
a0001c0001t0012g0160
a0001c0001t0012g0194
a0001c0001t0012g0215
a0001c0001t0012g0258
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0079
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0014g0051
a0001c0001t0014g0070
a0001c0001t0014g0144
a0001c0001t0014g0229
a0001c0001t0015g0126
a0001c0001t0015g0136
a0001c0001t0015g0201
a0001c0001t0015g0236
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0017g0068
a0001c0001t0017g0272
a0001c0001t0017g0287
a0001c0001t0018g0028
a0001c0001t0018g0147
a0001c0001t0018g0149
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0020g0167
a0001c0001t0021g0250
a0001c0001t0021g0316
a0001c0001t0022g0303
a0001c0001t0023g0091
a0001c0001t0023g0139
a0001c0001t0024g0005
a0001c0001t0024g0169
a0001c0001t0025g0122
a0001c0001t0025g0238
a0001c0001t0026g0050
a0001c0001t0026g0295
a0001c0001t0027g0245
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0031g0321
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0037g0012
a0001c0001t0038g0212
a0001c0001t0041g0306
a0001c0001t0042g0319
a0001c0001t0044g0292
a0001c0001t0045g0294
a0001c0001t0046g0057
a0001c0001t0047g0293
a0001c0001t0049g0087
a0001c0001t0050g0309
a0001c0001t0051g0276
a0001c0001t0052g0007
a0001c0001t0053g0082
a0001c0001t0054g0159
a0001c0001t0056g0315
a0001c0001t0057g0288
a0001c0001t0058g0297
a0001c0001t0059g0244
a0001c0001t0060g0058
a0001c0001t0061g0138
a0001c0001t0062g0257
a0001c0001t0063g0259
a0001c0001t0064g0311
a0001c0001t0065g0312
a0001c0001t0067g0097
a0001c0001t0068g0145
a0001c0001t0069g0104
a0001c0001t0070g0074
a0001c0001t0071g0024
a0001c0001t0072g0200
a0001c0001t0073g0216
a0001c0001t0074g0192
a0001c0001t0075g0023
a0001c0001t0076g0113
a0001c0001t0077g0011
a0001c0001t0079g0128
a0001c0001t0080g0043
a0001c0001t0081g0083
a0001c0001t0082g0156
a0001c0001t0083g0231
a0001c0001t0084g0112
a0001c0001t0085g0263
a0001c0001t0086g0286
a0001c0001t0087g0168
a0001c0001t0088g0120
a0001c0003t0001g0170
a0001c0003t0001g0172
a0001c0003t0001g0175
a0001c0003t0007g0171
a0001c0003t0009g0173
a0001c0003t0020g0014
a0001c0003t0020g0015
a0001c0005t0003g0137
a0001c0006t0040g0053
a0001c0008t0021g0252
a0001c0009t0004g0064
a0001c0010t0048g0052
a0001c0011t0039g0071
a0001c0012t0011g0266
a0001c0014t0001g0174
a0002c0002t0002g0002
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0022g0181
a0002c0002t0043g0182
a0002c0002t0055g0183
a0002c0004t0001g0187
a0002c0004t0001g0188
a0002c0004t0002g0186
a0002c0015t0002g0185
a0003c0013t0032g0178
 325 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(322): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1768-701G>C
c.1768-701G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305319
chr1:2305321 G
G
 C
C
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1768-699G>C
c.1768-699G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305321
chr1:2305455 G
G
 GC
GC
 8 a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
others(5): Show 
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
 8 HG02723.hp2
HG02922.hp2
HG03098.hp2
others(5): Show 
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.1768-561dupC
c.1768-561dupC
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 INFO_REALIGN_3_PRIME chr1 2305455
chr1:2305481 G
G
 C
C
 7 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(4): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0041g0306
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0043g0182
 8 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(5): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
HG03486.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1768-539G>C
c.1768-539G>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305481
chr1:2305581 T
T
 G
G
 7 a0001c0001t0001g0304
a0001c0001t0007g0098
a0001c0001t0007g0305
others(4): Show 
a0001c0001t0001g0304
a0001c0001t0007g0098
a0001c0001t0007g0305
a0001c0001t0012g0258
a0001c0001t0022g0303
a0001c0001t0045g0294
a0002c0002t0022g0181
 7 HG02809.hp1
HG03209.hp2
HG03540.hp1
others(4): Show 
HG02809.hp1
HG03209.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1768-439T>G
c.1768-439T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305581
chr1:2305713 T
T
 G
G
 13 a0001c0001t0002g0077
a0001c0001t0016g0267
a0001c0001t0016g0298
others(10): Show 
a0001c0001t0002g0077
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0002c0002t0002g0180
a0002c0002t0002g0184
 13 HG01123.hp2
HG01243.hp1
HG01891.hp2
others(10): Show 
HG01123.hp2
HG01243.hp1
HG01891.hp2
HG02559.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.1768-307T>G
c.1768-307T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305713
chr1:2305809 A
A
 G
G
 54 a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0205
others(51): Show 
a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0205
a0001c0001t0002g0077
a0001c0001t0002g0109
a0001c0001t0002g0124
a0001c0001t0002g0242
a0001c0001t0003g0046
a0001c0001t0003g0062
a0001c0001t0003g0117
a0001c0001t0003g0130
a0001c0001t0003g0143
a0001c0001t0003g0234
a0001c0001t0003g0246
a0001c0001t0003g0251
a0001c0001t0006g0142
a0001c0001t0006g0300
a0001c0001t0007g0004
a0001c0001t0007g0086
a0001c0001t0010g0047
a0001c0001t0010g0048
a0001c0001t0010g0085
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0012g0067
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0013g0069
a0001c0001t0013g0176
a0001c0001t0013g0177
a0001c0001t0016g0267
a0001c0001t0016g0298
a0001c0001t0016g0317
a0001c0001t0018g0147
a0001c0001t0019g0223
a0001c0001t0019g0233
a0001c0001t0019g0249
a0001c0001t0023g0091
a0001c0001t0028g0055
a0001c0001t0029g0056
a0001c0001t0030g0054
a0001c0001t0033g0073
a0001c0001t0034g0190
a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0041g0306
a0001c0001t0060g0058
a0001c0012t0011g0266
a0002c0002t0002g0180
a0002c0002t0002g0184
a0002c0002t0002g0189
a0002c0002t0011g0179
a0002c0002t0043g0182
 55 HG00621.hp1
HG00735.hp1
HG00735.hp2
others(52): Show 
HG00621.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01261.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18967.hp2
NA18980.hp1
NA18995.hp1
NA19002.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19081.hp1
NA19082.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1768-211A>G
c.1768-211A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305809
chr1:2305936 G
G
 A
A
 1 a0001c0001t0006g0142
a0001c0001t0006g0142
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1768-84G>A
c.1768-84G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 5/6 chr1 2305936
chr1:2306291 G
G
 T
T
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1998+41G>T
c.1998+41G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306291
chr1:2306313 T
T
 C
C
 1 a0001c0001t0085g0263
a0001c0001t0085g0263
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1998+63T>C
c.1998+63T>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306313
chr1:2306313 T
T
 G
G
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1998+63T>G
c.1998+63T>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306313
chr1:2306314 G
G
 T
T
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1998+64G>T
c.1998+64G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306314
chr1:2306325 C
C
 A
A
 1 a0001c0007t0078g0269
a0001c0007t0078g0269
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1998+75C>A
c.1998+75C>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306325
chr1:2306331 C
C
 T
T
 1 a0001c0001t0026g0295
a0001c0001t0026g0295
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1998+81C>T
c.1998+81C>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306331
chr1:2306389 A
A
 C
C
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1998+139A>C
c.1998+139A>C
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306389
chr1:2306390 C
C
 G
G
 1 a0001c0001t0003g0045
a0001c0001t0003g0045
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1998+140C>G
c.1998+140C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306390
chr1:2306424 C
C
 G
G
 7 a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
others(4): Show 
a0001c0001t0011g0003
a0001c0001t0011g0264
a0001c0001t0011g0265
a0001c0001t0041g0306
a0001c0012t0011g0266
a0002c0002t0011g0179
a0002c0002t0043g0182
 8 HG02630.hp2
HG02647.hp2
HG02976.hp2
others(5): Show 
HG02630.hp2
HG02647.hp2
HG02976.hp2
HG03139.hp1
HG03486.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1999-153C>G
c.1999-153C>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306424
chr1:2306427 G
G
 A
A
 2 a0001c0001t0003g0191
a0001c0001t0003g0289
a0001c0001t0003g0191
a0001c0001t0003g0289
 2 NA19074.hp1
NA19084.hp1
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1999-150G>A
c.1999-150G>A
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306427
chr1:2306507 G
G
 T
T
 1 a0001c0001t0087g0168
a0001c0001t0087g0168
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1999-70G>T
c.1999-70G>T
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306507
chr1:2306534 A
A
 G
G
 2 a0001c0001t0035g0261
a0001c0001t0036g0262
a0001c0001t0035g0261
a0001c0001t0036g0262
 2 HG01123.hp2
HG02818.hp1
HG01123.hp2
HG02818.hp1
 intron_variant MODIFIER c.1999-43A>G
c.1999-43A>G
SKI ENSG00000157933.11 transcript ENST00000378536.5 protein_coding 6/6 chr1 2306534

  • 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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If your browser shows the "cannot open the page" error, launch IGV and allow access via port 60151:

  1. Open IGV on your computer
  2. In IGV's menu bar: View → Preferences…
  3. Click on the "Advanced" tab
  4. Check "Enable port"
  5. Set the port number to 60151
  6. Click OK to save

For more details, please refer to Information → FAQ.